53:
241:
77:
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typical male external genital development, cases of genital ambiguity may be treated with hormonal therapy, surgery, or both. In some cases, gonadal surgery can be performed to remove partial or whole female genitalia. This may be followed by plastic and reconstructive surgery to make the individual appear more externally male. Conversely, the individual may wish to become more feminine and feminizing genitoplasty can be performed to make the ambiguous genitalia appear more female.
217:
558:
274:. This form of the condition is called SRY-negative 46,XX testicular disorder of sex development. The cause of the disorder in these individuals is often unknown, although changes affecting other genes have been identified. Individuals with SRY-negative 46,XX testicular disorder of sex development are more likely to have ambiguous genitalia than are people with the SRY-positive form.
232:) from the Y chromosome; this gene causes them to develop a male phenotype despite having chromosomes more typical of females. Some XX males, however, do not have the SRY gene (SRY-negative); the reason a male phenotype develops in these individuals is poorly understood, and subject to further research.
277:
The exact cause of this condition is unknown, but three theories have been proposed: first, undetected gonadal mosaicism for SRY; second, de-repression of male development due to mutations in genes on chromosomes other than the Y chromosome; third, altered expression of other genes downstream of SRY,
185:
Based on limited evidence, most XX males appear to have typical body and pubic hair, penis size, libido, and erectile function. In all reported cases, individuals have been sterile, with azoospermia (no sperm in the ejaculate). One study found spermatogonia — undifferentiated cells which develop into
169:
While there is some degree of variability, a vast majority of XX males have a typical male phenotype, with male-typical external genitalia, making early diagnosis uncommon. Genital ambiguity is seen most commonly in men without the SRY gene/other Y chromosome-derived genes, though reported rates are
204:
during which one copy of the X chromosome is silenced. It is thought that X inactivation in XX males may account for the genital ambiguities and incomplete masculinization seen in SRY-positive XX males. The X chromosome with the SRY gene is preferentially chosen to be the active X chromosome 90% of
360:
Treatments are generally focused on affirming the gender presentation of affected men, vary to a large degree based on the phenotype of the individual, and may include counselling. In some XX males, testosterone therapy may be used to increase virilisation. While the vast majority of XX males have
314:
Most XX males have a typical male-type phenotype at birth, so diagnosis tends to occur either at the onset of puberty, if traits such as gynaecomastia develop and are investigated, or later, when investigating infertility. Diagnosis at birth occurs more frequently in SRY-negative XX males, who are
261:
occurs in which the SRY gene becomes part of the X chromosome. If a fetus is conceived from a sperm cell with an X chromosome bearing the SRY gene, it will develop as a male despite not having a Y chromosome. This form of the condition is called SRY-positive 46,XX testicular disorder of sex
310:
There is no consensus on the diagnostic criteria; diagnosis typically involves evaluating the individual's physical development in combination with karyotyping, and presence of the SRY gene or associated genes, such as SOX9. Tests for hormone levels and azoospermia may also be completed.
252:
The condition results from an abnormal exchange of genetic material between chromosomes (translocation). This exchange occurs as a random event during the formation of sperm cells in the affected person's father. The tip of the Y chromosome contains the SRY gene and, during
186:
sperm — present in some XX male children, the oldest of which was 5 years old, but none in the older XX males tested. Multiple studies in mice have also found largely normal male-type germ cells in XX males soon after birth, but a progressive loss with maturation.
784:
Berglund A, Johannsen TH, Stochholm K, Aksglaede L, Fedder J, Viuff MH, et al. (August 2017). "Incidence, prevalence, diagnostic delay, morbidity, mortality and socioeconomic status in males with 46,XX disorders of sex development: a nationwide study".
205:
the time, which explains complete male phenotype being observed often in SRY-positive XX males. In the remaining 10%, however, X inactivation occurs on the X chromosome with the SRY gene, thereby silencing it and resulting in incomplete masculinization.
1988:
Ryan NA, Akbar S (April 2013). "A case report of an incidental finding of a 46,XX, SRY-negative male with masculine phenotype during standard fertility workup with review of the literature and proposed immediate and long-term management guidance".
182:. In most SRY-positive men, there are few significant signs before puberty, though small testes appear an almost universal finding; following puberty, some XX males develop gynaecomastia. XX males appear to be shorter on average than XY males.
248:
The SRY gene, normally found on the Y chromosome, plays an important role in sex determination by initiating testicular development. In about 80 percent of XX males, the SRY gene is present on one of the X chromosomes.
1349:
Bouayed
Abdelmoula N, Portnoi MF, Keskes L, Recan D, Bahloul A, Boudawara T, et al. (2003-01-01). "Skewed X-chromosome inactivation pattern in SRY positive XX maleness: a case report and review of literature".
1180:
Toublanc JE, Boucekkine C, Abbas N, Barama D, Vilain E, McElreavey K, et al. (February 1993). "Hormonal and molecular genetic findings in 46,XX subjects with sexual ambiguity and testicular differentiation".
2081:
1216:
Ishii M, Tachiwana T, Hoshino A, Tsunekawa N, Hiramatsu R, Matoba S, et al. (February 2007). "Potency of testicular somatic environment to support spermatogenesis in XX/Sry transgenic male mice".
189:
Due to its often-subtle presentation, many XX males remain undiagnosed until seeking treatment for infertility in adulthood; it's likely a significant proportion of cases remain undiagnosed.
1432:
Ergun-Longmire B, Vinci G, Alonso L, Matthew S, Tansil S, Lin-Su K, et al. (August 2005). "Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature".
