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Kallmann syndrome

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canals, and the larynx, which seemed to be of feminine dimensions. Every trace of olfactory nerves was wanting, and the trigona olfactoria and the furrow on the under surface of the anterior lobes were absent. The perforations of the ethmoid plate were sparingly present, and occupied by nerveless processes of the dura instead of by nerves. In the mucous membrane of the nose there was also an absence of nerves.
607: 476:. This surge is particularly important in infant boys as it helps with testicular descent into the scrotum. The surge of GnRH/LH/FSH in non KS/HH children gives detectable levels of testosterone in boys and oestrogen and progesterone in girls. The lack of this surge can sometimes be used as a diagnostic tool if KS/HH is suspected in a newborn boy, but is not normally distinct enough for diagnosis in girls. 263: 720:
by the age of 16 then the person should be referred for endocrinological review. Post natal diagnosis of KS/CHH before the age of 6 months is sometimes possible as the normal post natal hormonal surge of gonadotropins along with testosterone or oestrogen is absent in babies with KS/CHH. This lack of detectable hormones in the blood can be used as a diagnostic indicator, especially in male infants.
444:(HPG axis) functions normally at birth and well into adult life, giving normal puberty and normal reproductive function. The HPG axis then either fails totally or is reduced to a very low level of GnRH release in adult life with no obvious cause (e.g. a pituitary tumour). This will lead to a fall in testosterone or oestrogen levels and infertility. 456:
congenital hypogonadotropic hypogonadism (CHH) rather than KS cases and only found in people who have undergone some form of testosterone replacement therapy. It is only normally discovered when testicular volume increases while on testosterone treatment alone and testosterone levels return to normal
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The condition is more commonly diagnosed in males than in females. A 2011 study of the Finnish population produced an estimated incidence of 1 in 48,000 people overall, with 1 in 30,000 for males and 1 in 125,000 for females. Kallmann syndrome was first described by name in a paper published in 1944
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In males, the use of age appropriate levels of testosterone can help to distinguish between a case of KS/CHH from a case of delayed puberty. If no puberty is apparent, especially no testicular development, then a review by a reproductive endocrinologist may be appropriate. If puberty is not apparent
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levels are essential for healthy bone density. Some people with KS/CHH will have their levels checked and may be prescribed extra vitamin D tablets or injections to try to prevent the condition getting worse. The role of vitamin D for general overall health is under close scrutiny at the moment with
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The epidemiology of Kallmann syndrome is not well understood. Individual studies include a 1986 report reviewing medical records in the Sardinian army which found a prevalence of 1 in 86,000 men and a 2011 report from Finland which found a prevalence of 1:30,000 for males and 1:125,000 for females.
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A case mentioned by Heschl is remarkable, where the absence of both olfactory lobes was accompanied by imperfectly developed genitals. It was the case of a man aged 45, in all respects well developed, with the exception of the testicles, which were not larger than beans and contained no seminal
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Kallmann syndrome is caused by mutations in several genes involved in the development of the hypothalamus and olfactory bulbs, including KAL1, FGFR1, FGF8, PROKR2, and PROK2. These mutations disrupt the migration of GnRH-producing neurons from the olfactory placode to the hypothalamus during
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Even a short time with low oestrogen or testosterone, as in cases of delayed diagnosis of KS/CHH can lead to an increased risk of developing osteoporosis but other risk factors, such as smoking are involved so the risk of developing it will vary from person to person. Bone density scans are
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For females, hormone replacement involves the use of oestrogen and progesterone. Firstly, oestrogen is used in tablet or gel form in order to maximise breast development, then a combination of oestrogen and progesterone is used. Cyclical progesterone is normally required to help keep the
209:(HRT) is the major form of treatment with the aim to replace the missing testosterone or oestrogen and progesterone. Specialised fertility treatments are also available. The Hormone replacement therapy is used to induce and maintain secondary sexual characteristics and fertility. 1219:, who, along with colleagues, described three family clusters of the syndrome in a 1944 paper, thus confirming a heritable, genetic basis of the syndrome. The cases described by Kallmann et al. also exhibited colour blindness, with some additionally exhibiting mental retardation. 1169:
A 1961 case report by the Austrian pathologist Richard Ladislaus Heschl noted an association between male hypogonadism (including an unmasculinised larynx, and sparse body and pubic hair) and anatomical absence of the olfactory nerves, bulb, and tract. The case is later cited by
1090:). The time taken to achieve adequate sperm production for natural conception will vary from person to person. If the pre-treatment testes are very small and there has been a history of undescended testes it might take longer to achieve sperm production. In these cases, 196:
in females. Diagnosis normally occurs during teenage years when puberty fails to start. Diagnosis of Kallmann syndrome is based on clinical evaluation, endocrine testing, and genetic analysis. Hormone levels typically show low levels of sex steroids and gonadotropins.
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The exact genetic nature of each particular case of KS/HH will determine which, if any, of the non-reproductive features will occur. The severity of the symptoms will also vary from case to case. Even family members will not show the same range or severity of symptoms.
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Shows the normal hormonal control of puberty from the hypothalamus down to the testes or ovaries and their negative feedback mechanisms. The negative feedback control allows just the right amount of hormone to be released according to the needs of the body at that
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The method and dose of treatment will vary depending on the individual being treated. Initial treatment is normally made with lower doses in younger patients in order to develop the secondary sexual characteristics before adult doses are reached.
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For males with KS/CHH the types of testosterone delivery include daily patches, daily gel use, daily capsules, subcutaneous or intramuscular injections or six-monthly implants. Different formulations of testosterone are used to ensure both the
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Bry-Gauillard H, Trabado S, Bouligand J, Sarfati J, Francou B, Salenave S, Chanson P, Brailly-Tabard S, Guiochon-Mantel A, Young J (May 2010). "Congenital hypogonadotropic hypogonadism in females: clinical spectrum, evaluation and genetics".
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Reversal cases have been seen in both KS and normosmic CHH but appear to be less common in cases of KS (where the sense of smell is also affected). Reversal is not always permanent and the precise genetic causes are not yet fully understood.
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To date at least 25 different genes have been implicated in causing Kallmann syndrome or other forms of hypogonadotropic hypogonadism through a disruption in the production or activity of GnRH (37). These genes involved cover all forms of
1113:. Ovulation induction can be achieved either with pulsatile GnRH therapy or alternatively with gonadotropin injections (hCG, FSH, hMG) given at set intervals to trigger the maturation and release of the egg for natural conception. 1059:
Standard hormone replacement therapy will not normally induce fertility in either males or females, with no testicular growth in males. Early treatment as adolescents can help with psychological well-being of people with KS/CHH.
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Diagnosing KS and other forms of CHH is complicated by the difficulties in distinguishing between a normal constitutional delay of puberty or a case of KS/CHH. The diagnosis is often one of exclusion found during the workup of
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Some cases of KS/HH appear to reverse during adult life where the HPG axis resumes its normal function and GnRH, LH, and FSH levels return to normal levels. This occurs in an estimated 10 to 22% of people, primarily cases of
375:) or markedly reduced sense of smell (hyposmia). This is the defining feature of Kallmann syndrome; it is not seen in other cases of HH. Approximately 50% of HH cases occur with anosmia and can be termed as Kallmann syndrome. 460:
Affected individuals with KS and other forms of HH are almost invariably born with normal sexual differentiation; i.e., they are physically male or female. This is due to the human chorionic gonadotrophin (hCG) produced by
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in females. Hypogonadism can occur through a number of different mechanisms. The use of the term hypogonadotropic relates to the fact that the hypogonadism found in HH is caused by a disruption in the production of the
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is a protein that regulates the release of GnRH from the hypothalamus, which in turn regulates the release of LH and, to a lesser extent, FSH from the anterior pituitary gland. Kisspeptin and its associated receptor
639:. The term isolated GnRH deficiency (IGD) has increasingly been used to describe this group of conditions as it highlights the primary cause of these conditions and distinguishes them from other conditions such as 3399: 3384: 971:
treatment. Females with KS/CHH normally do not require any treatment before adolescence. Currently, no treatments exist for the lack of sense of smell, mirror movement of the hands or the absence of one kidney.
703:. From there they migrate to what will become the hypothalamus. Any problems with the development of the olfactory nerve fibres will prevent the progression of the GnRH releasing neurons towards the brain. 447:
Functional hypothalamic amenorrhoea is seen in females where the HPG axis is suppressed in response to physical or psychological stress or malnutrition but is reversible with the removal of the stressor.
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Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J (September 2015).
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of sexual development. (Males with KS/CHH are normally at stage I or II with genitalia, females at stage I with breast development and both males and females at stage III with pubic hair development).
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are known to be involved in the regulation of puberty. Studies have shown there is potential for kisspeptin to be used in the diagnosis and treatment of certain cases of Kallmann syndrome and CHH.
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Maestre de San Juan, Aureliano (1856). "Teratolagia: falta total de los nervios olfactorios con anosmia en un individuo en quien existia una atrofia congenita de los testiculos y miembro viril".
