55:
356:. 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
495:
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
1753:
1738:
2435:
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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.
1829:
2428:
2421:
3348:
500:, 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.
2207:
938:[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].
2402:
1822:
491:, 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
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1815:
519:
Swyer syndrome is an example of a condition in which an externally unambiguous female body carries dysgenetic, atypical, or abnormal gonads. Other examples include
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2200:
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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.
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2603:
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520:
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typical of females and nonfunctional gonads. Individuals are most commonly diagnosed during adolescence after puberty fails to occur.
2413:
1217:
2234:
1807:
853:
Massanyi EZ, Dicarlo HN, Migeon CJ, Gearhart JP (29 December 2012). "Review and management of 46,XY disorders of sex development".
2643:
122:
3447:
2562:
2530:
739:"Two successful pregnancies after in vitro fertilisation with oocyte donation in a patient with Swyer syndrome â a case report"
497:
472:
do not develop. This is especially true of estrogenic changes such as breast development, widening of the pelvis and hips, and
2239:
3152:
2577:
2160:
1480:
Gottlieb, Bruce; Trifiro, Mark A. (1993), Adam, Margaret P.; Everman, David B.; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.),
604:
3390:
3021:
3414:
2802:
2475:
906:
Eh, Zheng; Liu, Weili (June 1994). "A familial 46 XY gonadal dysgenesis and high incidence of embryonic gonadal tumors".
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1850:
609:
599:
469:
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2702:
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2011:
1300:"Evaluation of delayed puberty: what diagnostic tests should be performed in the seemingly otherwise well adolescent?"
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1988:
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1002:
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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
3173:
2628:
371:
as PGD, 46,XX. People with PGD have a normal karyotype but may have defects of a specific gene on a chromosome.
204:. Streak gonads are usually removed within a year or so of diagnosis, since the cancer can begin during infancy.
28:
3258:
1842:
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1641:
634:
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2935:
2783:
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3344:
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387:. The early stages of testicular formation in the second month of gestation requires the action of several
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Seven other genes have been identified with probable associations that are as yet less clearly understood.
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3116:
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2032:
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118:
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result of a failure of the gonads to develop properly, and hence is part of a class of conditions termed
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2830:
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2275:
2267:
2217:
2165:
2006:
1573:
Banoth M, Naru RR, Inamdar MB, Chowhan AK (May 2018). "Familial Swyer syndrome: a rare genetic entity".
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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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Urban, Aleksandra; Knap-Wielgus, Weronika; Grymowicz, Monika; Smolarczyk, Roman (September 2021).
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with Y chromosome-containing cells have a high likelihood of developing cancer, especially
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1946:
614:
532:
484:
473:
357:
130:
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796:"A Rare Case of Swyer Syndrome in Two Sisters with Successful Pregnancy Outcome in Both"
2741:
2491:
2360:
1973:
1921:
1903:
1898:
1642:"Mami Y Yo y Mi Gallito, by Director Arisleyda Dilone â Intersex Campaign for Equality"
1547:
1514:
1050:
1025:
830:
795:
771:
738:
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681:
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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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134:
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54:
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therapy is typically commenced, promoting the development of female characteristics.
477:
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and a mixture of cell lines, some containing a Y chromosome (e.g., 46,XY/45,X).
313:
173:
62:
1795:
1433:
Zieliñska, Dorota; Zajaczek, Stanislaw; Rzepka-Górska, Izabella (29 May 2007).
1185:
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46,XY gonadal dysgenesis, complete or partial, with or without adrenal failure
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1983:
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17:
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Hormone replacement therapy can also reduce the likelihood of osteoporosis.
548:
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492:
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184:
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126:
94:
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1466:
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1130:"SRY sex determining region Y [Homo sapiens (human)] - Gene - NCBI"
1090:
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754:
723:
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1965:
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461:
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141:. The syndrome was named after Gerald Swyer, an endocrinologist based in
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fail to differentiate into testes in an XY fetus. Without testes, no
384:
142:
1298:
Abitbol, Leah; Zborovski, Stephen; Palmert, Mark R. (19 July 2016).