157:. Medical treatment of the condition varies, with medical treatment usually not necessary. The alternative name for XX male syndrome, de la Chapelle syndrome, refers to Finnish scientist
1782:
322:, or labioscrotal folds, exploratory surgery may be used to determine if male and/or female internal genitalia is present. Indicators include two testes which have not descended the
1519:
Margarit E, Coll MD, Oliva R, GĂłmez D, Soler A, Ballesta F (January 2000). "SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite".
2212:
228:
cell of their bodies. Females typically have two X chromosomes. XX males that are SRY-positive have two X chromosomes, with one of them containing genetic material (the
655:
2956:
544:
2936:
2932:
2170:
299:
1953:
Kurita M, Aiba E, Matsumoto D, Sato K, Nagase T, Yoshimura K (May 2006). "Feminizing genitoplasty for treatment of XX male with masculine genitalia".
676:
Andersson M, Page DC, de la
Chapelle A (August 1986). "Chromosome Y-specific DNA is transferred to the short arm of X chromosome in human XX males".
282:
gene may contribute to this syndrome, as SOX9 plays a role in testes differentiation during development. Another proposed cause is mutations to the
583:
1774:
372:
It is estimated that 1 of every 20,000 to 30,000 males has a 46,XX karyotype, making it much less common than other related syndromes, such as
364:
There is no treatment for infertility in XX males - supportive management and alternatives such as sperm donation or adoption are recommended.
208:
Masculinization of SRY-negative XX males is dependent upon which genes have mutations and at what point in development these mutations occur.
1932:
1688:
Swain A, Narvaez V, Burgoyne P, Camerino G, Lovell-Badge R (February 1998). "Dax1 antagonizes Sry action in mammalian sex determination".
200:
Masculinization of SRY-positive XX males is believed to be dependent on which X chromosome is made inactivate. Typical XX females undergo
2739:
1532:
197:
The degree to which individuals with XX male syndrome develop the male phenotype is variable, even among SRY-positive individuals.
2163:
17:
611:. In Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean L, Bird TD, Fong CT, Mefford HC, Smith R, Stephens K (eds.).
1073:
496:"Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients"
647:
2852:
2096:
994:"A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development"
624:
2993:
2156:
349:
153:
This syndrome is diagnosed and occurs in approximately 1:20,000 new-born males, making it much less common than
2842:
1295:
Kusz K, Kotecki M, Wojda A, Szarras-Czapnik M, Latos-Bielenska A, Warenik-Szymankiewicz A, et al. (June 1999).
2425:
396:
858:
Delachapelle A, Hortling H, Niemi M, Wennstroem J (1964-01-12). "XX sex chromosomes in a human male. First case".
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2312:
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2761:
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1653:
Brazilian
Journal of Medical and Biological Research = Revista Brasileira de Pesquisas Medicas e Biologicas
411:
2998:
2952:
2940:
2320:
2207:
52:
2136:
2059:
GeneReviews/NCBI/NIH/UW entry on 46,XY Disorder of Sex
Development and 46,XY Complete Gonadal Dysgenesis
2699:
2397:
2393:
575:
240:
1145:
Castiñeyra G, Copelli S, Levalle O (January 2002). "46,XX male: clinical, hormonal/genetic findings".
823:
Berglund A, Stochholm K, Gravholt CH (June 2020). "The epidemiology of sex chromosome abnormalities".
2866:
2828:
2627:
2462:
258:
229:
2316:
2107:
385:
318:
In cases where the individual is being evaluated for ambiguous genitalia, such as a small phallus,
254:
76:
1902:
1595:
Vetro A, Ciccone R, Giorda R, Patricelli MG, Della Mina E, Forlino A, et al. (October 2011).
2882:
2874:
2860:
2846:
2804:
2725:
2437:
938:
Terribile M, Stizzo M, Manfredi C, Quattrone C, Bottone F, Giordano DR, et al. (July 2019).
127:
2328:
2179:
1901:
Parada-Bustamante A, RĂos R, Ebensperger M, Lardone MC, Piottante A, Castro A (November 2010).
1647:
Domenice S, CorrĂŞa RV, Costa EM, Nishi MY, Vilain E, Arnhold IJ, et al. (January 2004).
1297:"Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome"
401:
158:
123:
270:
About 20 percent of those with 46 XX testicular disorder of sex development do not have the
2683:
2608:
2547:
2353:
1697:
1005:
685:
373:
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determine that an individual with a partial or complete male phenotype has an XX genotype.
327:
154:
8:
2856:
2669:
2303:
940:"46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review"
1701:
1390:"SRY-negative 46,XX male with normal genitals, complete masculinization and infertility"
1009:
689:
2983:
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2948:
2944:
2908:
2903:
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resulting in masculinisation. For example, it has been proposed that mutations in the
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2539:
2458:
2413:
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2369:
2006:
2002:
1970:
1924:
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1162:
1127:
1096:"46 XX karyotype during male fertility evaluation; case series and literature review"
1069:
1033:
1028:
993:
971:
913:
896:
FrĂĽhmesser A, Kotzot D (2011-04-29). "Chromosomal variants in klinefelter syndrome".
875:
840:
802:
747:
701:
616:
517:
459:
330:. External indicators include decreased body weight, gynecomastia, and small testes.
