44:
345:. The term "pure gonadal dysgenesis" (PGD) has been used to describe conditions with normal sets of sex chromosomes (e.g., 46,XX or 46,XY), as opposed to those whose gonadal dysgenesis results from missing all or part of the second sex chromosome. The latter group includes those with
484:
and imaging of the pelvis. The karyotype reveals XY chromosomes and the imaging demonstrates the presence of a uterus but no ovaries (the streak gonads are not usually seen by most imaging). Although an XY karyotype can also indicate a person with complete
551:
A 2017 study estimated that the incidence of Swyer syndrome is approximately 1 in 100,000 females. Fewer than 100 cases have been reported as of 2018. There are extremely rare instances of familial Swyer syndrome.
1737:
1722:
2419:
489:, the absence of breasts, and the presence of a uterus and pubic hair exclude the possibility. At this point it is usually possible for a physician to make a diagnosis of Swyer syndrome.
922:[A familial XY gonadal dysgenesis causing high incidence of embryonic gonadal tumors- a report of the fourth dysgerminoma in sibling suffering from 46, XY gonadal dysgenesis].
1813:
2412:
2405:
480:, indicating that the pituitary is providing the signal for puberty but the gonads are failing to respond. The next steps of the evaluation usually include checking a
508:
Swyer syndrome is an example of a condition in which an externally unambiguous female body carries dysgenetic, atypical, or abnormal gonads. Other examples include
3332:
2191:
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950:
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can make limited amounts of androgens and are not affected by this syndrome, most of these persons will develop pubic hair, though it often remains sparse.
1806:
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1799:
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2184:
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typical of females and nonfunctional gonads. Individuals are most commonly diagnosed during adolescence after puberty fails to occur.
2397:
1201:
1791:
2828:
2658:
2587:
2529:
837:
Massanyi EZ, Dicarlo HN, Migeon CJ, Gearhart JP (29 December 2012). "Review and management of 46,XY disorders of sex development".
509:
3019:
2519:
2295:
2177:
2048:
723:"Two successful pregnancies after in vitro fertilisation with oocyte donation in a patient with Swyer syndrome â a case report"
461:
do not develop. This is especially true of estrogenic changes such as breast development, widening of the pelvis and hips, and
2551:
1464:
Gottlieb, Bruce; Trifiro, Mark A. (1993), Adam, Margaret P.; Everman, David B.; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.),
517:
2064:
623:
390:
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2991:
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2603:
2524:
2977:
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890:
Eh, Zheng; Liu, Weili (June 1994). "A familial 46 XY gonadal dysgenesis and high incidence of embryonic gonadal tumors".
2536:
1284:"Evaluation of delayed puberty: what diagnostic tests should be performed in the seemingly otherwise well adolescent?"
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2627:
111:
3431:
2546:
2514:
986:
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do not have two X chromosomes, so the breasts will not develop and the uterus will not grow and menstruate until
360:
as PGD, 46,XX. People with PGD have a normal karyotype but may have defects of a specific gene on a chromosome.
193:. Streak gonads are usually removed within a year or so of diagnosis, since the cancer can begin during infancy.
3136:
2561:
2223:
2144:
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608:
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3005:
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3105:
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2786:
2459:
1834:
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458:
376:. The early stages of testicular formation in the second month of gestation requires the action of several
333:
Seven other genes have been identified with probable associations that are as yet less clearly understood.
618:
2686:
2607:
2241:
1995:
501:
result of a failure of the gonads to develop properly, and hence is part of a class of conditions termed
1557:
Banoth M, Naru RR, Inamdar MB, Chowhan AK (May 2018). "Familial Swyer syndrome: a rare genetic entity".
3162:
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1972:
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fail to develop, so no internal male organs are formed. Also, the lack of testosterone means that no
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1826:
1763:
588:
350:
17:
721:
Urban, Aleksandra; Knap-Wielgus, Weronika; Grymowicz, Monika; Smolarczyk, Roman (September 2021).
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2016:
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with Y chromosome-containing cells have a high likelihood of developing cancer, especially
8:
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1600:
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872:
406:
208:
780:"A Rare Case of Swyer Syndrome in Two Sisters with Successful Pregnancy Outcome in Both"
3426:
2914:
2711:
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1910:
1867:
1626:"Mami Y Yo y Mi Gallito, by Director Arisleyda Dilone â Intersex Campaign for Equality"
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Swyer syndrome was first described by G. I. M. Swyer in 1955 in a report of two cases.
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therapy is typically commenced, promoting the development of female characteristics.
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2011:
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and a mixture of cell lines, some containing a Y chromosome (e.g., 46,XY/45,X).
2725:
2475:
2344:
1957:
1905:
1887:
1882:
1779:
1417:
Zieliñska, Dorota; Zajaczek, Stanislaw; Rzepka-Górska, Izabella (29 May 2007).
1169:
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46,XY gonadal dysgenesis, complete or partial, with or without adrenal failure
262:
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Hormone replacement therapy can also reduce the likelihood of osteoporosis.
2040:
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1578:
1540:
1477:
1450:
1395:
1315:
1260:
1181:
1114:"SRY sex determining region Y [Homo sapiens (human)] - Gene - NCBI"
1074:
1043:
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858:
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764:
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477:
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130:. The syndrome was named after Gerald Swyer, an endocrinologist based in
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2098:
1967:
903:
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1714:
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fail to differentiate into testes in an XY fetus. Without testes, no
173:
143:
115:
83:
1282:
Abitbol, Leah; Zborovski, Stephen; Palmert, Mark R. (19 July 2016).