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The number of genes known to cause cases of KS/CHH is still increasing. In addition it is thought that some cases of KS/CHH are caused by two separate gene defects occurring at the same time.
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Individual gene defects can be associated with specific symptoms which can help in identifying which genes to test for. Between 35 and 45% of cases of KS/CHH have an unknown genetic cause.
2965:"GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing" 1018:(hCG) injections, with or without the use of FSH, can also be used in male patients to induce secondary sexual characteristic development alongside possible fertility induction. 278:. However, if puberty has not started by either age 14 (girls) or 15 (boys) years and one or more of the non-reproductive features mentioned below is present, then a referral to 684:
inside the hypothalamus. HH can occur as an isolated condition with just the LH and FSH production being affected or it can occur in combined pituitary deficiency conditions.
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Treatment for both males and females with KS/CHH normally consists of one of three options which can be used for both hormone replacement therapy and/or fertility treatment.
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Bouvattier C, Maione L, Bouligand J, Dodé C, Guiochon-Mantel A, Young J (October 2011). "Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism".
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picture of the spine and hips and measuring the bone mineral density and comparing the result to the average value for a young healthy adult in the general population.
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Sidhoum VF, Chan YM, Lippincott MF, Balasubramanian R, Quinton R, Plummer L, Dwyer A, Pitteloud N, Hayes FJ, Hall JE, Martin KA, Boepple PA, Seminara SB (March 2014).
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In 1914, Franz Weidenreich performed autopsies on cadavers of 10 people who had had anosmia, uncovering hypogonadism in three and postulating a syndromic association.
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Mitchell AL, Dwyer A, Pitteloud N, Quinton R (July 2011). "Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory".
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It is normally difficult to distinguish a case of Kallmann syndrome (KS)/hypogonadotropic hypogonadism (HH) from a straightforward constitutional delay of
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migrate from their original source in the nasal region and end up inside the hypothalamus. These neurons originate in an area of the developing head, the
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Diagnosis of KS/CHH normal involves a range of clinical, biochemical and radiological tests to exclude other conditions that can cause similar symptoms.
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The underlying cause of Kallmann syndrome or other forms of hypogonadotropic hypogonadism is a failure in the correct action of the hypothalamic hormone
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Vezzoli V, Duminuco P, Bassi I, Guizzardi F, Persani L, Bonomi M (June 2016). "The complex genetic basis of congenital hypogonadotropic hypogonadism".
1082:. Sperm production can be achieved through either the use of GnRH administered via a microinfusion pump or through the use of gonadotropin injections ( 5096: 4718: 1713:
Lima Amato LG, Latronico AC, Gontijo Silveira LF (June 2017). "Molecular and Genetic Aspects of Congenital Isolated Hypogonadotropic Hypogonadism".
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Pulsatile GnRH therapy can also be used to induce fertility, especially in females, but its use is limited to a few specialist treatment centres.
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who described a 40-year old male who, upon autopsy, exhibited absent olfactory bulbs, undeveloped testicles, micropenis, and lack of pubic hair.
3568: 1045:(PSA). If injections are used, trough levels are taken to ensure an adequate level of testosterone is achieved throughout the injection cycle. 940:
Testosterone gel sachets, Testosterone undecanoate injection (Nebido), Human chorionic gonadotropin (hCG) injection, Menotropin injection (hMG)
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Kallmann syndrome occurs about 4 times more often in males than females, but is only 2.5 times more common among males in familial cases.
5101: 4192: 3669: 4188: 3760: 4534: 4441: 4217: 4092: 4058: 3843: 1247: 4829: 4277: 3820: 3771: 2328:"Male Hypogonadism and Osteoporosis: The Effects, Clinical Consequences, and Treatment of Testosterone Deficiency in Bone Health" 547: 4981: 4863: 2813:
Dwyer AA, Jayasena CN, Quinton R (June 2016). "Congenital hypogonadotropic hypogonadism: implications of absent mini-puberty".
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People with KS/HH lack the surge of GnRH, LH, and FSH that normally occurs between birth and six months of age, referred to as
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which share some similar symptoms but have a different etiology. The term hypogonadism describes a low level of circulating
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when treatment is stopped. This type of KS/HH rarely occurs in cases where males have had a history of un-descended testes.
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The features of KS and other forms of HH can be split into two different categories; "reproductive" and "non-reproductive".
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and general wellbeing. In males, testosterone replacement therapy is required for the maintenance of normal muscle mass.
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gene defect (previously known as KAL-1) was the first one discovered and the one most commonly tested for. It causes the
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KS/HH is most often present from birth but adult onset versions are found in both males and females. In those cases, the
144:. To distinguish it from other forms of hypogonadotropic hypogonadism, Kallmann syndrome has the additional symptom of a 4609: 3561: 2720: 515:
scan (DEXA or DXA scan). It is a simple test, taking less than 15 minutes to perform. It involves taking a specialised
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testosterone delivery methods have been developed but their use in KS/CHH treatment has not been formally evaluated.
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some researchers claiming vitamin D deficiency is prevalent in many populations and can be linked to other diseases.
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Wimalawansa SJ, Razzaque DM, Al-Daghri NM (December 2017). "Calcium and Vitamin D in Human Health: Hype or Real?".
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Gonadotropin therapy can be used in both male and female patients in order to achieve fertility for some people.
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Early treatment is sometimes required for male infants with suspected KS/CHH to correct undescended testes and
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in the brains of men with hypogonadism, proving that anosmia resulted from agenesis of the olfactory bulb.
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Lack of testicle development in men (size < 4 ml, whereas the normal range is between 12 and 25 ml).
254: 2207:"Treatment of isolated hypogonadotropic hypogonadism effect on bone mineral density and bone turnover" 1448:
Balasubramanian R, Crowley WF Jr (2017). "Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency".
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Teixeira L, Guimiot F, Dodé C, Fallet-Bianco C, Millar RP, Delezoide AL, Hardelin JP (October 2010).
1042: 598:. This defect is thought to be responsible for between 5 and 10% of all Kallmann syndrome/CHH cases. 3119: 1053: 168:. A range of other physical symptoms affecting the face, hands and skeletal system can also occur. 5056: 4723: 4158: 4110: 3920: 3861: 3598: 3491: 1190: 1171: 1106: 799: 669: 1802:
Kallmann FJ, Schönfeld WA, Barrera SE (1943–1944). "The genetic aspects of primary eunuchoidism".
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Valdes-Socin H, Rubio Almanza M, Tomé Fernández-Ladreda M, Debray FG, Bours V, Beckers A (2014).
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Valdes-Socin H, Rubio Almanza M, Tomé Fernández-Ladreda M, Debray FG, Bours V, Beckers A (2014).
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McCabe MJ, Bancalari RE, Dattani MT (February 2014). "Diagnosis and evaluation of hypogonadism".
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Psychopathia Sexualis: With Especial Reference to Contrary Sexual Instinct: A Medico-Legal Study
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Laitinen EM, Vaaralahti K, Tommiska J, Eklund E, Tervaniemi M, Valanne L, Raivio T (June 2011).
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Maione L, Dwyer AA, Francou B, Guiochon-Mantel A, Binart N, Bouligand J, Young J (March 2018).
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In males, the monitoring of treatment normally requires the measurement of serum testosterone,
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The link between anosmia and hypogonadism was noted already in 1856 by the Spanish physician
504:. Overall this can lead to weakened, fragile bones which have a higher tendency to fracture. 3361: 3098: 4661: 4587: 4559: 3792: 3723: 3577: 2044: 1882:"Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future" 1205: 1149: 1008: 640: 219: 8: 4858: 4569: 4106: 4102: 3783: 3403: 3167: 1562:"Sesquicentenary of the first Chair of Histology in Spain. Aureliano Maestre of San Juan" 968: 859: 819: 673: 330: 484:
One possible side effect of having KS/CHH is the increased risk of developing secondary
5031: 4731: 4629: 4080: 3336: 3311: 3287: 3262: 3238: 3211: 3030: 3005: 2901: 2630: 2582: 2558:"Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions" 2557: 2533: 2508: 2454: 2427: 2403: 2378: 2354: 2327: 2308: 2125:. Documenta Ophthalmologica Proceedings Series. Dordrecht: Springer. pp. 201–207. 2098: 2071: 2021: 1906: 1881: 1776: 1750:"Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland" 1749: 50: 3408: 2790: 2765: 2154: 1372:. National Institutes for Health. Genetic and Rare Diseases Information. June 26, 2016 1365: 4923: 4597: 4121: 3994: 3970: 3946: 3661: 3502: 3341: 3292: 3243: 3209: 3192: 3145: 3076: 3035: 2986: 2942: 2937: 2920: 2893: 2858: 2822: 2795: 2744: 2716: 2671: 2622: 2587: 2538: 2489: 2459: 2425: 2408: 2359: 2300: 2269: 2264: 2247: 2228: 2185: 2134: 2103: 2013: 1973: 1950: 1911: 1781: 1730: 1678: 1670: 1631: 1583: 1542: 1453: 1330: 1322: 692: 623: 233:. The link between anosmia and hypogonadism had already been noted by Spanish doctor 38: 2312: 2025: 944:
For both males and females, the initial aim for treatment is the development of the
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while discussing the role of olfaction in the physiology of the sexual response:
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is required for both males and females to maintain sexual function, bone health,
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National Institutes for Health. US Library of Medicine. Genetics Home Reference
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In females monitoring normally consists of measurement of oestrogen, FSH, LH,
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normally have to be investigated first before a case of KS/CHH is considered.