122:
gene, which triggers male reproductive development, being atypically included in the
65:
1665:
1648:
759:
713:
2810:
2687:
2655:
2286:
1998:
1962:
1914:
1873:
1865:
1824:
1816:
1725:
1705:
1660:
1649:"Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients"
1616:
1608:
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1528:
1491:
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693:
507:
449:
70:
2028:
1612:
1556:"46, XX male sex reversal syndrome: a case report and review of the genetic basis"
1251:
Cattanach BM, Pollard CE, Hawker SG (1971). "Sex-reversed mice: XX and XO males".
1065:
2927:
2516:
2112:
1388:
Rajender S, Rajani V, Gupta NJ, Chakravarty B, Singh L, Thangaraj K (May 2006).
2601:
2567:
2562:
2237:
1445:
998:
Proceedings of the
National Academy of Sciences of the United States of America
344:
The presence and location of the SRY gene can by determined using fluorescence
323:
201:
179:
2090:
2058:
2053:
1158:
608:
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2054:
GeneReviews/NCBI/NIH/UW entry on 46,XX Testicular
Disorder of Sex Development
1740:
1112:
956:
562:
139:
1869:
1739:
DĂ©lot EC, Vilain EJ (1993), Adam MP, Feldman J, Mirzaa GM, Pagon RA (eds.),
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1389:
798:
697:
494:
Vorona E, Zitzmann M, Gromoll J, SchĂĽring AN, Nieschlag E (September 2007).
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2010:
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10.1002/(sici)1096-8628(20000103)90:1<25::aid-ajmg5>3.0.co;2-5
1272:
1202:
1037:
825:
American
Journal of Medical Genetics. Part C, Seminars in Medical Genetics
751:
705:
463:
298:
genes have also been studied in connection with SRY-negative 46 XX female
150: or X chromosomal gene. The masculinization of XX males is variable.
2613:
2584:
2579:
2476:
2029:"Ambiguous Genitalia. Uncertain genetalia information. Patient | Patient"
1312:
1094:
Majzoub A, Arafa M, Starks C, Elbardisi H, Al Said S, Sabanegh E (2017).
836:
512:
495:
319:
287:
171:
1820:
1741:"Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development"
609:"Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development"
541:"46,XX testicular disorder of sex development - Genetics Home Reference"
216:
2733:
2729:
2535:
2281:
2259:
2249:
1900:
1487:
1194:
992:
McElreavey K, Vilain E, Abbas N, Herskowitz I, Fellous M (April 1993).
743:
291:
175:
27:
Congenital condition where an individual with a 46,XX karyotype is male
2073:
1264:
1229:
909:
730:
de la
Chapelle A (August 1981). "The etiology of maleness in XX men".
326:, although this is seen in a minority of XX males, and the absence of
2574:
2530:
2222:
2217:
438:"Analytic review: nature and origin of males with XX sex chromosomes"
406:
334:
147:
102:
98:
1348:
648:"46,XX testicular disorder of sex development: MedlinePlus Genetics"
290:
of DAX1, then testes can develop in an XX individual. Mutations in
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2640:
2636:
2508:
2187:
2131:
857:
783:
271:
224:
Males typically have one X chromosome and one Y chromosome in each
94:
1709:
112:
In 90 percent of these individuals, the syndrome is caused by the
2743:
2526:
2199:
561:
This article incorporates text from this source, which is in the
225:
146:-negative XX males, which can be caused by a mutation in an
131:
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991:
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2800:
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1093:
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279:
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inconsistent. These ambiguities can include traits such as
1344:
1342:
1340:
2659:
1851:
1597:"XX males SRY negative: a confirmed cause of infertility"
1472:"46,XX male disorder of sexual development:a case report"
822:
118:
1646:
1144:
576:"Orphanet: 46,XX testicular disorder of sex development"
286:
gene, which may suppress masculinisation; if there is a
1952:
1852:
Ahmad A, Siddiqui MA, Goyal A, Wangnoo SK (July 2012).
1554:
Wang T, Liu JH, Yang J, Chen J, Ye ZQ (February 2009).
1476:
Journal of
Clinical Research in Pediatric Endocrinology
1337:
1894:
1803:
Lisker R, Flores F, Cobo A, Rojas FG (December 1970).
1518:
1427:
1425:
1250:
1802:
725:
723:
138:
gene combines with a normal X from the mother during
2063:
500:
The
Journal of Clinical Endocrinology and Metabolism
126:
of genetic information that takes place between the
1747:, Seattle (WA): University of Washington, Seattle,
1469:
1434:
Journal of Pediatric Endocrinology & Metabolism
1422:
393:, for other conditions related to the X chromosome.
244:
An example of translocation between two chromosomes
987:
985:
891:
889:
720:
933:
931:
929:
927:
2975:
1642:
1640:
1470:Anık A, Çatlı G, Abacı A, Böber E (2013-12-10).
1383:
1381:
895:
818:
816:
1553:
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1087:
1085:
982:
886:
779:
777:
775:
773:
771:
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924:
729:
435:
107:46,XX testicular difference of sex development
97:condition in which an individual with a 46,XX
2918:46,XX testicular disorders of sex development
2164:
1637:
1378:
813:
489:
487:
485:
483:
481:
479:
477:
475:
473:
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1465:
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1290:
1288:
1286:
1284:
1282:
1082:
1051:
1049:
1047:
766:
602:
600:
142:, the result is an XX male. Less common are
2740:Acute myeloblastic leukemia with maturation
1946:
1796:
1738:
606:
2171:
2157:
1779:Online Mendelian Inheritance in Man (OMIM)
470:
75:
51:
1987:
1918:
1877:
1828:
1664:
1620:
1571:
1495:
1460:
1405:
1320:
1279:
1121:
1111:
1058:Atlas of Genetic Diagnosis and Counseling
1044:
1027:
1017:
965:
955:
597:
511:
453:
315:more likely to have ambiguous genitalia.