720:
313:
46,XY gonadal dysgenesis, complete or partial, with 9p24.3 deletion
2210:
2113:
1949:
1830:
1503:
Best
Practice & Research. Clinical Obstetrics & Gynaecology
603:
454:
450:
158:
103:
2103:
1010:"Recent findings on the genetics of disorders of sex development"
664:
Taneja, Jyoti; Ogutu, David; Ah-Moye, Michael (18 October 2016).
95:
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1940:
1897:
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131:
90:, the person has underdeveloped gonads, fibrous tissue termed "
1677:"Complete gonadal dysgenesis with XY chromosomal constitution"
1416:
3304:
3213:
3069:
3041:
3027:
3013:
2999:
2985:
2780:
2747:
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1982:
948:
836:
377:
321:
282:
154:
87:
16:"Swyer syndrome" redirects here. For the lung condition, see
955:
949:
Michala, L.; Goswami, D.; Creighton, SM; Conway, GS (2008).
920:"柶ææ§XYćæ§è
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666:"Rare successful pregnancy in a patient with Swyer Syndrome"
3318:
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3094:
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2927:
2908:
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2880:
2866:
2841:
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2733:
2705:
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2314:
253:
46,XY gonadal dysgenesis, complete or partial, DHH-related
220:
180:
382:
242:
110:. Pregnancy is sometimes possible in Swyer syndrome with
1556:
1368:
Current
Opinion in Endocrinology, Diabetes, and Obesity
1281:
778:
Gupta, Anupam; Bajaj, Ritika; Jindal, Umesh N. (2019).
578:, Finnish singer, songwriter, and television presenter
356:
Thus Swyer syndrome is referred to as PGD, 46,XY, and
149:
The consequences of Swyer syndrome without treatment:
1674:
1170:"Embryology, Mullerian Ducts (Paramesonephric Ducts)"
445:
Due to the inability of the streak gonads to produce
380:, one of the earliest and most important of which is
349:(i.e., 45,X) and its variants, as well as those with
172:, so menstrual periods will not be predictable until
1704:
563:
1472:, Seattle (WA): University of Washington, Seattle,
3333:Ectrodactylyâectodermal dysplasiaâcleft syndrome 3
2199:
663:
386:: the sex-determining region of the Y chromosome.
1829:congenital anomalies of the genitalia, including
1675:Stoicanescu D, Belengeanu V, et al. (2006).
1652:"Sara Forsberg kertoo olevansa intersukupuolinen"
417:, resulting in a normal vulva. Without AMH, the
293:46,XY gonadal dysgenesis, complete, CBX2-related
3418:
1007:
777:
233:46,XY gonadal dysgenesis, complete, SRY-related
1605:NORD (National Organization for Rare Disorders)
1552:
1550:
1463:
1419:"Tumors of dysgenetic gonads in Swyer syndrome"
1342:NORD (National Organization for Rare Disorders)
1176:, Treasure Island (FL): StatPearls Publishing,
877:National Organization for Rare Disorders (NORD)
1362:King, Thomas F. J.; Conway, Gerard S. (2014).
1233:Reviews in Endocrine & Metabolic Disorders
505:. There are many forms of gonadal dysgenesis.
94:", and if left untreated, will not experience
3225:Yemenite deaf-blind hypopigmentation syndrome
2413:
2387:intercellular signaling peptides and proteins
2185:
1807:
1167:
1008:Kremen J, Chan YM, Swartz JM (January 2017).
401:(AMH) is produced. Without testosterone, the
1547:
421:develop into normal internal female organs (
86:is 46,XY. Though they typically have normal
1229:"The adrenal and polycystic ovary syndrome"
1226:
951:"Swyer syndrome: Presentation and outcomes"
2420:
2406:
2296:Autoimmune lymphoproliferative syndrome 1B
2192:
2178:
1814:
1800:
1361:
1227:Yildiz, Bulent O.; Azziz, Ricardo (2007).
336:
42:
1530:
1168:Wilson, Danielle; Bordoni, Bruno (2022),
1056:
1033:
918:E, Z; Xu, XL; Li, C; Gao, FZ (May 1981).
813:
795:
754:
727:PrzeglaÌd Menopauzalny = Menopause Review
697:
183:, so conceiving children is not possible.
2829:Posterior polymorphous corneal dystrophy
2659:Autoimmune polyendocrine syndrome type 1
1147:Department of Anatomy & Cell Biology
917:
510:complete androgen insensitivity syndrome
409:is formed and consequently the external
3020:Anterior segment mesenchymal dysgenesis
1649:
1496:
3437:Congenital disorders of genital organs
3419:
2049:Congenital absence of the vas deferens
784:Journal of Human Reproductive Sciences
372:of a male fetus is the development of
2552:X-linked adrenal hypoplasia congenita
2401:
2219:EDA Hypohidrotic ectodermal dysplasia
2173:
1795:
1497:Witchel, Selma Feldman (April 2018).
1137:
1057:Bomalaski, M. David (February 2005).
889:
518:lipoid congenital adrenal hyperplasia
492:
161:is administered. This is often given
137:
2604:Greig cephalopolysyndactyly syndrome
641:
639:
2978:Iridogoniodysgenesis, dominant type
916:Originally published in Chinese as
389:When such a gene is defective, the
176:is administered, usually as a pill.
126:. The typical medical treatment is
13:
3262:
2065:Persistent MĂŒllerian duct syndrome
1668:
1059:"A practical approach to intersex"
892:Chinese Journal of Cancer Research
624:Persistent MĂŒllerian duct syndrome
142:Those with Swyer syndrome develop
14:
3453:
1700:
1650:Kantola, Iida (27 October 2023).