695:, that will give rise to the olfactory epithelium; they then pass through the 453: 5085: 5046: 4809: 4769: 4697: 4684: 4582: 4577: 4549: 4336: 4026: 3788: 3228: 2781: 2690: 2444: 1954: 1674: 1587: 1341: 1326: 1213: 982:
Gonadotropin therapy (medications that replicate the activity of FSH and LH).
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Pitteloud N (December 2012). "Managing delayed or altered puberty in boys".
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form of Kallmann syndrome and is associated with the additional symptoms of
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and no one gene defect has been shown to be common to all cases which makes
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The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism
493: 492:. Oestrogen (females) or testosterone (males) is essential for maintaining 485: 473: 395: 382: 378: 352: 344: 340: 305: 193: 185: 181: 176:
The underlying cause is a failure in the correct production or activity of
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Reversal of symptoms has been reported in between 10% and 22% of cases.
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Jockenhovel F (2004). "Chapter 3: Diagnostic work up of hypogonadism".
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Laitinen EM, Hero M, Vaaralahti K, Tommiska J, Raivio T (August 2012).
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The terminology used when describing cases of HH vary and can include:
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Sex hormone replacement (testosterone or oestrogen & progesterone).
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In females, diagnosis is sometimes further delayed as other causes of
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In females with KS/CHH, infertility is primarily due to the lack of
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to preserve bone mass, in addition to hormone replacement therapy.
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National Organisation for Rare Diseases page on Kallmann syndrome.
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Krafft-Ebing, R. von (Richard); Chaddock, Charles Gilbert (1893).
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In males with KS/CHH, infertility is primarily due to the lack of
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disorder that prevents a person from starting or fully completing
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normally seen at puberty. Once this has been achieved, continued
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19 year old with Kallmann syndrome before diagnosis and treatment
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and Gauthier reported the partial or complete absence of the
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In the first 10 weeks of normal embryonic development, the
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Jones H, ed. (2008). "Chapter 9: Puberty & Fertility".
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GnRH and/or hCG stimulation test to determine activity of
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The Journal of Steroid Biochemistry and Molecular Biology
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Some people with severe osteoporosis might be prescribed
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Absence of one of the kidneys (unilateral renal agenesis)
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Lifelong treatment for both sexes is normally required.
2051:. National Organisation for Rare Disorders (NORD). 2012 1829: 1827: 1825: 1823: 1821: 1819: 1817: 798:
Checking for mirror movements of the hands or signs of
3691: 3135: 2729: 1967: 1447: 4393:
Junctional epidermolysis bullosa with pyloric atresia
1715:
Endocrinology and Metabolism Clinics of North America
1648: 152:. If left untreated, people will have poorly defined 3366: 3165: 3052: 3010:
The Journal of Clinical Endocrinology and Metabolism
2812: 2654:
The Journal of Clinical Endocrinology and Metabolism
2383:
The Journal of Clinical Endocrinology and Metabolism
2211:
The Journal of Clinical Endocrinology and Metabolism
776:
University of Pennsylvania Smell Identification Test
270:(r), whose unusual voice was due to Kallman syndrome 1853: 1610:"Transition in endocrinology: induction of puberty" 3182: 2325: 2069: 1305:Journal of Clinical Endocrinology & Metabolism 2682: 2509:"Genetic counseling for isolated GnRH deficiency" 2072:"The eye as a window to rare endocrine disorders" 1649:Christiansen, Peter; Skakkebæk, Niels E. (2002). 508:recommended to monitor the bone mineral density. 184:. This results in low levels of the sex hormones 5083: 4032:Congenital insensitivity to pain with anhidrosis 2958: 2956: 2475: 2473: 2379:"Clinical genetic testing for Kallmann syndrome" 1503: 1501: 1499: 1497: 1495: 1493: 1491: 1489: 1487: 1443: 1441: 1439: 1437: 1435: 1433: 1431: 1429: 1427: 1425: 1423: 1421: 1419: 1417: 1415: 1413: 1411: 1409: 1407: 891:to rule out any structural abnormalities in the 757:Checking for micropenis and undescended testes ( 500:while at the same time slowing down the rate of 311:Poorly defined secondary sexual characteristics. 4685:Danon disease/glycogen storage disease Type IIb 3261:Skorupskaite K, George JT, Anderson RA (2014). 3136:Balasubramanian R, Crowley WF (March 2, 2017). 2204: 1991: 1989: 1987: 1708: 1706: 1704: 1702: 1700: 1698: 1696: 1694: 1692: 1603: 1601: 1599: 1597: 1485: 1483: 1481: 1479: 1477: 1475: 1473: 1471: 1469: 1467: 1405: 1403: 1401: 1399: 1397: 1395: 1393: 1391: 1389: 1387: 1370:Genetics Home Reference. US Library of Medicine 774:Checking sense of smell using odorant panel or 3309: 3183:De Morsier G, Gauthier G (November 1963). "". 3131: 3129: 2121:Jaffe MJ, Sherins RJ, de Monasterio F (1989). 2076:Indian Journal of Endocrinology and Metabolism 989: 16:Genetic disorder which delays or stops puberty 4790:Color blindness (red and green, but not blue) 4775:Alpha-thalassemia mental retardation syndrome 4479: 3677: 3562: 3254: 3176: 3053:Dwyer AA, Raivio T, Pitteloud N (June 2016). 3046: 2953: 2806: 2757: 2598: 2549: 2506: 2500: 2470: 2419: 2370: 2319: 2280: 2205:Guo CY, Jones TH, Eastell R (February 1997). 1961: 1797: 1795: 1741: 1607: 1260:normosmic hypogonadotropic hypogonadism (nHH) 906:Ultrasound of kidneys to rule out unilateral 212: 4675:Glucose-6-phosphate dehydrogenase deficiency 3777:Gonadotropin-releasing hormone insensitivity 2912: 2869: 2833: 2641: 2239: 1984: 1928: 1689: 1594: 1464: 1384: 394:Skeletal defects including split hand/foot ( 365: 4193:Congenital amegakaryocytic thrombocytopenia 3126: 2738: 2507:Au MG, Crowley WF, Buck CL (October 2011). 