431:
429:
427:
239:
215:
105:. Synonyms for XX male syndrome include
1903:"46,XX/SRY-negative true hermaphrodite"
1769:
1767:
14:
2976:
2152:
615:. University of Washington, Seattle.
535:
533:
531:
424:
164:
161:, who first described the condition.
1854:"Is 46XX karyotype always a female?"
1764:
1521:American Journal of Medical Genetics
1055:
627:from the original on 18 January 2017
2853:Desmoplastic small-round-cell tumor
134:in the father. When the X with the
24:
2102:300833 400045 278850 300833 400045
2021:
1967:10.1097/01.prs.0000214653.30135.a1
1955:Plastic and Reconstructive Surgery
872:10.1111/j.0954-6820.1964.tb04630.x
528:
442:American Journal of Human Genetics
192:
130:of the X and Y chromosomes during
25:
3015:
2047:
436:de la Chapelle A (January 1972).
2426:22q11.2 distal deletion syndrome
2003:10.1016/j.fertnstert.2012.11.040
1920:10.1016/j.fertnstert.2010.03.066
1573:10.1111/j.1439-0272.2008.00889.x
556:
397:Sex-determining region Y protein
2825:Dermatofibrosarcoma protuberans
2768:Acute megakaryoblastic leukemia
2696:Anaplastic large-cell lymphoma
2358:Chromosome 5q deletion syndrome
1981:
1935:from the original on 2019-12-13
1845:
1785:from the original on 2019-12-13
1732:
1681:
1666:10.1590/S0100-879X2004000100020
1588:
1547:
1512:
1244:
1209:
1173:
1138:
851:
658:from the original on 2020-09-15
586:from the original on 2017-01-13
547:from the original on 2019-05-17
367:
265:
235:
1183:European Journal of Pediatrics
669:
640:
568:
13:
1:
2548:Klinefelter syndrome (47,XXY)
2313:1q21.1 copy number variations
1775:"46,XX SEX REVERSAL 1; SRXX1"
1613:10.1136/jmedgenet-2011-100036
1364:10.1016/S0003-3995(03)00011-X
1066:10.1007/978-1-4614-1037-9_250
417:
2754:Acute promyelocytic leukemia
2710:Acute lymphoblastic leukemia
2402:17q12 microdeletion syndrome
2277:22q11.2 duplication syndrome
2255:16p11.2 duplication syndrome
1805:"A case of XX male syndrome"
1394:Molecular Human Reproduction
607:DĂ©lot EC, Vilain EJ (2003).
412:Disorders of sex development
355:
305:
7:
2321:1q21.1 duplication syndrome
2208:1q21.1 duplication syndrome
1809:Journal of Medical Genetics
1601:Journal of Medical Genetics
1301:Journal of Medical Genetics
379:
211:
10:
3020:
1446:10.1515/jpem.2005.18.8.739
1100:Asian Journal of Andrology
1056:Chen H (2012). "XX Male".
2994:Chromosomal abnormalities
2896:
2867:Alveolar rhabdomyosarcoma
2789:
2718:
2648:
2635:
2626:
2602:XYYYY syndrome (49,XYYYY)
2568:XXXXY syndrome (49,XXXXY)
2563:XXXYY syndrome (49,XXXYY)
2525:
2507:
2493:
2302:
2195:
2186:
2122:
2067:
1159:10.1080/01485010290031556
64:
59:
50:
42:
37:
2342:Wolf–Hirschhorn syndrome
2317:1q21.1 deletion syndrome
2180:Chromosome abnormalities
1913:(6): 2330.e13–2330.e16.
1113:10.4103/1008-682X.181224
957:10.3390/medicina55070371
860:Acta Medica Scandinavica
386:Sex chromosome anomalies
2726:Philadelphia chromosome
2597:XYYY syndrome (48,XYYY)
2558:XXXY syndrome (48,XXXY)
2553:XXYY syndrome (48,XXYY)
2438:22q13 deletion syndrome
2213:2q31.1 microduplication
1991:Fertility and Sterility
1907:Fertility and Sterility
1870:10.1136/bcr-2012-006223
698:10.1126/science.3738510
128:pseudoautosomal regions
91:de la Chapelle syndrome
46:De la Chapelle syndrome
18:De la Chapelle syndrome
2585:Pentasomy X (49,XXXXX)
2517:Turner syndrome (45,X)
2398:Smith–Magenis syndrome
2394:Miller–Dieker syndrome
2329:1p36 deletion syndrome
1060:. pp. 2191–2196.
1019:10.1073/pnas.90.8.3368
245:
221:
2592:XYY syndrome (47,XYY)
2580:Tetrasomy X (48,XXXX)
2463:Prader–Willi syndrome
1407:10.1093/molehr/gal030
1147:Archives of Andrology
799:10.1093/humrep/dex210
402:XY gonadal dysgenesis
243:
219:
159:Albert de la Chapelle
60:Human karyotype 46 XX
3004:Congenital disorders
2684:Mantle cell lymphoma
2354:Cri du chat syndrome
1352:Annales de Génétique
1313:10.1136/jmg.36.6.452
1189:(Suppl 2): S70–S75.
866:(SUPPL 412): 25–28.