1466:"Androgen Insensitivity Syndrome"
636:
564:People with XY gonadal dysgenesis
2992:Lymphedemaâdistichiasis syndrome
2588:Trichoârhinoâphalangeal syndrome
2562:Familial partial lipodystrophy 3
1300:10.1136/archdischild-2015-310375
1288:Archives of Disease in Childhood
1202:"Gonadal and Placental Hormones"
1089:"SRY gene: MedlinePlus Genetics"
967:10.1111/j.1471-0528.2008.01703.x
112:assisted reproductive technology
3256:(0) Other transcription factors
2547:Estrogen insensitivity syndrome
2515:Androgen insensitivity syndrome
1643:
1618:
1593:
1490:
1457:
1410:
1355:
1330:
1275:
1220:
1194:
1161:
1131:
1106:
1081:
1050:
572:, American director and actress
546:
487:androgen insensitivity syndrome
363:
3137:Hyperimmunoglobulin E syndrome
2542:PHA1AD pseudohypoaldosteronism
2145:Progestin-induced virilization
1499:"Disorders of Sex Development"
1435:10.1016/j.jpedsurg.2007.05.029
1212:(1). 6 March 2013 – via
1001:
942:
883:
865:
830:
771:
714:
670:Case Reports in Women's Health
657:
609:Congenital adrenal hyperplasia
497:Swyer syndrome represents one
72:XY complete gonadal dysgenesis
1:
3399:Atrichia with papular lesions
1571:10.1080/09513590.2017.1393662
1515:10.1016/j.bpobgyn.2017.11.005
629:
476:usually reveals elevation of
459:secondary sex characteristics
3106:Popliteal pterygium syndrome
3048:Enlarged vestibular aqueduct
2887:Waardenburg syndrome 1&3
2672:(3) Helix-turn-helix domains
2431:relating to deficiencies of
1423:Journal of Pediatric Surgery
1380:10.1097/MED.0000000000000113
1026:10.1097/MOU.0000000000000353
851:10.1016/j.jpurol.2012.12.002
599:Disorders of sex development
527:
440:
179:Their gonads cannot produce
7:
3206:Premature ovarian failure 7
3062:Premature ovarian failure 3
2934:Congenital hypothyroidism 2
2374:Congenital hypothyroidism 4
2362:Premature ovarian failure 4
2242:Craniofrontonasal dysplasia
1996:Unilateral ovarian agenesis
582:
341:There are several forms of
211:of Swyer syndrome include:
203:
128:hormone replacement therapy
10:
3458:
3353:Transcription coregulators
3123:with minor groove contacts
2510:Thyroid hormone resistance
2224:CamuratiâEngelmann disease
1973:Sertoli cell-only syndrome
682:10.1016/j.crwh.2016.10.001
555:
15:
3385:
3375:RubinsteinâTaybi syndrome
3360:
3351:
3282:
3255:
3235:
3201:SRY XY gonadal dysgenesis
3171:
3145:
3129:
3120:
3086:
3006:BamforthâLazarus syndrome
2958:
2858:
2678:
2671:
2651:
2618:Duane-radial ray syndrome
2596:
2575:
2567:SF1 XY gonadal dysgenesis
2497:
2488:
2468:
2447:
2440:
2350:DHH XY gonadal dysgenesis
2336:
2304:
2286:
2268:
2250:
2232:
2209:
2132:
2124:Penoscrotal transposition
2084:
2077:
2057:
2039:
2004:
1981:
1948:
1939:
1896:
1848:
1841:
1708:
1245:10.1007/s11154-007-9054-0
924:Zhonghua Zhong Liu Za Zhi
619:5α-Reductase 2 deficiency
168:Their gonads cannot make
122:(45,X0) due to a lack of
106:which is responsible for
98:. The cause is a lack or
57:
50:
41:
33:
28:
3243:Cleidocranial dysostosis
2460:SaethreâChotzen syndrome
2326:Hirschsprung's disease 4
2321:Waardenburg syndrome IVb
2022:Mixed gonadal dysgenesis
1630:www.intersexequality.com
1069:(1): 11â8, 23, quiz 24.
589:Sex chromosome anomalies
368:The first known step of
351:mixed gonadal dysgenesis
3220:Waardenburg syndrome 4c
2920:Coloboma of optic nerve
2768:Tooth and nail syndrome
2608:PallisterâHall syndrome
1138:Silverman, Ann-Judith.