324:
46,XY gonadal dysgenesis, complete or partial, with 9p24.3 deletion
1519:
Best
Practice & Research. Clinical Obstetrics & Gynaecology
3320:
3229:
3085:
3057:
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3029:
3015:
3001:
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1998:
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332:
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165:
98:
1026:"Recent findings on the genetics of disorders of sex development"
680:
Taneja, Jyoti; Ogutu, David; Ah-Moye, Michael (18 October 2016).
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287:
267:
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231:
191:
2417:
2189:
1811:
101:, the person has underdeveloped gonads, fibrous tissue termed "
1693:"Complete gonadal dysgenesis with XY chromosomal constitution"
393:
253:
27:"Swyer syndrome" redirects here. For the lung condition, see
971:
965:
Michala, L.; Goswami, D.; Creighton, SM; Conway, GS (2008).
936:"柶ææ§XYćæ§è
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682:"Rare successful pregnancy in a patient with Swyer Syndrome"
264:
46,XY gonadal dysgenesis, complete or partial, DHH-related
121:. Pregnancy is sometimes possible in Swyer syndrome with
1384:
Current
Opinion in Endocrinology, Diabetes, and Obesity
794:
Gupta, Anupam; Bajaj, Ritika; Jindal, Umesh N. (2019).
589:, Finnish singer, songwriter, and television presenter
367:
Thus Swyer syndrome is referred to as PGD, 46,XY, and
160:
The consequences of Swyer syndrome without treatment:
1186:"Embryology, Mullerian Ducts (Paramesonephric Ducts)"
456:
Due to the inability of the streak gonads to produce
391:, one of the earliest and most important of which is
360:(i.e., 45,X) and its variants, as well as those with
183:, so menstrual periods will not be predictable until
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2020:
1997:
1964:
1955:
1912:
1864:
1857:
1724:
1488:, Seattle (WA): University of Washington, Seattle,
68:
44:
39:
3349:Ectrodactylyâectodermal dysplasiaâcleft syndrome 3
397:: the sex-determining region of the Y chromosome.
1845:congenital anomalies of the genitalia, including
1691:Stoicanescu D, Belengeanu V, et al. (2006).
1668:"Sara Forsberg kertoo olevansa intersukupuolinen"
428:, resulting in a normal vulva. Without AMH, the
304:46,XY gonadal dysgenesis, complete, CBX2-related
244:46,XY gonadal dysgenesis, complete, SRY-related
1621:NORD (National Organization for Rare Disorders)
1568:
1566:
1435:"Tumors of dysgenetic gonads in Swyer syndrome"
1358:NORD (National Organization for Rare Disorders)
1192:, Treasure Island (FL): StatPearls Publishing,
893:National Organization for Rare Disorders (NORD)
1378:King, Thomas F. J.; Conway, Gerard S. (2014).
1249:Reviews in Endocrine & Metabolic Disorders
516:. There are many forms of gonadal dysgenesis.
105:", and if left untreated, will not experience
3241:Yemenite deaf-blind hypopigmentation syndrome
2429:
2403:intercellular signaling peptides and proteins
2201:
1823:
1024:Kremen J, Chan YM, Swartz JM (January 2017).
412:(AMH) is produced. Without testosterone, the
8:
432:develop into normal internal female organs (
97:is 46,XY. Though they typically have normal
1245:"The adrenal and polycystic ovary syndrome"
967:"Swyer syndrome: Presentation and outcomes"
3373:
3275:
3142:
2691:
2510:
2460:
2436:
2422:
2414:
2312:Autoimmune lymphoproliferative syndrome 1B
2208:
2194:
2186:
2097:
1961:
1861:
1830:
1816:
1808:
1721:
1243:Yildiz, Bulent O.; Azziz, Ricardo (2007).
53:
36:
1546:
1184:Wilson, Danielle; Bordoni, Bruno (2022),
1049:
934:E, Z; Xu, XL; Li, C; Gao, FZ (May 1981).
829:
811:
770:
743:PrzeglaÌd Menopauzalny = Menopause Review
713:
194:, so conceiving children is not possible.