837:10.1002/ajmg.c.31805
513:10.1210/jc.2007-0447
374:Klinefelter syndrome
337:can be completed to
155:Klinefelter syndrome
2989:Intersex variations
2670:Follicular lymphoma
1821:10.1136/jmg.7.4.394
1702:1998Natur.391..761S
1010:1993PNAS...90.3368M
690:1986Sci...233..786A
2999:Testicle disorders
2909:Uniparental disomy
2904:Fragile X syndrome
2839:Myxoid liposarcoma
2691:t(11 CCND1:14 IGH)
2575:Trisomy X (47,XXX)
2453:genomic imprinting
2233:Distal trisomy 10q
2123:External resources
1488:10.4274/Jcrpe.1098
1195:10.1007/BF02125443
898:Sexual Development
787:Human Reproduction
744:10.1007/bf00284157
246:
222:
165:Signs and symptoms
2971:
2970:
2923:Marker chromosome
2892:
2891:
2785:
2784:
2622:
2621:
2489:
2488:
2459:Angelman syndrome
2414:DiGeorge syndrome
2382:Jacobsen syndrome
2370:Williams syndrome
2146:
2145:
1864:: bcr2012006223.
1696:(6669): 761–767.
1265:10.1159/000130151
1230:10.1242/dev.02751
1075:978-1-4614-1036-2
910:10.1159/000327324
684:(4765): 786–788.
84:
83:
32:Medical condition
16:(Redirected from
3011:
2914:XX male syndrome
2811:Synovial sarcoma
2688:Multiple myeloma
2656:Burkitt lymphoma
2646:
2645:
2633:
2632:
2536:other karyotypes
2505:
2504:
2287:Cat-eye syndrome
2193:
2192:
2173:
2166:
2159:
2150:
2149:
2065:
2064:
2043:
2041:
2039:
2015:
2014:
1997:(5): 1273–1276.
1985:
1979:
1978:
1961:(6): 107e–111e.
1950:
1944:
1943:
1941:
1940:
1922:
1898:
1892:
1891:
1881:
1858:BMJ Case Reports
1849:
1843:
1842:
1832:
1800:
1794:
1793:
1791:
1790:
1771:
1762:
1761:
1760:
1759:
1736:
1730:
1729:
1685:
1679:
1678:
1668:
1644:
1635:
1634:
1624:
1592:
1586:
1585:
1575:
1551:
1545:
1544:
1516:
1510:
1509:
1499:
1467:
1458:
1457:
1429:
1420:
1419:
1409:
1385:
1376:
1375:
1346:
1335:
1334:
1324:
1292:
1277:
1276:
1248:
1242:
1241:
1213:
1207:
1206:
1177:
1171:
1170:
1142:
1136:
1135:
1125:
1115:
1091:
1080:
1079:
1053:
1042:
1041:
1031:
1021:
1004:(8): 3368–3372.
989:
980:
979:
969:
959:
935:
922:
921:
893:
884:
883:
855:
849:
848:
820:
811:
810:
793:(8): 1751–1760.
781:
764:
763:
727:
718:
717:
673:
667:
666:
664:
663:
644:
638:
636:
634:
632:
604:
595:
594:
592:
591:
572:
566:
560:
559:
555:
553:
552:
537:
526:
525:
515:
506:(9): 3458–3465.
491:
468:
467:
457:
433:
328:MĂĽllerian tissue
300:xx male syndrome
288:loss of function
101:develops a male
89:, also known as
87:XX male syndrome
80:
79:
71:Medical genetics
55:
38:XX male syndrome
35:
34:
21:
3019:
3018:
3014:
3013:
3012:
3010:
3009:
3008:
2974:
2973:
2972:
2967:
2928:Ring chromosome
2888:
2781:
2714:
2618:
2534:
2521:
2485:
2298:
2197:
2182:
2177:
2147:
2142:
2141:
2118:
2117:
2076:
2050:
2037:
2035:
2027:
2024:
2022:Further reading
2019:
2018:
1986:
1982:
1951:
1947:
1938:
1936:
1899:
1895:
1850:
1846:
1801:
1797:
1788:
1786:
1773:
1772:
1765:
1757:
1755:
1737:
1733:
1686:
1682:
1645:
1638:
1607:(10): 710–712.