797:10.4103/jhrs.JHRS_14_19
337:Pure gonadal dysgenesis
3432:Gynaecologic disorders
3163:Ulnarâmammary syndrome
3121:(4) ÎČ-Scaffold factors
3101:Van der Woude syndrome
2633:TownesâBrocks syndrome
2506:Intracellular receptor
2017:Ovotesticular syndrome
739:10.5114/pm.2021.109361
399:anti-MĂŒllerian hormone
370:sexual differentiation
118:is usually similar to
108:sexual differentiation
78:, is a type of defect
3337:Limbâmammary syndrome
3325:RappâHodgkin syndrome
3297:PittâHopkins syndrome
2873:Papillorenal syndrome
2848:MowatâWilson syndrome
2754:Nailâpatella syndrome
2638:Acrocallosal syndrome
2260:Tetra-amelia syndrome
2150:Pseudohermaphroditism
2027:XY gonadal dysgenesis
1991:XX gonadal dysgenesis
1140:"Gonadal Development"
358:XX gonadal dysgenesis
29:XY gonadal dysgenesis
3179:Campomelic dysplasia
3158:LiâFraumeni syndrome
2643:Myotonic dystrophy 2
2613:DenysâDrash syndrome
2433:transcription factor
2155:True hermaphroditism
1850:Uterine malformation
1693:10.4183/aeb.2006.465
1681:Acta Endocrinologica
1214:University of Hawaii
1206:The Endocrine System
1118:www.ncbi.nlm.nih.gov
651:MedlinePlus Genetics
209:Genetic associations
18:SwyerâJames syndrome
3442:Intersex variations
2973:Axenfeld syndrome 3
2787:Axenfeld syndrome 1
2726:SPD1 synpolydactyly
2491:DNA-binding domains
1559:Gynecol. Endocrinol
1155:Columbia University
407:dihydrotestosterone
3329:HayâWells syndrome
3153:HoltâOram syndrome
2915:Gillespie syndrome
2834:Fuchs' dystrophy 3
2712:Currarino syndrome
1911:Vaginal hypoplasia
1868:Unicornuate uterus
1858:MĂŒllerian agenesis
904:10.1007/BF02997250
503:gonadal dysgenesis
493:Related conditions
391:indifferent gonads
343:gonadal dysgenesis
138:Signs and symptoms
82:in a person whose
3412:
3411:
3408:
3407:
3278:
3277:
3251:
3250:
3116:
3115:
2693:Ohtahara syndrome
2667:
2666:
2537:Kennedy's disease
2484:
2483:
2455:Feingold syndrome
2441:(1) Basic domains
2429:Genetic disorders
2395:
2394:
2167:
2166:
2163:
2162:
2073:
2072:
2035:
2034:
1926:Cloacal exstrophy
1916:Imperforate hymen
1878:Bicornuate uterus
1863:Cervical agenesis
1789:
1788:
1429:(10): 1721â1724.
463:menstrual periods
331:
330:
199:is often present.
153:The individual's
69:
68:
23:Medical condition
3449:
3358:
3357:
3260:
3259:
3127:
3126:
2698:Lissencephaly X2
2676:
2675:
2583:Barakat syndrome
2495:
2494:
2445:
2444:
2422:
2415:
2408:
2399:
2398:
2194:
2187:
2180:
2171:
2170:
2082:
2081:
2012:Gonadal agenesis
1946:
1945:
1921:Vaginal adenosis
1873:Uterus didelphys
1846:
1845:
1816:
1809:
1802:
1793:
1792:
1706:
1705:
1696:
1662:
1661:
1647:
1641:
1640:
1638:
1636:
1622:
1616:
1615:
1613:
1611:
1601:"Swyer syndrome"
1597:
1591:
1590:
1554:
1545:
1544:
1534:
1494:
1488:
1487:
1486:
1484:
1461:
1455:
1454:
1414:
1408:
1407:
1364:"Swyer syndrome"
1359:
1353:
1352:
1350:
1348:
1338:"Swyer syndrome"
1334:
1328:
1327:
1279:
1273:
1272:
1224:
1218:
1217:
1198:
1192:
1191:
1190:
1188:
1165:
1159:
1158:
1153:(1) – via
1144:
1135:
1129:
1128:
1126:
1124:
1110:
1104:
1103:
1101:
1099:
1085:
1079:
1078:
1063:Urologic Nursing
1054:
1048:
1047:
1037:
1005:
999:
998:
996:
994:
989:on 20 April 2021
985:. Archived from
946:
940:
939:
915:
887:
881:
880:
873:"Swyer syndrome"
869:
863:
862:
834:
828:
827:
817:
799:
775:
769:
768:
758:
718:
712:
711:
701:
661:
655:
654:
647:"Swyer Syndrome"
643:
594:XX male syndrome
570:Arisleyda Dilone
532:Upon diagnosis,
214:
213:
74:, also known as
64:Medical genetics
46:
26:
25:
3457:
3456:
3452:
3451:
3450:
3448:
3447:
3446:
3417:
3416:
3413:
3404:
3381:
3347:
3274:
3270:Kabuki syndrome
3247:
3231:
3167:
3141:
3122:
3112:
3082:
2954:
2854:
2663:
2647:
2592:
2571:
2490:
2489:(2) Zinc finger
2480:
2464:
2436:
2435:or coregulators
2426:
2396:
2391:
2332:
2300:
2282:
2264:
2246:
2228:
2205:
2198:
2168:
2159:
2128:
2069:
2053:
2031:
2000:
1977:
1935:
1931:Vaginal atresia
1892:
1837:
1820:
1790:
1785:
1784:
1717:
1703:
1671:
1669:Further reading
1666:
1665:
1648:
1644:
1634:
1632:
1624:
1623:
1619:
1609:
1607:
1599:
1598:
1594:
1555:
1548:
1495:
1491:
1482:
1480:
1462:
1458:
1415:
1411:
1360:
1356:
1346:
1344:
1336:
1335:
1331:
1280:
1276:
1225:
1221:
1200:
1199:
1195:
1186:
1184:
1166:
1162:
1142:
1136:
1132:
1122:
1120:
1112:
1111:
1107:
1097:
1095:
1093:medlineplus.gov
1087:
1086:
1082:
1055:
1051:
1006:
1002:
992:
990:
947:
943:
888:
884:
871:
870:
866:
835:
831:
776:
772:
719:
715:
662:
658:
645:
644:
637:
632:
614:Fraser syndrome
585:
566:
558:
549:
530:
522:Turner syndrome
495:
474:delayed puberty
457:), most of the
443:
427:fallopian tubes
419:MĂŒllerian ducts
366:
347:Turner syndrome
339:
206:
140:
120:Turner syndrome
24:
21:
12:
11:
5:
3455:
3445:
3444:
3439:
3434:
3429:
3410:
3409:
3406:
3405:
3403:
3402:
3389:
3387:
3383:
3382:
3380:
3379:
3378:
3377:
3364:
3362:
3355:
3349:
3348:
3346:
3345:
3344:
3343:
3315:
3314:
3313:
3301:
3300:
3299:
3286:
3284:
3280:
3279:
3276:
3275:
3273:
3272:
3266:
3264:
3257:
3253:
3252:
3249:
3248:
3246:
3245:
3239:
3237:
3233:
3232:
3230:
3229:
3228:
3227:
3222:
3210:
3209:
3208:
3203:
3191:
3186:
3181:
3175:
3173:
3169:
3168:
3166:
3165:
3160:
3155:
3149:
3147:
3143:
3142:
3140:
3139:
3133:
3131:
3124:
3118:
3117:
3114:
3113:
3111:
3110:
3109:
3108:
3103:
3090:
3088:
3084:
3083:
3081:
3080:
3079:
3078:
3066:
3065:
3064:
3052:
3051:
3050:
3038:
3037:
3036:
3024:
3023:
3022:
3010:
3009:
3008:
2996:
2995:
2994:
2982:
2981:
2980:
2975:
2962:
2960:
2956:
2955:
2953:
2952:
2951:
2950:
2938:
2937:
2936:
2924:
2923:
2922:
2917:
2905:
2904:
2903:
2891:
2890:
2889:
2877:
2876:
2875:
2862:
2860:
2856:
2855:
2853:
2852:
2851:
2850:
2838:
2837:
2836:
2831:
2819:
2818:
2817:
2805:
2804:
2803:
2791:
2790:
2789:
2777:
2776:
2775:
2770:
2758:
2757:
2756:
2744:
2743:
2742:
2730:
2729:
2728:
2716:
2715:
2714:
2702:
2701:
2700:
2695:
2682:
2680:
2673:
2669:
2668:
2665:
2664:
2662:
2661:
2655:
2653:
2649:
2648:
2646:
2645:
2640:
2635:
2630:
2625:
2620:
2615:
2610:
2600:
2598:
2594:
2593:
2591:
2590:
2585:
2579:
2577:
2573:
2572:
2570:
2569:
2564:
2559:
2554:
2549:
2544:
2539:
2534:
2533:
2532:
2527:
2522:
2512:
2501:
2499:
2492:
2486:
2485:
2482:
2481:
2479:
2478:
2476:Tietz syndrome
2472:
2470:
2466:
2465:
2463:
2462:
2457:
2451:
2449:
2442:
2438:
2437:
2425:
2424:
2417:
2410:
2402:
2393:
2392:
2390:
2389:
2384:
2382:
2378:
2377:
2365:
2353:
2340:
2338:
2334:
2333:
2331:
2330:
2329:
2328:
2323:
2310:
2308:
2302:
2301:
2299:
2298:
2292:
2290:
2284:
2283:
2281:
2280:
2274:
2272:
2266:
2265:
2263:
2262:
2256:
2254:
2248:
2247:
2245:
2244:
2238:
2236:
2230:
2229:
2227:
2226:
2221:
2215:
2213:
2207:
2206:
2200:Extracellular
2197:
2196:
2189:
2182:
2174:
2165:
2164:
2161:
2160:
2158:
2157:
2152:
2147:
2142:
2136:
2134:
2130:
2129:
2127:
2126:
2121:
2116:
2111:
2106:
2101:
2096:
2090:
2088:
2079:
2075:
2074:
2071:
2070:
2068:
2067:
2061:
2059:
2055:
2054:
2052:
2051:
2045:
2043:
2037:
2036:
2033:
2032:
2030:
2029:
2024:
2019:
2014:
2008:
2006:
2002:
2001:
1999:
1998:
1993:
1987:
1985:
1979:
1978:
1976:
1975:
1970:
1965:
1960:
1958:Cryptorchidism
1954:
1952:
1943:
1937:
1936:
1934:
1933:
1928:
1923:
1918:
1913:
1908:
1906:Vaginal septum
1902:
1900:
1894:
1893:
1891:
1890:
1888:Arcuate uterus
1885:
1883:Uterine septum
1880:
1875:
1870:
1865:
1860:
1854:
1852:
1843:
1839:
1838:
1819:
1818:
1811:
1804:
1796:
1787:
1786:
1783:
1782:
1771:
1760:
1749:
1734:
1718:
1713:
1712:
1710:
1709:Classification
1702:
1701:External links
1699:
1698:
1697:
1670:
1667:
1664:
1663:
1642:
1617:
1592:
1565:(5): 389â393.
1546:
1489:
1456:
1409:
1374:(6): 504â510.
1354:
1329:
1294:(8): 767â771.
1274:
1239:(4): 331â342.
1219:
1193:
1160:
1130:
1105:
1080:
1049:
1014:Curr Opin Urol
1000:
961:(6): 737â741.
941:
926:(in Chinese).
898:(2): 144â148.
882:
864:
845:(3): 368â379.
839:J Pediatr Urol
829:
790:(3): 267â269.
770:
733:(3): 158â161.