2845:Posterior polymorphous corneal dystrophy
2675:Autoimmune polyendocrine syndrome type 1
1163:Department of Anatomy & Cell Biology
521:complete androgen insensitivity syndrome
420:is formed and consequently the external
224:
3036:Anterior segment mesenchymal dysgenesis
651:
3453:Congenital disorders of genital organs
2065:Congenital absence of the vas deferens
800:Journal of Human Reproductive Sciences
383:of a male fetus is the development of
2568:X-linked adrenal hypoplasia congenita
2235:EDA Hypohidrotic ectodermal dysplasia
1513:Witchel, Selma Feldman (April 2018).
1073:Bomalaski, M. David (February 2005).
529:lipoid congenital adrenal hyperplasia
172:is administered. This is often given
7:
2620:Greig cephalopolysyndactyly syndrome
657:
655:
2994:Iridogoniodysgenesis, dominant type
932:Originally published in Chinese as
400:When such a gene is defective, the
187:is administered, usually as a pill.
137:. The typical medical treatment is
2081:Persistent MĂŒllerian duct syndrome
1075:"A practical approach to intersex"
908:Chinese Journal of Cancer Research
630:Persistent MĂŒllerian duct syndrome
153:Those with Swyer syndrome develop
25:
1666:Kantola, Iida (27 October 2023).
1482:"Androgen Insensitivity Syndrome"
575:People with XY gonadal dysgenesis
3008:Lymphedemaâdistichiasis syndrome
2604:Trichoârhinoâphalangeal syndrome
2578:Familial partial lipodystrophy 3
1316:10.1136/archdischild-2015-310375
1304:Archives of Disease in Childhood
1218:"Gonadal and Placental Hormones"
1105:"SRY gene: MedlinePlus Genetics"
983:10.1111/j.1471-0528.2008.01703.x
123:assisted reproductive technology
3272:(0) Other transcription factors
2563:Estrogen insensitivity syndrome
2531:Androgen insensitivity syndrome
583:, American director and actress
498:androgen insensitivity syndrome
3153:Hyperimmunoglobulin E syndrome
2558:PHA1AD pseudohypoaldosteronism
2161:Progestin-induced virilization
1515:"Disorders of Sex Development"
1451:10.1016/j.jpedsurg.2007.05.029
1228:(1). 6 March 2013 – via
686:Case Reports in Women's Health
605:Congenital adrenal hyperplasia
508:Swyer syndrome represents one
83:XY complete gonadal dysgenesis
1:
3415:Atrichia with papular lesions
1587:10.1080/09513590.2017.1393662
1531:10.1016/j.bpobgyn.2017.11.005
487:usually reveals elevation of
470:secondary sex characteristics
3122:Popliteal pterygium syndrome
3064:Enlarged vestibular aqueduct
2903:Waardenburg syndrome 1&3
2688:(3) Helix-turn-helix domains
2447:relating to deficiencies of
1439:Journal of Pediatric Surgery
1396:10.1097/MED.0000000000000113
1042:10.1097/MOU.0000000000000353
867:10.1016/j.jpurol.2012.12.002
610:Disorders of sex development
190:Their gonads cannot produce
3222:Premature ovarian failure 7
3078:Premature ovarian failure 3
2950:Congenital hypothyroidism 2
2390:Congenital hypothyroidism 4
2378:Premature ovarian failure 4
2258:Craniofrontonasal dysplasia
2012:Unilateral ovarian agenesis
352:There are several forms of
222:of Swyer syndrome include:
139:hormone replacement therapy
3474:
3369:Transcription coregulators
3139:with minor groove contacts
2526:Thyroid hormone resistance
2240:CamuratiâEngelmann disease
1989:Sertoli cell-only syndrome
698:10.1016/j.crwh.2016.10.001
26:
3391:RubinsteinâTaybi syndrome
3217:SRY XY gonadal dysgenesis
3022:BamforthâLazarus syndrome
2634:Duane-radial ray syndrome
2583:SF1 XY gonadal dysgenesis
2366:DHH XY gonadal dysgenesis
2140:Penoscrotal transposition
1261:10.1007/s11154-007-9054-0
940:Zhonghua Zhong Liu Za Zhi
600:5α-Reductase 2 deficiency
179:Their gonads cannot make
133:(45,X0) due to a lack of
117:which is responsible for
109:. The cause is a lack or
61:
52:
3259:Cleidocranial dysostosis
2476:SaethreâChotzen syndrome
2342:Hirschsprung's disease 4
2337:Waardenburg syndrome IVb
2038:Mixed gonadal dysgenesis
1646:www.intersexequality.com
1085:(1): 11â8, 23, quiz 24.