1593:
1589:
1552:
1548:
1517:
1513:
1468:
1461:
1430:
1423:
1386:
1379:
1347:
1338:
1293:
1280:
1249:
1245:
1214:
1210:
1178:
1174:
1143:
1139:
1092:
1083:
1076:
1054:
1045:
990:
983:
936:
925:
894:
887:
856:
852:
821:
814:
782:
767:
728:
721:
674:
670:
661:
659:
652:medlineplus.gov
646:
645:
641:
630:
628:
605:
598:
589:
587:
574:
573:
569:
557:
550:
548:
539:
538:
529:
492:
471:
434:
425:
420:
382:
370:
358:
348:hybridization (
339:cytogenetically
308:
268:
238:
214:
195:
193:Masculinization
167:
109:(or 46,XX DSD)
74:
33:
28:
23:
22:
15:
12:
11:
5:
3017:
3007:
3006:
3001:
2996:
2991:
2986:
2969:
2968:
2966:
2965:
2964:
2963:
2925:
2920:
2911:
2906:
2900:
2898:
2894:
2893:
2890:
2889:
2887:
2886:
2864:
2850:
2836:
2822:
2808:
2793:
2791:
2787:
2786:
2783:
2782:
2780:
2779:
2765:
2751:
2737:
2722:
2720:
2716:
2715:
2713:
2712:
2707:
2693:
2681:
2667:
2652:
2650:
2643:
2630:
2628:Translocations
2624:
2623:
2620:
2619:
2617:
2616:
2611:
2605:
2604:
2599:
2594:
2588:
2587:
2582:
2577:
2571:
2570:
2565:
2560:
2555:
2550:
2544:
2542:
2523:
2522:
2520:
2519:
2513:
2511:
2502:
2491:
2490:
2487:
2486:
2484:
2483:
2473:
2472:
2471:
2470:
2448:
2447:
2446:
2445:
2435:
2434:
2433:
2423:
2422:
2421:
2411:
2410:
2409:
2391:
2390:
2389:
2379:
2378:
2377:
2367:
2366:
2365:
2351:
2350:
2349:
2339:
2338:
2337:
2308:
2306:
2300:
2299:
2297:
2296:
2295:
2294:
2284:
2279:
2274:
2273:
2272:
2262:
2257:
2252:
2247:
2246:
2245:
2238:Patau syndrome
2235:
2230:
2225:
2220:
2215:
2210:
2204:
2202:
2190:
2184:
2183:
2176:
2175:
2168:
2161:
2153:
2144:
2143:
2140:
2139:
2127:
2126:
2124:
2120:
2119:
2116:
2115:
2104:
2093:
2077:
2072:
2071:
2069:
2068:Classification
2062:
2061:
2056:
2049:
2048:External links
2046:
2045:
2044:
2023:
2020:
2017:
2016:
1980:
1945:
1893:
1844:
1815:(4): 394–398.
1795:
1763:
1731:
1680:
1659:(1): 145–150.
1636:
1587:
1546:
1511:
1482:(4): 258–260.
1459:
1440:(8): 739–748.
1421:
1400:(5): 341–346.
1377:
1336:
1307:(6): 452–456.
1278:
1259:(5): 318–337.
1243:
1224:(3): 449–454.
1208:
1172:
1153:(4): 251–257.
1137:
1106:(2): 168–172.
1081:
1074:
1043:
981:
923:
904:(3): 109–123.
885:
850:
831:(2): 202–215.
812:
765:
738:(1): 105–116.
732:Human Genetics
719:
668:
639:
596:
567:
527:
469:
422:
421:
419:
416:
415:
414:
409:
404:
399:
394:
388:
381:
378:
369:
366:
357:
354:
324:inguinal canal
307:
304:
267:
264:
237:
234:
213:
210:
202:X inactivation
194:
191:
180:cryptorchidism
166:
163:
82:
81:
68:
62:
61:
57:
56:
48:
47:
44:
40:
39:
31:
26:
9:
6:
4:
3:
2:
3016:
3005:
3002:
3000:
2997:
2995:
2992:
2990:
2987:
2985:
2982:
2981:
2979:
2962:
2958:
2954:
2950:
2946:
2942:
2938:
2934:
2931:
2930:
2929:
2926:
2924:
2921:
2919:
2915:
2912:
2910:
2907:
2905:
2902:
2901:
2899:
2895:
2884:
2880:
2876:
2872:
2868:
2865:
2862:
2858:
2854:
2851:
2848:
2844:
2840:
2837:
2834:
2830:
2826:
2823:
2820:
2816:
2812:
2809:
2806:
2802:
2798:
2797:Ewing sarcoma
2795:
2794:
2792:
2788:
2777:
2773:
2769:
2766:
2763:
2759:
2755:
2752:
2749:
2745:
2741:
2738:
2735:
2731:
2727:
2724:
2723:
2721:
2717:
2711:
2708:
2705:
2701:
2697:
2694:
2692:
2689:
2685:
2682:
2679:
2675:
2671:
2668:
2665:
2661:
2657:
2654:
2653:
2651:
2647:
2644:
2642:
2638:
2634:
2631:
2629:
2625:
2615:
2612:
2610:
2607:
2606:
2603:
2600:
2598:
2595:
2593:
2590:
2589:
2586:
2583:
2581:
2578:
2576:
2573:
2572:
2569:
2566:
2564:
2561:
2559:
2556:
2554:
2551:
2549:
2546:
2545:
2543:
2541:
2537:
2532:
2528:
2524:
2518:
2515:
2514:
2512:
2510:
2506:
2503:
2500:
2496:
2492:
2482:
2481:Proximal 18q-
2478:
2475:
2474:
2468:
2464:
2460:
2457:
2456:
2455:
2454:
2450:
2449:
2444:
2441:
2440:
2439:
2436:
2432:
2429:
2428:
2427:
2424:
2420:
2417:
2416:
2415:
2412:
2408:
2405:
2404:
2403:
2399:
2395:
2392:
2388:
2385:
2384:
2383:
2380:
2376:
2373:
2372:
2371:
2368:
2364:
2361:
2360:
2359:
2355:
2352:
2348:
2345:
2344:
2343:
2340:
2336:
2333:
2332:
2330:
2326:
2322:
2318:
2314:
2310:
2309:
2307:
2305:
2301:
2293:
2290:
2289:
2288:
2285:
2283:
2280:
2278:
2275:
2271:
2268:
2267:
2266:
2265:Down syndrome
2263:
2261:
2258:
2256:
2253:
2251:
2248:
2244:
2241:
2240:
2239:
2236:
2234:
2231:
2229:
2226:
2224:
2221:
2219:
2216:
2214:
2211:
2209:
2206:
2205:
2203:
2201:
2196:Duplications,
2194:
2191:
2189:
2185:
2181:
2174:
2169:
2167:
2162:
2160:
2155:
2154:
2151:
2138:
2134:
2133:
2129:
2128:
2125:
2121:
2114:
2110:
2109:
2105:
2103:
2099:
2098:
2094:
2092:
2088:
2087:
2083:
2079:
2078:
2075:
2070:
2066:
2060:
2057:
2055:
2052:
2051:
2034:
2030:
2026:
2025:
2012:
2008:
2004:
2000:
1996:
1992:
1984:
1976:
1972:
1968:
1964:
1960:
1956:
1949:
1934:
1930:
1926:
1921:
1916:
1912:
1908:
1904:
1897:
1889:
1885:
1880:
1875:
1871:
1867:
1863:
1859:
1855:
1848:
1840:
1836:
1831:
1826:
1822:
1818:
1814:
1810:
1806:
1799:
1784:
1780:
1776:
1770:
1768:
1754:
1750:
1746:
1742:
1735:
1727:
1723:
1719:
1715:
1711:
1710:10.1038/35799
1707:
1703:
1699:
1695:
1691:
1684:
1676:
1672:
1667:
1662:
1658:
1654:
1650:
1643:
1641:
1632:
1628:
1623:
1618:
1614:
1610:
1606:
1602:
1598:
1591:
1583:
1579:
1574:
1569:
1565:
1561:
1557:
1550:
1542:
1538:
1534:
1530:
1526:
1522:
1515:
1507:
1503:
1498:
1493:
1489:
1485:
1481:
1477:
1473:
1466:
1464:
1455:
1451:
1447:
1443:
1439:
1435:
1428:
1426:
1417:
1413:
1408:
1403:
1399:
1395:
1391:
1384:
1382:
1373:
1369:
1365:
1361:
1357:
1353:
1345:
1343:
1341:
1332:
1328:
1323:
1318:
1314:
1310:
1306:
1302:
1298:
1291:
1289:
1287:
1285:
1283:
1274:
1270:
1266:
1262:
1258:
1254:
1247:
1239:
1235:
1231:
1227:
1223:
1219:
1212:
1204:
1200:
1196:
1192:
1188:
1184:
1176:
1168:
1164:
1160:
1156:
1152:
1148:
1141:
1133:
1129:
1124:
1119:
1114:
1109:
1105:
1101:
1097:
1090:
1088:
1086:
1077:
1071:
1067:
1063:
1059:
1052:
1050:
1048:
1039:
1035:
1030:
1025:
1020:
1015:
1011:
1007:
1003:
999:
995:
988:
986:
977:
973:
968:
963:
958:
953:
949:
945:
941:
934:
932:
930:
928:
919:
915:
911:
907:
903:
899:
892:
890:
881:
877:
873:
869:
865:
861:
854:
846:
842:
838:
834:
830:
826:
819:
817:
808:
804:
800:
796:
792:
788:
780:
778:
776:
774:
772:
770:
761:
757:
753:
749:
745:
741:
737:
733:
726:
724:
715:
711:
707:
703:
699:
695:
691:
687:
683:
679:
672:
657:
653:
649:
643:
626:
622:
618:
614:
610:
603:
601:
585:
581:
580:www.orpha.net
577:
571:
564:
563:public domain
546:
542:
536:
534:
532:
523:
519:
514:
509:
505:
501:
497:
490:
488:
486:
484:
482:
480:
478:
476:
474:
465:
461:
456:
451:
448:(1): 71–105.
447:
443:
439:
432:
430:
428:
423:
413:
410:
408:
405:
403:
400:
398:
395:
392:
389:
387:
384:
383:
377:
375:
365:
362:
353:
351:
347:
342:
340:
336:
331:
329:
325:
321:
316:
312:
303:
301:
297:
293:
289:
285:
281:
275:
273:
263:
262:development.
260:
259:translocation
256:
255:recombination
250:
242:
233:
231:
227:
218:
209:
206:
203:
198:
190:
187:
183:
181:
177:
173:
162:
160:
156:
151:
149:
145:
141:
140:fertilization
137:
133:
129:
125:
124:crossing over
121:
120:
115:
110:
108:
104:
100:
96:
92:
88:
78:
72:
69:
67:
63:
58:
54:
49:
45:
41:
36:
30:
19:
2917:
2913:
2451:
2325:TAR syndrome
2228:Tetrasomy 9p
2130:
2106:
2095:
2080:
2036:. Retrieved
2032:
1994:
1990:
1983:
1958:
1954:
1948:
1937:. Retrieved
1910:
1906:
1896:
1861:
1857:
1847:
1812:
1808:
1798:
1787:. Retrieved
1778:
1756:, retrieved
1745:GeneReviews®
1744:
1734:
1693:
1689:
1683:
1656:
1652:
1604:
1600:
1590:
1566:(1): 59–62.
1563:
1559:
1549:
1527:(1): 25–28.
1524:
1520:
1514:
1479:
1475:
1437:
1433:
1397:
1393:
1358:(1): 11–18.