713:
656:
634:
633:
631:
628:
627:
626:
621:
616:
611:
606:
601:
596:
591:
584:
581:
580:
579:
573:
565:
562:
557:
554:
548:
545:
529:
526:
494:
491:
472:Evaluation of
467:adrenal glands
442:
439:
403:Wolffian ducts
365:
362:
338:
335:
329:
328:
325:
319:
314:
310:
309:
306:
299:
294:
290:
289:
286:
279:
274:
270:
269:
266:
259:
254:
250:
249:
246:
239:
234:
230:
229:
226:
223:
218:
205:
202:
201:
200:
194:
191:gonadoblastoma
184:
177:
166:
139:
136:
124:X inactivation
76:Swyer syndrome
67:
66:
61:
55:
54:
48:
47:
39:
38:
37:Swyer syndrome
35:
31:
30:
22:
9:
6:
4:
3:
2:
3454:
3443:
3440:
3438:
3435:
3433:
3430:
3428:
3425:
3424:
3422:
3415:
3400:
3396:
3395:
3391:
3390:
3388:
3384:
3376:
3373:
3372:
3371:
3370:
3366:
3365:
3363:
3359:
3356:
3354:
3350:
3342:
3338:
3334:
3330:
3326:
3323:
3322:
3321:
3320:
3316:
3312:
3309:
3308:
3307:
3306:
3302:
3298:
3295:
3294:
3293:
3292:
3288:
3287:
3285:
3281:
3271:
3268:
3267:
3265:
3261:
3258:
3254:
3244:
3241:
3240:
3238:
3234:
3226:
3223:
3221:
3218:
3217:
3216:
3215:
3211:
3207:
3204:
3202:
3199:
3198:
3197:
3196:
3192:
3190:
3187:
3185:
3182:
3180:
3177:
3176:
3174:
3170:
3164:
3161:
3159:
3156:
3154:
3151:
3150:
3148:
3144:
3138:
3135:
3134:
3132:
3128:
3125:
3119:
3107:
3104:
3102:
3099:
3098:
3097:
3096:
3092:
3091:
3089:
3085:
3077:
3074:
3073:
3072:
3071:
3067:
3063:
3060:
3059:
3058:
3057:
3053:
3049:
3046:
3045:
3044:
3043:
3039:
3035:
3032:
3031:
3030:
3029:
3025:
3021:
3018:
3017:
3016:
3015:
3011:
3007:
3004:
3003:
3002:
3001:
2997:
2993:
2990:
2989:
2988:
2987:
2983:
2979:
2976:
2974:
2971:
2970:
2969:
2968:
2964:
2963:
2961:
2957:
2949:
2946:
2945:
2944:
2943:
2939:
2935:
2932:
2931:
2930:
2929:
2925:
2921:
2918:
2916:
2913:
2912:
2911:
2910:
2906:
2902:
2899:
2898:
2897:
2896:
2892:
2888:
2885:
2884:
2883:
2882:
2878:
2874:
2871:
2870:
2869:
2868:
2864:
2863:
2861:
2857:
2849:
2846:
2845:
2844:
2843:
2839:
2835:
2832:
2830:
2827:
2826:
2825:
2824:
2820:
2816:
2813:
2812:
2811:
2810:
2806:
2802:
2799:
2798:
2797:
2796:
2792:
2788:
2785:
2784:
2783:
2782:
2778:
2774:
2771:
2769:
2766:
2765:
2764:
2763:
2759:
2755:
2752:
2751:
2750:
2749:
2745:
2741:
2738:
2737:
2736:
2735:
2731:
2727:
2724:
2723:
2722:
2721:
2717:
2713:
2710:
2709:
2708:
2707:
2703:
2699:
2696:
2694:
2691:
2690:
2689:
2688:
2684:
2683:
2681:
2677:
2674:
2670:
2660:
2657:
2656:
2654:
2650:
2644:
2641:
2639:
2636:
2634:
2631:
2629:
2626:
2624:
2621:
2619:
2616:
2614:
2611:
2609:
2605:
2602:
2601:
2599:
2595:
2589:
2586:
2584:
2581:
2580:
2578:
2574:
2568:
2565:
2563:
2560:
2558:
2555:
2553:
2550:
2548:
2545:
2543:
2540:
2538:
2535:
2531:
2528:
2526:
2523:
2521:
2518:
2517:
2516:
2513:
2511:
2507:
2503:
2502:
2500:
2496:
2493:
2487:
2477:
2474:
2473:
2471:
2467:
2461:
2458:
2456:
2453:
2452:
2450:
2446:
2443:
2439:
2434:
2430:
2423:
2418:
2416:
2411:
2409:
2404:
2403:
2400:
2388:
2385:
2383:
2380:
2379:
2375:
2371:
2370:
2366:
2363:
2359:
2358:
2354:
2351:
2347:
2346:
2342:
2341:
2339:
2335:
2327:
2324:
2322:
2319:
2318:
2317:
2316:
2312:
2311:
2309:
2307:
2303:
2297:
2294:
2293:
2291:
2289:
2285:
2279:
2276:
2275:
2273:
2271:
2267:
2261:
2258:
2257:
2255:
2253:
2249:
2243:
2240:
2239:
2237:
2235:
2231:
2225:
2222:
2220:
2217:
2216:
2214:
2212:
2208:
2203:
2195:
2190:
2188:
2183:
2181:
2176:
2175:
2172:
2156:
2153:
2151:
2148:
2146:
2143:
2141:
2140:Clitoromegaly
2138:
2137:
2135:
2131:
2125:
2122:
2120:
2117:
2115:
2112:
2110:
2107:
2105:
2102:
2100:
2097:
2095:
2092:
2091:
2089:
2087:
2083:
2080:
2076:
2066:
2063:
2062:
2060:
2056:
2050:
2047:
2046:
2044:
2042:
2038:
2028:
2025:
2023:
2020:
2018:
2015:
2013:
2010:
2009:
2007:
2003:
1997:
1994:
1992:
1989:
1988:
1986:
1984:
1980:
1974:
1971:
1969:
1966:
1964:
1963:Polyorchidism
1961:
1959:
1956:
1955:
1953:
1951:
1947:
1944:
1942:
1938:
1932:
1929:
1927:
1924:
1922:
1919:
1917:
1914:
1912:
1909:
1907:
1904:
1903:
1901:
1899:
1895:
1889:
1886:
1884:
1881:
1879:
1876:
1874:
1871:
1869:
1866:
1864:
1861:
1859:
1856:
1855:
1853:
1851:
1847:
1844:
1840:
1836:
1832:
1828:
1824:
1817:
1812:
1810:
1805:
1803:
1798:
1797:
1794:
1781:
1777:
1776:
1772:
1770:
1766:
1765:
1761:
1759:
1755:
1754:
1750:
1748:
1744:
1743:
1739:
1735:
1733:
1729:
1728:
1724:
1720:
1719:
1716:
1711:
1707:
1694:
1690:
1687:(4): 465â70.