635:Sex chromosome anomalies
379:The first known step of
362:mixed gonadal dysgenesis
3236:Waardenburg syndrome 4c
2936:Coloboma of optic nerve
2784:Tooth and nail syndrome
2624:PallisterâHall syndrome
1154:Silverman, Ann-Judith.
813:10.4103/jhrs.JHRS_14_19
348:Pure gonadal dysgenesis
3448:Gynaecologic disorders
3179:Ulnarâmammary syndrome
3137:(4) ÎČ-Scaffold factors
3117:Van der Woude syndrome
2649:TownesâBrocks syndrome
2522:Intracellular receptor
2033:Ovotesticular syndrome
755:10.5114/pm.2021.109361
410:anti-MĂŒllerian hormone
381:sexual differentiation
129:is usually similar to
119:sexual differentiation
89:, is a type of defect
3353:Limbâmammary syndrome
3341:RappâHodgkin syndrome
3313:PittâHopkins syndrome
2889:Papillorenal syndrome
2864:MowatâWilson syndrome
2770:Nailâpatella syndrome
2654:Acrocallosal syndrome
2276:Tetra-amelia syndrome
2166:Pseudohermaphroditism
2043:XY gonadal dysgenesis
2007:XX gonadal dysgenesis
1156:"Gonadal Development"
369:XX gonadal dysgenesis
40:XY gonadal dysgenesis
3195:Campomelic dysplasia
3174:LiâFraumeni syndrome
2659:Myotonic dystrophy 2
2629:DenysâDrash syndrome
2449:transcription factor
2171:True hermaphroditism
1866:Uterine malformation
1709:10.4183/aeb.2006.465
1697:Acta Endocrinologica
1230:University of Hawaii
1222:The Endocrine System
1134:www.ncbi.nlm.nih.gov
667:MedlinePlus Genetics
220:Genetic associations
29:SwyerâJames syndrome
3458:Intersex variations
2989:Axenfeld syndrome 3
2803:Axenfeld syndrome 1
2742:SPD1 synpolydactyly
2507:DNA-binding domains
1575:Gynecol. Endocrinol
1171:Columbia University
418:dihydrotestosterone
3345:HayâWells syndrome
3169:HoltâOram syndrome
2931:Gillespie syndrome
2850:Fuchs' dystrophy 3
2728:Currarino syndrome
1927:Vaginal hypoplasia
1884:Unicornuate uterus
1874:MĂŒllerian agenesis
920:10.1007/BF02997250
620:Homology (biology)
514:gonadal dysgenesis
504:Related conditions
402:indifferent gonads
354:gonadal dysgenesis
149:Signs and symptoms
93:in a person whose
3428:
3427:
3424:
3423:
3294:
3293:
3267:
3266:
3132:
3131:
2709:Ohtahara syndrome
2683:
2682:
2553:Kennedy's disease
2500:
2499:
2471:Feingold syndrome
2457:(1) Basic domains
2445:Genetic disorders
2411:
2410:
2183:
2182:
2179:
2178:
2089:
2088:
2051:
2050:
1942:Cloacal exstrophy
1932:Imperforate hymen
1894:Bicornuate uterus
1879:Cervical agenesis
1805:
1804:
1445:(10): 1721â1724.
474:menstrual periods
342:
341:
210:is often present.