2198: 1875: 1873: 1871: 1869: 795:Checking for pigmentation of skin and hair. 767:Checking for breast development and age at 747:Comparing height to standard growth charts. 398:), shortened middle finger (metacarpal) or 294:Failure to start or fully complete puberty. 4486: 4472: 4278:Autoimmune lymphoproliferative syndrome 1A 3761:Follicle-stimulating hormone insensitivity 3684: 3670: 3569: 3555: 3303: 2918: 2070:Chopra R, Chander A, Jacob JJ (May 2012). 1849: 1847: 1792: 784:Checking for missing teeth or presence of 4535:X-linked severe combined immunodeficiency 4442:X-linked severe combined immunodeficiency 4218:TNF receptor associated periodic syndrome 3335: 3286: 3237: 3227: 3092: 3090: 3070: 3029: 2980: 2936: 2789: 2665: 2604: 2581: 2532: 2453: 2443: 2402: 2353: 2343: 2263: 2222: 2184:. Elsevier Health Sciences. p. 136. 2097: 2087: 1905: 1775: 1765: 1625: 1577: 1536: 1526: 1316: 1193:, Charles Gilbert Chaddock (translator), 814:Early morning hormonal testing including 5097:Syndromes affecting the endocrine system 3576: 3310:George JT, Seminara SB (November 2012). 2179: 1931:"Clinical genetics of Kallmann syndrome" 1866: 1248:congenital hypogonadotropic hypogonadism 1144: 935: 729: 614: 605: 551: 526:levels and, probably, more importantly, 288: 261: 253: 171: 164:and are at increased risk of developing 4929:X-linked nephrogenic diabetes insipidus 4854:Hypohidrotic ectodermal dysplasia (EDA) 4230:Selective immunoglobulin A deficiency 2 3821:Aspirin-exacerbated respiratory disease 3097:Tritos, Nicholas A (October 10, 2016). 2763: 2688: 1844: 1559: 1063: 868:to check for chromosomal abnormalities. 548:Genetics of GnRH deficiency conditions. 432:Increased incidence of color-blindness 385:or other midline cranio-facial defects. 5084: 4864:X-linked endothelial corneal dystrophy 4507: 4493: 4405:EDAR hypohidrotic ectodermal dysplasia 4333:Familial exudative vitreoretinopathy 4 3890:Familial exudative vitreoretinopathy 1 3096: 3087: 2376: 1998:Trends in Endocrinology and Metabolism 1929:DodĂ©, C.; Hardelin, J.-P. (May 2010). 1255:isolated hypogonadotropic hypogonadism 1007:effects of testosterone are achieved. 963:if present with the use or surgery or 569:and inheritance prediction difficult. 5009: 5008: 4820:Charcot–Marie–Tooth disease (CMTX2-3) 4644:Ornithine transcarbamylase deficiency 4620:X-linked adrenal hypoplasia congenita 4506: 4467: 4097:Hereditary hemorrhagic telangiectasia 4073:Persistent MĂĽllerian duct syndrome II 3844:Jansen's metaphyseal chondrodysplasia 3665: 3550: 3161: 3159: 3144:. University of Washington, Seattle. 2710: 2647: 2562:The Journal of Clinical Investigation 2326:Golds G, Houdek D, Arnason T (2017). 1298: 1014:Gonadotropin therapy, in the form of 249: 119:1:30,000 (males), 1:125,000 (females) 4555:X-linked lymphoproliferative disease 4525:Chronic granulomatous disease (CYBB) 4418:Nevoid basal-cell carcinoma syndrome 3867:Familial hypocalciuric hypercalcemia 2997: 2513:Molecular and Cellular Endocrinology 511:The bone density scan is known as a 414:Poor balance or coordination due to 4901:Emery–Dreifuss muscular dystrophy 1 4181:Surfactant metabolism dysfunction 4 2689:Lee PA, Houk CP (August 13, 2012). 1879: 442:hypothalamic-pituitary-gonadal axis 13: 5102:Cell surface receptor deficiencies 4610:Spinal and bulbar muscular atrophy 4430:BMPR1A juvenile polyposis syndrome 4351:LDLR Familial hypercholesterolemia 3156: 2252:International Journal of Andrology 874: 668:hormones normally released by the 601: 14: 5128: 4680:Pyruvate dehydrogenase deficiency 3741:Luteinizing hormone insensitivity 3355: 3059:European Journal of Endocrinology 2969:European Journal of Endocrinology 1754:Orphanet Journal of Rare Diseases 1614:European Journal of Endocrinology 1608:Dunkel L, Quinton R (June 2014). 741: 323:(undescended testicles) at birth. 4760:X-linked intellectual disability 3809:Nephrogenic diabetes insipidus 1 2938:10.1111/j.1365-2265.2009.03746.x 2919:Han TS, Bouloux PM (June 2010). 2715:. Oxford Endocrinology Library. 2265:10.1111/j.1365-2605.2011.01237.x 1100:intracytoplasmic sperm injection 1094:, such as sperm retrieval using 1092:assisted reproductive technology 946:secondary sexual characteristics 781:Checking for hearing impairment. 513:dual energy X-ray absorptiometry 465:at approximately 12 to 20 weeks 154:secondary sexual characteristics 4606:Androgen insensitivity syndrome 3749:Male-limited precocious puberty 3203: 2776:(7494): 789, author reply 789. 2173: 2114: 2063: 1970:Pediatric Endocrinology Reviews 1922: 1655:Hormone Research in Paediatrics 1128: 479: 4982:Simpson–Golabi–Behmel syndrome 4136:Leber's congenital amaurosis 1 4048:Gastrointestinal stromal tumor 3617:Tertiary adrenal insufficiency 2713:Testosterone Deficiency in Men 2182:Pediatric Endocrinology E-Book 1642: 1553: 1292: 1233: 931: 371:Total lack of sense of smell ( 178:gonadotropin-releasing hormone 1: 4951:AMELX Amelogenesis imperfecta 4891:Centronuclear myopathy (MTM1) 4588:X-linked sideroblastic anemia 3635:Neurogenic diabetes insipidus 2878:Nature Reviews. Endocrinology 2123:Colour Vision Deficiencies IX 1515:Nature Reviews. Endocrinology 1286: 1164:Aureliano Maestre de San Juan 1153: 899:and to check for presence of 235:Aureliano Maestre de San Juan 142:hypogonadotropic hypogonadism 33:Kallmann's hereditary anosmia 4977:Smith–Fineman–Myers syndrome 4825:Pelizaeus–Merzbacher disease 4719:Purine–pyrimidine metabolism 2131:10.1007/978-94-009-2695-0_24 1972:. 11 Suppl 2 (Feb): 214–29. 1886:Endocrinology and Metabolism 1116: 1016:human chorionic gonadotropin 808: 764:Measuring testicular volume. 706: 678:follicle stimulating hormone 280:reproductive endocrinologist 200: 146:total lack of sense of smell 7: 5067:Craniofrontonasal dysplasia 4992:Nasodigitoacoustic syndrome 4540:X-linked agammaglobulinemia 3729:Congenital hypothyroidism 1 2297:10.1016/j.jsbmb.2017.12.009 1270: 1109:of eggs located within the 1102:(ICSI), might be required. 