1686:
1682:
1678:
1673:
1672:
1660:(in Finnish).
1659:
1658:
1653:
1646:
1631:
1627:
1621:
1606:
1602:
1596:
1588:
1584:
1580:
1576:
1572:
1568:
1564:
1560:
1553:
1551:
1542:
1538:
1533:
1528:
1524:
1520:
1516:
1512:
1508:
1504:
1500:
1493:
1479:
1475:
1471:
1467:
1460:
1452:
1448:
1444:
1440:
1436:
1432:
1428:
1424:
1420:
1413:
1405:
1401:
1397:
1393:
1389:
1385:
1381:
1377:
1373:
1369:
1365:
1358:
1343:
1339:
1333:
1325:
1321:
1317:
1313:
1309:
1305:
1301:
1297:
1293:
1289:
1285:
1278:
1270:
1266:
1262:
1258:
1254:
1250:
1246:
1242:
1238:
1234:
1230:
1223:
1215:
1211:
1207:
1203:
1197:
1183:
1179:
1175:
1171:
1164:
1156:
1152:
1148:
1141:
1134:
1119:
1115:
1109:
1094:
1090:
1084:
1076:
1072:
1068:
1064:
1060:
1053:
1045:
1041:
1036:
1031:
1027:
1023:
1019:
1015:
1011:
1004:
988:
984:
980:
976:
972:
968:
964:
960:
956:
952:
945:
937:
933:
929:
925:
921:
913:
909:
905:
901:
897:
893:
886:
878:
874:
868:
860:
856:
852:
848:
844:
840:
833:
825:
821:
816:
811:
807:
803:
798:
793:
789:
785:
781:
774:
766:
762:
757:
752:
748:
744:
740:
736:
732:
728:
724:
717:
709:
705:
700:
695:
691:
687:
683:
679:
675:
671:
667:
660:
652:
648:
642:
640:
635:
625:
622:
620:
617:
615:
612:
610:
607:
605:
602:
600:
597:
595:
592:
590:
587:
586:
577:
576:Sara Forsberg
574:
571:
568:
567:
561:
553:
544:
541:
539:
535:
525:
523:
519:
515:
511:
506:
504:
500:
490:
488:
483:
479:
478:gonadotropins
475:
470:
468:
464:
460:
456:
452:
448:
438:
436:
432:
428:
424:
420:
416:
412:
408:
404:
400:
396:
392:
387:
385:
384:
379:
375:
371:
361:
359:
354:
352:
348:
344:
334:
326:
323:
320:
318:
315:
312:
311:
307:
305:
304:
300:
298:
295:
292:
291:
287:
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210:
198:
195:
192:
188:
187:Streak gonads
185:
182:
178:
175:
171:
167:
164:
163:transdermally
160:
156:
152:
151:
150:
147:
145:
135:
133:
129:
125:
121:
117:
113:
109:
105:
101:
97:
93:
92:streak gonads
89:
85:
81:
77:
73:
65:
62:
60:
56:
53:
49:
45:
40:
36:
32:
27:
19:
3414:
3392:
3386:Corepressor:
3367:
3361:Coactivator:
3317:
3303:
3289:
3212:
3200:
3193:
3093:
3068:
3054:
3040:
3026:
3012:
2998:
2984:
2965:
2940:
2926:
2907:
2893:
2879:
2865:
2840:
2821:
2807:
2793:
2779:
2760:
2746:
2732:
2718:
2704:
2685:
2566:
2367:
2355:
2349:
2343:
2313:
2041:Vas deferens
2026:
1773:
1762:
1751:
1736:
1721:
1684:
1680:
1657:Ilta-Sanomat
1655:
1645:
1633:. Retrieved
1629:
1620:
1608:. Retrieved
1604:
1595:
1562:
1558:
1506:
1502:
1492:
1481:, retrieved
1470:GeneReviewsÂź
1469:
1459:
1426:
1422:
1412:
1371:
1367:
1357:
1345:. Retrieved
1341:
1332:
1291:
1287:
1277:
1236:
1232:
1222:
1209:
1205:
1196:
1185:, retrieved
1173:
1163:
1150:
1146:
1133:
1121:. Retrieved
1117:
1108:
1096:. Retrieved
1092:
1083:
1066:
1062:
1052:
1017:
1013:
1003:
991:. Retrieved
987:the original
958:
954:
944:
930:(2): 89â90.
927:
923:
895:
891:
885:
876:
867:
842:
838:
832:
787:
783:
773:
730:
726:
716:
673:
669:
659:
650:
559:
550:
547:Epidemiology
542:
531:
514:X chromosome
507:
496:
471:
447:sex hormones
444:
395:testosterone
388:
381:
367:
364:Pathogenesis
355:
340:
332:
301:
281:
261:
241:
207:
170:progesterone
148:
141:
100:inactivation
80:hypogonadism
75:
71:
70:
2094:Hypospadias
538:progestogen
516:deletions,
52:Protein SRY
34:Other names
3421:Categories
2306:Endothelin
2288:Fas ligand
2109:Micropenis
2099:Epispadias
1968:Monorchism
1775:DiseasesDB
1509:: 90â102.