1355:
1351:
1304:
1300:
1256:
1253:Cytogenetics
1252:
1246:
1221:
1217:
1211:
1186:
1182:
1175:
1150:
1146:
1140:
1103:
1099:
1057:
1001:
997:
947:
943:
901:
897:
863:
859:
853:
828:
824:
790:
786:
735:
731:
681:
677:
671:
660:. Retrieved
651:
642:
637:updated 2015
629:. Retrieved
612:
588:. Retrieved
579:
570:
549:. Retrieved
503:
499:
445:
441:
391:X chromosome
371:
368:Epidemiology
363:
359:
345:
343:
332:
317:
313:
309:
276:
269:
266:SRY-negative
251:
247:
236:SRY-positive
223:
207:
199:
196:
188:
184:
168:
152:
143:
135:
117:
114:Y chromosome
111:
106:
93:, is a rare
90:
86:
85:
29:
2614:46,XX/46,XY
2531:tetrasomies
2477:Distal 18q-
1218:Development
613:GeneReviews
333:A standard
320:hypospadias
220:SRY Protein
172:hypospadias
43:Other names
2978:Categories
2609:45,X/46,XY
2509:Monosomies
2282:Trisomy 22
2260:Trisomy 18
2250:Trisomy 16
2198:including
2038:12 January
1939:2017-11-29
1789:2017-11-07
1781:. 400045.
1758:2024-06-27
1560:Andrologia
950:(7): 371.
662:2020-09-06
631:12 January
590:2017-01-12
551:2017-01-08
418:References
176:micropenis
2984:Syndromes
2527:Trisomies
2304:Deletions
2223:Trisomy 9
2218:Trisomy 8
2200:trisomies
2188:Autosomal
407:Karyotype
356:Treatment
335:karyotype
306:Diagnosis
148:autosomal
103:phenotype
99:karyotype
66:Specialty
2649:Lymphoid
2641:lymphoma
2637:Leukemia
2132:Orphanet
2011:23290744
1975:16651931
1933:Archived
1929:20451191
1888:22814614
1783:Archived
1753:20301589
1675:14689056
1631:21653197
1582:19143733
1541:10602113
1506:24379036
1454:16200839
1416:16556678
1372:12818524
1331:10874632
1238:17185318
1167:12137585
1132:27297128
976:31336995
944:Medicina
918:21540567
880:14154995
845:32506765
807:28854582
760:26425178
714:32456133
656:Archived
625:Archived
621:20301589
584:Archived
545:Archived
522:17579198
380:See also
272:SRY gene
230:SRY gene
212:Genetics
95:intersex
2877:) t (1
2744:RUNX1T1
2719:Myeloid
2540:mosaics
2113:D058531
2033:Patient
1879:4542431
1839:5501706
1830:1468937
1726:4416667
1718:9486644
1698:Bibcode
1622:3178810
1497:3890225
1322:1734388
1273:5156366
1203:8339747
1123:5312213
1038:8475082
1006:Bibcode
967:6681203
752:6945286
706:3738510
686:Bibcode
678:Science
464:4622299
455:1762158
346:in situ
226:diploid
132:meiosis
2829:COL1A1
2501:linked
2009:
1973:
1927:
1886:
1876:
1837:
1827:
1751:
1724:
1716:
1690:Nature
1673:
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1494:
1452:
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1329:
1319:
1271:
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1201:
1165:
1130:
1120:
1072:
1036:
1026:
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964:
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843:
805:
758:
750:
712:
704:
619:
520:
462:
452:
178:, and
73:
2897:Other
2883:FOXO1
2881:; 13
2875:FOXO1
2873:; 13
2859:; 22
2855:t(11
2845:; 16
2843:DDIT3
2841:t(12
2833:PDGFB
2827:t(17
2803:; 22
2799:t(11
2790:Other
2772:RBM15
2756:t(15
2748:RUNX1
2732:; 22
2672:t(14
2091:Q98.3
1722:S2CID
1029:46301
756:S2CID
710:S2CID
2879:PAX7
2871:PAX3
2869:t(2
2831:;22
2817:;18
2813:t(x
2801:FLI1
2776:MKL1
2774:;22
2770:t(1
2762:RARA
2760:,17
2746:;21
2742:t(8
2728:t(9
2704:NPM1
2698:t(2
2678:BCL2
2676:;18
2662:;14
2658:t(8
2108:MeSH
2097:OMIM
2040:2017
2007:PMID
1971:PMID
1925:PMID
1884:PMID
1862:2012
1835:PMID
1749:PMID
1714:PMID
1671:PMID
1627:PMID
1578:PMID
1537:PMID
1502:PMID
1450:PMID
1412:PMID
1368:PMID
1327:PMID
1269:PMID
1234:PMID
1199:PMID
1163:PMID
1128:PMID
1070:ISBN
1034:PMID
972:PMID
914:PMID
876:PMID
841:PMID
803:PMID
748:PMID
702:PMID
633:2017
617:PMID
518:PMID
460:PMID
350:FISH
296:WNT4
294:and
284:DAX1
280:SOX9
257:, a
2861:EWS
2857:WT1
2847:FUS
2819:SSX
2815:SYT
2805:EWS
2758:PML
2734:BCR
2730:ABL
2702:;5
2700:ALK
2674:IGH
2664:IGH
2660:MYC
2137:393
2082:ICD
1999:doi
1963:doi
1959:117
1915:doi
1874:PMC
1866:doi
1825:PMC
1817:doi
1706:doi
1694:391
1661:doi
1617:PMC
1609:doi
1568:doi
1529:doi
1492:PMC
1484:doi
1442:doi
1402:doi
1360:doi
1317:PMC
1309:doi
1261:doi
1226:doi
1222:134
1191:doi
1187:152
1155:doi
1118:PMC
1108:doi
1062:doi
1024:PMC
1014:doi
962:PMC
952:doi
906:doi
868:doi
864:175
833:doi
829:184
795:doi
740:doi
694:doi
682:233
508:doi
450:PMC
352:).
292:SF1
144:SRY
136:SRY
119:SRY
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