1096:testicular sperm extraction 990:Hormone replacement therapy 950:hormone replacement therapy 541: 408:(mirror movements of hands) 240: 207:Hormone replacement therapy 105:Hormone replacement therapy 10: 5133: 5062:Orofaciodigital syndrome 1 4896:Conradi–HĂĽnermann syndrome 4649:Oculocerebrorenal syndrome 4388:Glanzmann's thrombasthenia 4368:Immunoglobulin superfamily 4020:Rabson–Mendenhall syndrome 3702:G protein-coupled receptor 3216:Frontiers in Endocrinology 2855:10.1016/j.ando.2010.02.024 2432:Frontiers in Endocrinology 1947:10.1016/j.ando.2010.02.005 1204:The syndrome is named for 1140: 545: 411:Missing teeth (hypodontia) 213:Epidemiology & History 5022:X-linked hypophosphatemia 5017: 5004: 4959: 4937: 4909: 4882:Becker muscular dystrophy 4872: 4838: 4749: 4628: 4596: 4568: 4545:Hyper-IgM syndrome type 1 4515: 4502: 4360: 4287: 4242:Hyper-IgM syndrome type 3 4202: 4149: 4120: 4057: 3919: 3903: 3876: 3853: 3830: 3715: 3700: 3643: 3625: 3607: 3584: 3517: 3370: 3267:Human Reproduction Update 2525:10.1016/j.mce.2011.05.041 2010:10.1016/j.tem.2011.03.002 1898:10.3803/EnM.2015.30.4.456 1727:10.1016/j.ecl.2017.01.010 1579:10.15568/am.2024.818.ed01 1263:hypothalamic hypogonadism 1043:prostate-specific antigen 388:Neural hearing impairment 366:Non-reproductive features 115: 100: 92: 82: 70: 49: 37: 29: 24: 4987:Mohr–Tranebjærg syndrome 4530:Wiskott–Aldrich syndrome 4317:Cenani–Lenz syndactylism 4159:Type I cytokine receptor 3797:Hirschsprung's disease 2 3599:Adiposogenital dystrophy 3229:10.3389/fendo.2014.00109 2843:Annales d'Endocrinologie 2782:10.1136/bmj.330.7494.789 2764:Quinton R (April 2005). 2445:10.3389/fendo.2014.00109 1935:Annales d'Endocrinologie 1880:Kim SH (December 2015). 1299:Young, J. (1999-08-01). 1266:olfacto-genital syndrome 1191:Richard von Krafft-Ebing 1172:Richard von Krafft-Ebing 800:neurodevelopmental delay 670:anterior pituitary gland 160:, almost invariably are 5027:Focal dermal hypoplasia 4741:Occipital horn syndrome 4670:Carbohydrate metabolism 3999:Thanatophoric dysplasia 3793:Waardenburg syndrome 4a 2890:10.1038/nrendo.2011.164 2815:Minerva Endocrinologica 2482:Minerva Endocrinologica 2180:Sperling, Mark (2014). 2089:10.4103/2230-8210.95659 1528:10.1038/nrendo.2015.112 985:GnRH pulsatile therapy. 317:in 5-10% of male cases. 246:embryonic development. 5112:Rare genetic syndromes 5092:Hypothalamus disorders 5042:Incontinentia pigmenti 4849:Dyskeratosis congenita 4693:Lipid storage disorder 4615:KAL1 Kallmann syndrome 4453:cell surface receptors 4305:Donnai–Barrow syndrome 3979:Jackson–Weiss syndrome 3967:Antley–Bixler syndrome 3951:KAL2 Kallmann syndrome 3905:Enzyme-linked receptor 3745:Leydig cell hypoplasia 3651:Hypothalamic hamartoma 3185:Pathologie et Biologie 3114:Cite journal requires 2925:Clinical Endocrinology 2648:Young J (March 2012). 2377:Layman LC (May 2013). 2224:10.1210/jcem.82.2.3758 1767:10.1186/1750-1172-6-41 1318:10.1210/jcem.84.8.5972 1199: 1159: 1078:production within the 1054:anti-MĂĽllerian hormone 941: 884:to determine bone age. 735: 689:GnRH releasing neurons 682:GnRH releasing neurons 632: 619:The structure of GNRH1 612: 557: 271: 259: 150:reduced sense of smell 4765:Coffin–Lowry syndrome 4706:Mucopolysaccharidosis 3765:XX gonadal dysgenesis 3693:Cell surface receptor 3279:10.1093/humupd/dmu009 1195:Psychopathia Sexualis 1182: 1177:Psychopathia Sexualis 1148: 939: 733: 618: 609: 555: 546:Further information: 343:due to low levels of 289:Reproductive features 265: 257: 172:Cause & Diagnosis 5057:Lujan–Fryns syndrome 4724:Lesch–Nyhan syndrome 4662:Adrenoleukodystrophy 4560:Properdin deficiency 4111:Loeys–Dietz syndrome 3578:Hypothalamic disease 3328:10.1210/en.2012-1429 3022:10.1210/jc.2013-2809 2667:10.1210/jc.2011-1664 2395:10.1210/jc.2013-1624 2345:10.1155/2017/4602129 1560:Garrosa, M. (2024). 1206:Franz Josef Kallmann 1064:Fertility treatments 641:Klinefelter syndrome 421:Eye defects such as 282:might be advisable. 220:Franz Josef Kallmann 5117:Intersex variations 5107:Pituitary disorders 4859:X-linked ichthyosis 3072:10.1530/EJE-15-1033 2982:10.1530/EJE-17-0749 2743:. Uni-Med Science. 2695:Medscape Pediatrics 2155:"Kallmann syndrome" 2045:"Kallmann syndrome" 1627:10.1530/EJE-13-0894 1366:"Kallmann syndrome" 913:Bone density scan ( 860:inflammation marker 734:Tanner scale-female 674:luteinising hormone 5032:Fragile X syndrome 4842:and related tissue 4509:X-linked recessive 4081:TGF beta receptors 3518:External resources 1160: 942: 736: 633: 613: 558: 326:Low levels of the 304:(failure to start 272: 260: 250:Signs and symptoms 65:inability to smell 55:Absent or delayed 5079: 5078: 5075: 5074: 5011:X-linked dominant 5000: 4999: 4960:No primary system 4461: 4460: 4145: 4144: 3995:Hypochondroplasia 3971:Pfeiffer syndrome 3947:Pfeiffer syndrome 3899: 3898: 3659: 3658: 3594:Kallmann syndrome 3544: 3543: 2750:978-3-89599-748-8 2741:Male Hypogonadism 2619:10.1136/bmj.e7913 1667:10.1159/000057944 1566:Actualidad Medica 1450:SourceGeneReviews 1150:Franz J. Kallmann 880:Performing wrist 701:rostral forebrain 693:olfactory placode 126:Kallmann syndrome 123: 122: 25:Kallmann syndrome 19:Medical condition 5124: 5037:Aicardi syndrome 5006: 5005: 4504: 4503: 4488: 4481: 4474: 4465: 4464: 4015:Donohue syndrome 3975:Crouzon syndrome 3935:Robinow syndrome 3917: 3916: 3713: 3712: 3686: 3679: 3672: 3663: 3662: 3571: 3564: 3557: 3548: 3547: 3368: 3367: 3350: 3349: 3339: 3307: 3301: 3300: 3290: 3258: 3252: 3251: 3241: 3231: 3207: 3201: 3200: 3180: 3174: 3173: 3163: 3154: 3153: 3133: 3124: 3123: 3117: 3112: 3110: 3102: 3094: 3085: 3084: 3074: 3050: 3044: 3043: 3033: 3001: 2995: 2994: 2984: 2960: 2951: 2950: 2940: 2916: 2910: 2909: 2873: 2867: 2866: 2837: 2831: 2830: 2810: 2804: 2803: 2793: 2761: 2755: 2754: 2736: 2727: 2726: 2708: 2699: 2698: 2686: 2680: 2679: 2669: 2645: 2639: 2638: 2613:(Dec 3): e7913. 2602: 2596: 2595: 2585: 2574:10.1172/JCI43699 2553: 2547: 2546: 2536: 2504: 2498: 2497: 2477: 2468: 2467: 2457: 2447: 2423: 2417: 2416: 2406: 2374: 2368: 2367: 2357: 2347: 2332:Int J Endocrinol 2323: 2317: 2316: 2291:. Dec 16: 4–14. 2284: 2278: 2277: 2267: 2243: 2237: 2236: 2226: 2202: 2196: 2195: 2177: 2171: 2170: 2168: 2166: 2151: 2145: 2144: 2118: 2112: 2111: 2101: 2091: 2067: 2061: 2060: 2058: 2056: 2041: 2030: 2029: 1993: 1982: 1981: 1965: 1959: 1958: 1926: 1920: 1919: 1909: 1877: 1864: 1863: 1851: 1842: 1831: 1812: 1811: 1799: 1790: 1789: 1779: 1769: 1745: 1739: 1738: 1710: 1687: 1686: 1646: 1640: 1639: 1629: 1605: 1592: 1591: 1581: 1557: 1551: 1550: 1540: 1530: 1505: 1462: 1461: 1445: 1382: 1381: 1379: 1377: 1362: 1339: 1338: 1320: 1311:(8): 2696–2699. 1296: 1197: 1158: 1155: 750:Determining the 697:cribriform plate 630: 156:, show signs of 87:Present at birth 22: 21: 5132: 5131: 5127: 5126: 5125: 5123: 5122: 5121: 5082: 5081: 5080: 5071: 5013: 4996: 4972:McLeod syndrome 4955: 4933: 4919:Alport syndrome 4905: 4868: 4834: 4795:Ocular albinism 4745: 4711:Hunter syndrome 4624: 4592: 4564: 4511: 4498: 4492: 4462: 4457: 4361:Other/ungrouped 4356: 4337:Osteopetrosis 1 4283: 4198: 4141: 4116: 4053: 4003:Muenke syndrome 3909: 3907: 3895: 3872: 3849: 3826: 3704: 3696: 3690: 3660: 3655: 3639: 3621: 3603: 3580: 3575: 3545: 3540: 3539: 3513: 3512: 3379: 3358: 3353: 3308: 3304: 3259: 3255: 3208: 3204: 3181: 3177: 3164: 3157: 3134: 3127: 3115: 3113: 3104: 3103: 3095: 3088: 3051: 3047: 3002: 2998: 2961: 2954: 2917: 2913: 2874: 2870: 2838: 2834: 2811: 2807: 2762: 2758: 2751: 2737: 2730: 2723: 2709: 2702: 2687: 2683: 2646: 2642: 2603: 2599: 2568:(10): 3668–72. 