1483:20 January
1187:20 January
1174:StatPearls
1020:(1): 1â6.
993:11 January
630:References
512:, partial
499:phenotypic
197:Osteopenia
144:phenotypes
3427:Syndromes
3283:Ungrouped
2204:disorders
2119:Diphallia
1523:1521-6934
1443:1531-5037
1388:1752-2978
1308:1468-2044
1253:1389-9155
806:0974-1208
747:1643-8876
690:2214-9112
528:Treatment
482:karyotype
465:. As the
455:androgens
451:estrogens
441:Diagnosis
411:genitalia
174:progestin
116:phenotype
84:karyotype
59:Specialty
2381:See also
2211:Cytokine
2114:Aphallia
2078:External
1950:Testicle
1842:Internal
1831:intersex
1635:27 March
1610:23 March
1579:29069951
1541:29503125
1478:20301602
1451:17923202
1404:20181415
1396:25314337
1347:28 March
1324:25495530
1316:27190100
1269:32857950
1261:17932770
1182:32491659
1123:23 March
1098:23 March
1075:15779688
1044:27798415
983:11953597
975:18410658
912:84107076
859:23276787
824:31576088
765:34703418
708:29629300
604:Intersex
583:See also
534:estrogen
415:virilize
413:fail to
268:12q13.1
204:Genetics
159:estrogen
104:SRY gene
3034:ACD/MPV
2104:Chordee
1769:D006061
1587:4452231
1532:5866176
1035:5877806
936:7307902
815:6764226
756:8525253
699:5885995
676:: 1â2.
556:History
327:9p24.3
248:Yp11.3
96:puberty
3369:CREBBP
3189:MODY 5
3184:MODY 3
2948:STHAG3
2901:MODY 9
2809:POU3F4
2801:DFNA15
2795:POU4F3
2740:MODY 4
2720:HOXD13
2628:MRX 89
2623:MODY 7
2557:MODY 1
2278:OFC 11
2234:Ephrin
2202:ligand
1941:Gonads
1898:Vagina
1823:Female
1758:400044
1585:
1577:
1539:
1529:
1521:
1476:
1449:
1441:
1402:
1394:
1386:
1322:
1314:
1306:
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1251:
1180:
1073:
1042:
1032:
981:
973:
934:
910:
857:
822:
812:
804:
763:
753:
745:
706:
696:
688:
520:, and
449:(both
435:vagina
431:cervix
423:uterus
374:testes
317:154230
308:17q25
297:613080
277:612965
257:233420
237:400044
228:Locus
155:gonads
132:London
114:. The
102:of an
88:vulvas
3311:TNDM1
3305:ZFP57
3214:SOX10
3070:FOXP3
3056:FOXL2
3042:FOXI1
3028:FOXF1
3014:FOXE3
3000:FOXE1
2986:FOXC2
2967:FOXC1
2815:DFNX2
2781:PITX2
2748:LMX1B
2357:BMP15
2337:Other
2133:Other
2086:Penis
2058:Other
2005:Other
1983:Ovary
1780:31464
1747:752.7
1732:Q56.4
1583:S2CID
1400:S2CID
1320:S2CID
1265:S2CID
1143:(PDF)
979:S2CID
908:S2CID
378:genes
322:DMRT1
288:9q33
283:NR5A1
225:Gene
217:Type
3341:OFC8
3319:TP63
3291:TCF4
3236:4.11
3095:IRF6
3076:IPEX
2942:PAX9
2928:PAX8
2909:PAX6
2895:PAX4
2881:PAX3
2867:PAX2
2842:ZEB2
2823:ZEB1
2773:OFC5
2762:MSX1
2734:PDX1
2706:MNX1
2530:CAIS
2525:MAIS
2520:PAIS
2369:TSHB
2315:EDN3
1833:and
1827:male
1825:and
1764:MeSH
1753:OMIM
1742:9-CM
1637:2021
1612:2022
1575:PMID
1537:PMID
1519:ISSN
1485:2023
1474:PMID
1447:PMID
1439:ISSN
1392:PMID
1384:ISSN
1349:2022
1312:PMID
1304:ISSN
1257:PMID
1249:ISSN
1189:2023
1178:PMID
1125:2022
1100:2022
1071:PMID
1040:PMID
995:2021
971:PMID
932:PMID
855:PMID
820:PMID
802:ISSN
761:PMID
743:ISSN
704:PMID
686:ISSN
536:and
453:and
303:CBX2
221:OMIM
181:eggs
3263:0.6
3195:SF1
3172:4.7
3146:4.3
3130:4.2
3087:3.5
2959:3.3
2859:3.2
2687:ARX
2679:3.1
2652:2.5
2597:2.3
2576:2.2
2508:):
2498:2.1
2469:1.3
2448:1.2
2345:DHH
2270:TGF
2252:WNT
1835:DSD
1738:ICD
1723:ICD
1689:doi
1567:doi
1527:PMC
1511:doi
1431:doi
1376:doi
1296:doi
1292:101
1241:doi
1030:PMC
1022:doi
963:doi
959:115
900:doi
847:doi
810:PMC
792:doi
751:PMC
735:doi
694:PMC
678:doi
437:).
397:or
383:SRY
324:/2
263:DHH
243:SRY
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