2554: 2550: 2505: 2501: 2478: 2471: 2424: 2420: 2375: 2371: 2324: 2320: 2285: 2281: 2244: 2240: 2203: 2199: 2192: 2178: 2174: 2164: 2162: 2161:. December 2017 2153: 2152: 2148: 2141: 2119: 2115: 2068: 2064: 2054: 2052: 2043: 2042: 2033: 1994: 1985: 1966: 1962: 1927: 1923: 1878: 1867: 1856:El Siglo MĂ©dico 1852: 1845: 1832: 1815: 1804:Am J Ment Defic 1800: 1793: 1746: 1742: 1711: 1690: 1647: 1643: 1606: 1595: 1558: 1554: 1506: 1465: 1446: 1385: 1375: 1373: 1364: 1363: 1342: 1297: 1293: 1289: 1273: 1243:GnRH deficiency 1236: 1198: 1189: 1174:in his seminal 1156: 1143: 1131: 1119: 1066: 1026:(lining of the 992: 934: 917:) to check for 901:olfactory bulbs 877: 875:Medical imaging 811: 744: 714:delayed puberty 709: 645:Turner syndrome 622: 620: 604: 602:Pathophysiology 567:genetic testing 550: 544: 536:bisphosphonates 498:bone resorption 482: 416:cerebral ataxia 368: 291: 252: 243: 215: 203: 174: 148:(anosmia) or a 107: 20: 17: 12: 11: 5: 5130: 5120: 5119: 5114: 5109: 5104: 5099: 5094: 5077: 5076: 5073: 5072: 5070: 5069: 5064: 5059: 5054: 5052:CHILD syndrome 5049: 5044: 5039: 5034: 5029: 5024: 5018: 5015: 5014: 5002: 5001: 4998: 4997: 4995: 4994: 4989: 4984: 4979: 4974: 4969: 4967:Barth syndrome 4963: 4961: 4957: 4956: 4954: 4953: 4947: 4945: 4935: 4934: 4932: 4931: 4926: 4924:Dent's disease 4921: 4915: 4913: 4907: 4906: 4904: 4903: 4898: 4893: 4888: 4878: 4876: 4870: 4869: 4867: 4866: 4861: 4856: 4851: 4845: 4843: 4836: 4835: 4833: 4832: 4827: 4822: 4813: 4812: 4807: 4805:Norrie disease 4802: 4792: 4787:Eye disorders: 4783: 4782: 4777: 4772: 4767: 4755: 4753: 4751:Nervous system 4747: 4746: 4744: 4743: 4737:Menkes disease 4727: 4726: 4714: 4713: 4701: 4700: 4688: 4687: 4682: 4677: 4665: 4664: 4652: 4651: 4646: 4634: 4632: 4626: 4625: 4623: 4622: 4617: 4612: 4602: 4600: 4594: 4593: 4591: 4590: 4585: 4580: 4574: 4572: 4566: 4565: 4563: 4562: 4557: 4552: 4547: 4542: 4537: 4532: 4527: 4521: 4519: 4513: 4512: 4500: 4499: 4491: 4490: 4483: 4476: 4468: 4459: 4458: 4456: 4455: 4450: 4446: 4445: 4433: 4421: 4396: 4395: 4390: 4385: 4375: 4374: 4364: 4362: 4358: 4357: 4355: 4354: 4341: 4340: 4329:Worth syndrome 4320: 4308: 4291: 4289: 4288:Lipid receptor 4285: 4284: 4282: 4281: 4269: 4257: 4245: 4233: 4221: 4208: 4206: 4200: 4199: 4197: 4196: 4185: 4184: 4172: 4169:Laron syndrome 4155: 4153: 4147: 4146: 4143: 4142: 4140: 4139: 4126: 4124: 4118: 4117: 4115: 4114: 4100: 4077: 4076: 4063: 4061: 4055: 4054: 4052: 4051: 4044:KIT Piebaldism 4035: 4023: 4017: 4006: 3991:Achondroplasia 3982: 3963:Apert syndrome 3954: 3938: 3925: 3923: 3914: 3901: 3900: 3897: 3896: 3894: 3893: 3880: 3878: 3874: 3873: 3871: 3870: 3857: 3855: 3851: 3850: 3848: 3847: 3834: 3832: 3828: 3827: 3825: 3824: 3812: 3800: 3780: 3768: 3752: 3732: 3719: 3717: 3710: 3698: 3697: 3689: 3688: 3681: 3674: 3666: 3657: 3656: 3654: 3653: 3647: 3645: 3641: 3640: 3638: 3637: 3631: 3629: 3623: 3622: 3620: 3619: 3613: 3611: 3605: 3604: 3602: 3601: 3596: 3590: 3588: 3582: 3581: 3574: 3573: 3566: 3559: 3551: 3542: 3541: 3538: 3537: 3522: 3521: 3519: 3515: 3514: 3511: 3510: 3499: 3488: 3411: 3396: 3380: 3375: 3374: 3372: 3371:Classification 3365: 3364: 3357: 3356:External links 3354: 3352: 3351: 3322:(11): 5130–6. 3302: 3273:(4): 485–500. 3253: 3202: 3175: 3155: 3125: 3116:|journal= 3086: 3065:(6): R267–74. 3045: 2996: 2975:(3): R55–R80. 2952: 2911: 2868: 2832: 2805: 2756: 2749: 2728: 2722:978-0199545131 2721: 2700: 2681: 2640: 2597: 2548: 2519:(1–2): 102–9. 2499: 2469: 2418: 2369: 2318: 2279: 2238: 2197: 2190: 2172: 2146: 2139: 2113: 2062: 2031: 1983: 1960: 1941:(3): 149–157. 1921: 1865: 1843: 1813: 1791: 1760:(Jun 17): 41. 1740: 1721:(2): 283–303. 1688: 1661:(1–2): 32–36. 1641: 1620:(6): R229–39. 1593: 1552: 1463: 1383: 1340: 1290: 1288: 1285: 1272: 1269: 1268: 1267: 1264: 1261: 1258: 1251: 1245: 1235: 1232: 1228:olfactory bulb 1187: 1142: 1139: 1130: 1127: 1118: 1115: 1098:(TESE) and/or 1065: 1062: 991: 988: 987: 986: 983: 980: 933: 930: 927: 926: 911: 908:renal agenesis 904: 885: 876: 873: 870: 869: 863: 856:renal function 852:Liver function 849: 846: 835: 810: 807: 804: 803: 796: 793: 782: 779: 772: 765: 762: 759:cryptorchidism 755: 748: 743: 742:Clinical tests 740: 708: 705: 603: 600: 596:renal agenesis 543: 540: 502:bone formation 481: 478: 434: 433: 430: 419: 412: 409: 402: 392: 389: 386: 376: 367: 364: 363: 362: 356: 338: 324: 321:Cryptorchidism 318: 312: 309: 298: 295: 290: 287: 251: 248: 242: 239: 214: 211: 202: 199: 173: 170: 121: 120: 117: 113: 112: 102: 98: 97: 94: 90: 89: 84: 80: 79: 74: 68: 67: 53: 47: 46: 41: 35: 34: 31: 27: 26: 18: 15: 9: 6: 4: 3: 2: 5129: 5118: 5115: 5113: 5110: 5108: 5105: 5103: 5100: 5098: 5095: 5093: 5090: 5089: 5087: 5068: 5065: 5063: 5060: 5058: 5055: 5053: 5050: 5048: 5047:Rett syndrome 5045: 5043: 5040: 5038: 5035: 5033: 5030: 5028: 5025: 5023: 5020: 5019: 5016: 5012: 5007: 5003: 4993: 4990: 4988: 4985: 4983: 4980: 4978: 4975: 4973: 4970: 4968: 4965: 4964: 4962: 4958: 4952: 4949: 4948: 4946: 4944: 4940: 4936: 4930: 4927: 4925: 4922: 4920: 4917: 4916: 4914: 4912: 4908: 4902: 4899: 4897: 4894: 4892: 4889: 4887: 4883: 4880: 4879: 4877: 4875: 4874:Neuromuscular 4871: 4865: 4862: 4860: 4857: 4855: 4852: 4850: 4847: 4846: 4844: 4841: 4837: 4831: 4828: 4826: 4823: 4821: 4818: 4815: 4814: 4811: 4810:Choroideremia 4808: 4806: 4803: 4800: 4796: 4793: 4791: 4788: 4785: 4784: 4781: 4778: 4776: 4773: 4771: 4770:MASA syndrome 4768: 4766: 4763: 4761: 4757: 4756: 4754: 4752: 4748: 4742: 4738: 4735: 4733: 4729: 4728: 4725: 4722: 4720: 4716: 4715: 4712: 4709: 4707: 4703: 4702: 4699: 4698:Fabry disease 4695: 4694: 4690: 4689: 4686: 4683: 4681: 4678: 4676: 4673: 4671: 4667: 4666: 4663: 4660: 4658: 4654: 4653: 4650: 4647: 4645: 4642: 4640: 4636: 4635: 4633: 4631: 4627: 4621: 4618: 4616: 4613: 4611: 4607: 4604: 4603: 4601: 4599: 4595: 4589: 4586: 4584: 4583:Haemophilia B 4581: 4579: 4578:Haemophilia A 4576: 4575: 4573: 4571: 4567: 4561: 4558: 4556: 4553: 4551: 4548: 4546: 4543: 4541: 4538: 4536: 4533: 4531: 4528: 4526: 4523: 4522: 4520: 4518: 4514: 4510: 4505: 4501: 4496: 4489: 4484: 4482: 4477: 4475: 4470: 4469: 4466: 4454: 4451: 4448: 4447: 4443: 4439: 4438: 4434: 4431: 4427: 4426: 4422: 4419: 4415: 4414: 4410: 4409: 4408: 4406: 4402: 4401: 4394: 4391: 4389: 4386: 4384: 4380: 4377: 4376: 4373: 4369: 4366: 4365: 4363: 4359: 4352: 4348: 4347: 4343: 4342: 4338: 4334: 4330: 4326: 4325: 4321: 4318: 4314: 4313: 4309: 4306: 4302: 4301: 4296: 4293: 4292: 4290: 4286: 4279: 4275: 4274: 4270: 4267: 4263: 4262: 4258: 4255: 4251: 4250: 4246: 4243: 4239: 4238: 4234: 4231: 4227: 4226: 4222: 4219: 4215: 4214: 4210: 4209: 4207: 4205: 4201: 4194: 4190: 4187: 4186: 4182: 4178: 4177: 4173: 4170: 4166: 4165: 4160: 4157: 4156: 4154: 4152: 4148: 4137: 4133: 4132: 4128: 4127: 4125: 4123: 4119: 4112: 4108: 4104: 4101: 4098: 4094: 4090: 4086: 4082: 4079: 4078: 4074: 4070: 4069: 4065: 4064: 4062: 4060: 4056: 4049: 4045: 4041: 4040: 4036: 4033: 4029: 4028: 4024: 4021: 4018: 4016: 4012: 4011: 4007: 4004: 4000: 3996: 3992: 3988: 3987: 3983: 3980: 3976: 3972: 3968: 3964: 3960: 3959: 3955: 3952: 3948: 3944: 3943: 3939: 3936: 3932: 3931: 3927: 3926: 3924: 3922: 3918: 3915: 3912: 3911:growth factor 3906: 3902: 3891: 3887: 3886: 3882: 3881: 3879: 3875: 3868: 3864: 3863: 3859: 3858: 3856: 3852: 3845: 3841: 3840: 3836: 3835: 3833: 3829: 3822: 3818: 3817: 3813: 3810: 3806: 3805: 3801: 3798: 3794: 3790: 3789:ABCD syndrome 3786: 3785: 3781: 3778: 3774: 3773: 3769: 3766: 3762: 3758: 3757: 3753: 3750: 3746: 3742: 3738: 3737: 3733: 3730: 3726: 3725: 3721: 3720: 3718: 3714: 3711: 3708: 3703: 3699: 3694: 3687: 3682: 3680: 3675: 3673: 3668: 3667: 3664: 3652: 3649: 3648: 3646: 3642: 3636: 3633: 3632: 3630: 3628: 3624: 3618: 3615: 3614: 3612: 3610: 3606: 3600: 3597: 3595: 3592: 3591: 3589: 3587: 3583: 3579: 3572: 3567: 3565: 3560: 3558: 3553: 3552: 3549: 3536: 3533: 3529: 3528: 3524: 3523: 3520: 3516: 3509: 3505: 3504: 3500: 3498: 3494: 3493: 3489: 3487: 3484: 3481: 3478: 3475: 3472: 3469: 3466: 3463: 3460: 3457: 3454: 3451: 3448: 3445: 3442: 3439: 3436: 3433: 3430: 3427: 3424: 3421: 3417: 3416: 3412: 3410: 3406: 3405: 3401: 3397: 3395: 3391: 3390: 3386: 3382: 3381: 3378: 3373: 3369: 3363: 3360: 3359: 3347: 3343: 3338: 3333: 3329: 3325: 3321: 3317: 3316:Endocrinology 3313: 3306: 3298: 3294: 3289: 3284: 3280: 3276: 3272: 3268: 3264: 3257: 3249: 3245: 3240: 3235: 3230: 3225: 3221: 3217: 3213: 3206: 3198: 3194: 3190: 3186: 3179: 3171: 3170: 3162: 3160: 3151: 3147: 3143: 3139: 3132: 3130: 3121: 3108: 3100: 3093: 3091: 3082: 3078: 3073: 3068: 3064: 3060: 3056: 3049: 3041: 3037: 3032: 3027: 3023: 3019: 3016:(3): 861–70. 3015: 3011: 3007: 3000: 2992: 2988: 2983: 2978: 2974: 2970: 2966: 2959: 2957: 2948: 2944: 2939: 2934: 2930: 2926: 2922: 2915: 2907: 2903: 2899: 2895: 2891: 2887: 2884:(3): 172–82. 2883: 2879: 2872: 2864: 2860: 2856: 2852: 2849:(3): 158–62. 2848: 2844: 2836: 2828: 2824: 2821:(2): 188–95. 2820: 2816: 2809: 2801: 2797: 2792: 2787: 2783: 2779: 2775: 2771: 2767: 2760: 2752: 2746: 2742: 2735: 2733: 2724: 2718: 2714: 2707: 2705: 2696: 2692: 2685: 2677: 2673: 2668: 2663: 2660:(3): 707–18. 2659: 2655: 2651: 2644: 2636: 2632: 2628: 2624: 2620: 2616: 2612: 2608: 2601: 2593: 2589: 2584: 2579: 2575: 2571: 2567: 2563: 2559: 2552: 2544: 2540: 2535: 2530: 2526: 2522: 2518: 2514: 2510: 2503: 2495: 2491: 2488:(2): 223–39. 2487: 2483: 2476: 2474: 2465: 2461: 2456: 2451: 2446: 2441: 2437: 2433: 2429: 2422: 2414: 2410: 2405: 2400: 2396: 2392: 2389:(5): 1860–2. 2388: 2384: 2380: 2373: 2365: 2361: 2356: 2351: 2346: 2341: 2337: 2333: 2329: 2322: 2314: 2310: 2306: 2302: 2298: 2294: 2290: 2283: 2275: 2271: 2266: 2261: 2258:(4): 534–40. 2257: 2253: 2249: 2242: 2234: 2230: 2225: 2220: 2217:(2): 658–65. 2216: 2212: 2208: 2201: 2193: 2191:9781455759736 2187: 2183: 2176: 2160: 2156: 2150: 2142: 2140:9789401077156 2136: 2132: 2128: 2124: 2117: 2109: 2105: 2100: 2095: 2090: 2085: 2081: 2077: 2073: 2066: 2050: 2049:Rare Diseases 2046: 2040: 2038: 2036: 2027: 2023: 2019: 2015: 2011: 2007: 2004:(7): 249–58. 2003: 1999: 1992: 1990: 1988: 1979: 1975: 1971: 1964: 1956: 1952: 1948: 1944: 1940: 1936: 1932: 1925: 1917: 1913: 1908: 1903: 1899: 1895: 1892:(4): 456–66. 1891: 1887: 1883: 1876: 1874: 1872: 1870: 1861: 1857: 1850: 1848: 1841: 1840:Who Named It? 1837: 1836: 1830: 1828: 1826: 1824: 1822: 1820: 1818: 1809: 1805: 1798: 1796: 1787: 1783: 1778: 1773: 1768: 1763: 1759: 1755: 1751: 1744: 1736: 1732: 1728: 1724: 1720: 1716: 1709: 1707: 1705: 1703: 1701: 1699: 1697: 1695: 1693: 1684: 1680: 1676: 1672: 1668: 1664: 1660: 1656: 1652: 1645: 1637: 1633: 1628: 1623: 1619: 1615: 1611: 1604: 1602: 1600: 1598: 1589: 1585: 1580: 1575: 1571: 1567: 1563: 1556: 1548: 1544: 1539: 1534: 1529: 1524: 1521:(9): 547–64. 1520: 1516: 1512: 1504: 1502: 1500: 1498: 1496: 1494: 1492: 1490: 1488: 1486: 1484: 1482: 1480: 1478: 1476: 1474: 1472: 1470: 1468: 1459: 1455: 1451: 1444: 1442: 1440: 1438: 1436: 1434: 1432: 1430: 1428: 1426: 1424: 1422: 1420: 1418: 1416: 1414: 1412: 1410: 1408: 1406: 1404: 1402: 1400: 1398: 1396: 1394: 1392: 1390: 1388: 1371: 1367: 1361: 1359: 1357: 1355: 1353: 1351: 1349: 1347: 1345: 1336: 1332: 1328: 1324: 1319: 1314: 1310: 1306: 1302: 1295: 1291: 1284: 1282: 1277: 1265: 1262: 1259: 1256: 1252: 1249: 1246: 1244: 1241: 1240: 1239: 1231: 1229: 1225: 1222:In the 1954, 1220: 1218: 1215: 1211: 1207: 1202: 1196: 1192: 1186: 1181: 1179: 1178: 1173: 1167: 1165: 1151: 1147: 1138: 1135: 1126: 1122: 1114: 1112: 1108: 1103: 1101: 1097: 1093: 1089: 1085: 1081: 1077: 1072: 1069: 1061: 1057: 1055: 1051: 1046: 1044: 1040: 1036: 1031: 1029: 1025: 1019: 1017: 1012: 1010: 1006: 1002: 996: 984: 981: 978: 977: 976: 973: 970: 966: 962: 957: 955: 951: 947: 938: 929: 924: 920: 916: 912: 909: 905: 902: 898: 894: 890: 886: 883: 879: 878: 872: 867: 864: 861: 857: 853: 850: 847: 844: 840: 836: 833: 829: 825: 821: 817: 813: 812: 806: 801: 797: 794: 791: 787: 783: 780: 777: 773: 770: 766: 763: 760: 756: 753: 749: 746: 745: 739: 732: 728: 726: 721: 717: 715: 704: 702: 698: 694: 690: 685: 683: 679: 675: 671: 667: 662: 658: 655:in males and 654: 650: 646: 642: 638: 629: 625: 617: 608: 599: 597: 593: 589: 585: 581: 576: 573: 570: 568: 564: 554: 549: 539: 537: 532: 529: 525: 520: 518: 514: 509: 505: 503: 499: 495: 491: 487: 477: 475: 470: 468: 464: 458: 455: 449: 445: 443: 438: 431: 428: 424: 420: 417: 413: 410: 407: 403: 401: 397: 393: 390: 387: 384: 380: 377: 374: 370: 369: 360: 357: 354: 350: 346: 342: 339: 336: 332: 329: 328:gonadotropins 325: 322: 319: 316: 313: 310: 307: 303: 299: 296: 293: 292: 286: 283: 281: 277: 269: 264: 256: 247: 238: 236: 232: 229: 225: 221: 210: 208: 198: 195: 191: 187: 183: 179: 169: 167: 163: 159: 155: 151: 147: 143: 139: 135: 131: 127: 118: 114: 110: 106: 103: 99: 95: 91: 88: 85: 81: 78: 75: 73: 72:Complications 69: 66: 62: 58: 54: 52: 48: 45: 44:Endocrinology 42: 40: 36: 32: 28: 23: 4816: 4786: 4758: 4730: 4717: 4704: 4691: 4668: 4657:Dyslipidemia 4655: 4637: 4614: 4435: 4423: 4411: 4398: 4397: 4344: 4322: 4310: 4298: 4271: 4259: 4247: 4235: 4223: 4211: 4204:TNF receptor 4174: 4162: 4129: 4066: 4037: 4025: 4008: 3984: 3956: 3950: 3940: 3928: 3883: 3860: 3837: 3814: 3802: 3782: 3770: 3754: 3734: 3722: 3695:deficiencies 3593: 3586:Gonadotropin 3525: 3501: 3490: 3413: 3398: 3383: 3319: 3315: 3305: 3270: 3266: 3256: 3219: 3215: 3205: 3188: 3184: 3178: 3168: 3141: 3107:cite journal 3101:. eMedicine. 3062: 3058: 3048: 3013: 3009: 2999: 2972: 2968: 2931:(6): 731–7. 2928: 2924: 2914: 2881: 2877: 2871: 2846: 2842: 2835: 2818: 2814: 2808: 2773: 2769: 2759: 2740: 2712: 2694: 2684: 2657: 2653: 2643: 2610: 2606: 2600: 2565: 2561: 2551: 2516: 2512: 2502: 2485: 2481: 2438:(109): 109. 2435: 2431: 2421: 2386: 2382: 2372: 2335: 2331: 2321: 2288: 2282: 2255: 2251: 2241: 2214: 2210: 2200: 2181: 2175: 2165:December 17, 2163:. Retrieved 2158: 2149: 2122: 2116: 2082:(3): 331–8. 2079: 2075: 2065: 2055:December 16, 2053:. Retrieved 2048: 2001: 1997: 1969: 1963: 1938: 1934: 1924: 1889: 1885: 1859: 1855: 1833: 1807: 1803: 1757: 1753: 1743: 1718: 1714: 1658: 1654: 1644: 1617: 1613: 1572:(818): 7–8. 1569: 1565: 1555: 1538:11567/821921 1518: 1514: 1449: 1376:December 17, 1374:. Retrieved 1369: 1308: 1304: 1294: 1274: 1237: 1221: 1203: 1200: 1183: 1176: 1168: 1161: 1136: 1132: 1129:Epidemiology 1123: 1120: 1104: 1073: 1070: 1067: 1058: 1047: 1032: 1020: 1013: 997: 993: 974: 965:gonadotropin 958: 943: 928: 919:osteoporosis 893:hypothalamus 871: 839:hypothalamus 824:testosterone 805: 790:cleft palate 752:Tanner stage 737: 722: 718: 710: 686: 666:gonadotropin 661:progesterone 653:testosterone 649:sex hormones 634: 577: 574: 571: 559: 533: 521: 510: 506: 494:bone density 486:osteoporosis 483: 480:Osteoporosis 474:mini-puberty 471: 459: 450: 446: 439: 435: 396:ectrodactyly 379:Cleft palate 353:progesterone 345:testosterone 341:Hypogonadism 306:menstruation 284: 273: 244: 216: 204: 194:progesterone 188:in males or 186:testosterone 182:hypothalamus 175: 166:osteoporosis 158:hypogonadism 129: 125: 124: 109:Gonadotropin 77:Osteoporosis 4570:Hematologic 3705:(including 3627:Vasopressin 3191:: 1267–72. 3142:GeneReviews 2338:: 4602129. 1253:idiopathic/ 1234:Terminology 1157: 1950 1039:haematocrit 1030:) healthy. 1024:endometrium 771:in females. 761:) in males. 725:amenorrhoea 590:, bimanual 563:inheritance 359:Infertility 302:amenorrhoea 268:Jimmy Scott 83:Usual onset 61:infertility 30:Other names 5086:Categories 4639:Amino acid 3908:(including 3503:DiseasesDB 1862:: 211–221. 1810:: 203–236. 1287:References 1276:Kisspeptin 1224:De Morsier 1217:geneticist 1107:maturation 1005:androgenic 961:micropenis 923:osteopenia 848:Sperm test 592:synkinesis 490:osteopenia 406:synkinesis 347:in men or 315:Micropenis 231:geneticist 4630:Metabolic 4598:Endocrine 4497:disorders 4261:TNFRSF13B 4249:TNFRSF13C 4225:TNFRSF13B 3527:eMedicine 1955:0003-4266 1835:synd/2549 1675:1663-2818 1588:2605-2083 1327:0021-972X 1117:Prognosis 1050:inhibin B 1035:inhibin B 932:Treatment 897:pituitary 866:Karyotype 843:pituitary 832:prolactin 828:oestrogen 809:Lab tests 786:cleft lip 707:Diagnosis 676:(LH) and 672:known as 657:oestrogen 528:vitamin D 522:Adequate 467:gestation 454:normosmic 400:scoliosis 383:cleft lip 355:in women. 349:oestrogen 237:in 1856. 201:Treatment 162:infertile 116:Frequency 101:Treatment 39:Specialty 4911:Urologic 4886:Duchenne 4495:X-linked 4449:See also 4379:Integrin 4213:TNFRSF1A 4151:JAK-STAT 4085:Endoglin 3535:med/1342 3532:med/1216 3346:23015291 3297:24615662 3248:25071724 3197:14099201 3150:20301509 3081:26792935 3040:24423288 2991:29330225 2947:19912242 2898:22009162 2863:20363464 2827:27213784 2800:15802728 2676:22392951 2627:23207503 2592:20940512 2543:21664415 2494:26934720 2464:25071724 2413:23650337 2364:28408926 2313:11467429 2305:29258769 2274:22248317 2108:22629495 2026:23578201 2018:21511493 1978:24683946 1916:26790381 1786:21682876 1735:28476224 1683:12006717 1636:24836550 1547:26194704 1458:20301509 1335:10443662 1271:Research 1214:American 1188:—  1001:anabolic 862:testing. 769:menarche 631:​) 584:x-linked 542:Genetics 463:placenta 423:coloboma 300:Primary 241:Etiology 228:American 190:estrogen 96:Lifelong 93:Duration 51:Symptoms 4732:Mineral 4372:AGM3, 6 4273:TNFRSF6 4237:TNFRSF5 3877:Class F 3854:Class C 3831:Class B 3716:Class A 3707:hormone 3644:General 3497:D017436 3450:1527600 3337:3473216 3288:4063702 3239:4088923 3222:: 109. 3031:3942233 2906:4564169 2635:5159169 2583:2947242 2534:3185214 2455:4088923 2404:3644595 2355:5376477 2233:9024272 2099:3354836 1907:4722398 1777:3143089 1141:History 1111:ovaries 1086:, FSH, 1056:(AMH). 788:and/or 778:(UPSIT) 588:anosmia 524:calcium 404:Manual 373:anosmia 276:puberty 266:Singer 180:by the 138:puberty 134:genetic 132:) is a 111:therapy 57:puberty 4817:Other: 4517:Immune 4425:BMPR1A 4176:CSF2RA 4131:GUCY2D 4107:TGFBR2 4103:TGFBR1 3816:PTGER2 3486:607984 3483:602748 3480:606807 3477:603725 3474:604808 3471:613301 3468:603286 3465:300473 3462:608892 3459:608137 3456:164160 3453:162330 3447:614880 3444:615270 3441:615271 3438:136350 3435:146110 3432:607002 3429:138850 3426:244200 3423:147950 3420:308700 3344:  3334:  3295:  3285:  3246:  3236:  3195:  3148:  3079:  3038:  3028:  2989:  2945:  2904:  2896:  2861:  2825:  2798:  2791:555895 2788:  2747:  2719:  2674:  2633:  2625:  2590:  2580:  2541:  2531:  2492:  2462:  2452:  2411:  2401:  2362:  2352:  2311:  2303:  2272:  2231:  2188:  2137:  2106:  2096:  2024:  2016:  1976:  1953:  1914:  1904:  1784:  1774:  1733:  1681:  1673:  1634:  1586:  1545:  1456:  1333:  1325:  1281:KISS1R 1210:German 1080:testes 1028:uterus 954:libido 887:Brain 621:(from 427:ptosis 224:German 4943:tooth 4830:SMAX2 4437:IL2RG 4413:PTCH1 4266:CVID2 4254:CVID4 4093:SMAD4 4089:Alk-1 4068:AMHR2 4027:NTRK1 3986:FGFR3 3958:FGFR2 3942:FGFR1 3839:PTH1R 3804:AVPR2 3784:EDNRB 3772:GnRHR 3736:LHCGR 3409:253.4 3394:E23.0 2902:S2CID 2631:S2CID 2309:S2CID 2022:S2CID 1257:(IHH) 1250:(CHH) 1076:sperm 1009:Nasal 882:x-ray 611:time. 580:ANOS1 517:X-ray 4939:Bone 4840:Skin 4780:PHF8 4550:IPEX 4400:EDAR 4383:LAD1 4346:LDLR 4324:LRP5 4312:LRP4 4300:LRP2 4059:STPK 4010:INSR 3930:ROR2 3885:FZD4 3862:CASR 3756:FSHR 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Index

Specialty
Endocrinology
Symptoms
puberty
infertility
inability to smell
Complications
Osteoporosis
Present at birth
Hormone replacement therapy
Gonadotropin
genetic
puberty
hypogonadotropic hypogonadism
total lack of sense of smell
reduced sense of smell
secondary sexual characteristics
hypogonadism
infertile
osteoporosis
gonadotropin-releasing hormone
hypothalamus
testosterone
estrogen
progesterone
Hormone replacement therapy
Franz Josef Kallmann
German
American
geneticist

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