164:The individual's
80:
79:
34:Medical condition
16:(Redirected from
3465:
3374:
3276:
3143:
2714:Lissencephaly X2
2692:
2599:Barakat syndrome
2511:
2461:
2438:
2431:
2424:
2415:
2210:
2203:
2196:
2187:
2098:
2028:Gonadal agenesis
1962:
1937:Vaginal adenosis
1889:Uterus didelphys
1862:
1832:
1825:
1818:
1809:
1722:
1712:
1678:
1677:
1663:
1657:
1656:
1654:
1652:
1638:
1632:
1631:
1629:
1627:
1617:"Swyer syndrome"
1613:
1607:
1606:
1570:
1561:
1560:
1550:
1510:
1504:
1503:
1502:
1500:
1477:
1471:
1470:
1430:
1424:
1423:
1380:"Swyer syndrome"
1375:
1369:
1368:
1366:
1364:
1354:"Swyer syndrome"
1350:
1344:
1343:
1295:
1289:
1288:
1240:
1234:
1233:
1214:
1208:
1207:
1206:
1204:
1181:
1175:
1174:
1169:(1) – via
1160:
1151:
1145:
1144:
1142:
1140:
1126:
1120:
1119:
1117:
1115:
1101:
1095:
1094:
1079:Urologic Nursing
1070:
1064:
1063:
1053:
1021:
1015:
1014:
1012:
1010:
1005:on 20 April 2021
1001:. Archived from
962:
956:
955:
931:
903:
897:
896:
889:"Swyer syndrome"
885:
879:
878:
850:
844:
843:
833:
815:
791:
785:
784:
774:
734:
728:
727:
717:
677:
671:
670:
663:"Swyer Syndrome"
659:
640:XX male syndrome
581:Arisleyda Dilone
543:Upon diagnosis,
225:
85:, also known as
75:Medical genetics
57:
37:
21:
3473:
3472:
3468:
3467:
3466:
3464:
3463:
3462:
3433:
3432:
3429:
3420:
3397:
3363:
3290:
3286:Kabuki syndrome
3263:
3247:
3183:
3157:
3138:
3128:
3098:
2970:
2870:
2679:
2663:
2608:
2587:
2506:
2505:(2) Zinc finger
2496:
2480:
2452:
2451:or coregulators
2442:
2412:
2407:
2348:
2316:
2298:
2280:
2262:
2244:
2221:
2214:
2184:
2175:
2144:
2085:
2069:
2047:
2016:
1993:
1951:
1947:Vaginal atresia
1908:
1853:
1836:
1806:
1801:
1800:
1733:
1719:
1690:
1687:
1685:Further reading
1682:
1681:
1665:
1664:
1660:
1650:
1648:
1640:
1639:
1635:
1625:
1623:
1615:
1614:
1610:
1572:
1571:
1564:
1512:
1511:
1507:
1498:
1496:
1479:
1478:
1474:
1432:
1431:
1427:
1377:
1376:
1372:
1362:
1360:
1352:
1351:
1347:
1297:
1296:
1292:
1242:
1241:
1237:
1216:
1215:
1211:
1202:
1200:
1183:
1182:
1178:
1158:
1153:
1152:
1148:
1138:
1136:
1128:
1127:
1123:
1113:
1111:
1109:medlineplus.gov
1103:
1102:
1098:
1072:
1071:
1067:
1023:
1022:
1018:
1008:
1006:
964:
963:
959:
933:
905:
904:
900:
887:
886:
882:
852:
851:
847:
793:
792:
788:
736:
735:
731:
679:
678:
674:
661:
660:
653:
648:
615:Fraser syndrome
596:
577:
569:
560:
541:
533:Turner syndrome
506:
485:delayed puberty
468:), most of the
454:
438:fallopian tubes
430:MĂŒllerian ducts
377:
358:Turner syndrome
350:
217:
151:
131:Turner syndrome
35:
32:
23:
22:
15:
12:
11:
5:
3471:
3469:
3461:
3460:
3455:
3450:
3445:
3435:
3434:
3426:
3425:
3422:
3421:
3419:
3418:
3405:
3403:
3399:
3398:
3396:
3395:
3394:
3393:
3380:
3378:
3371:
3365:
3364:
3362:
3361:
3360:
3359:
3331:
3330:
3329:
3317:
3316:
3315:
3302:
3300:
3296:
3295:
3292:
3291:
3289:
3288:
3282:
3280:
3273:
3269:
3268:
3265:
3264:
3262:
3261:
3255:
3253:
3249:
3248:
3246:
3245:
3244:
3243:
3238:
3226:
3225:
3224:
3219:
3207:
3202:
3197:
3191:
3189:
3185:
3184:
3182:
3181:
3176:
3171:
3165:
3163:
3159:
3158:
3156:
3155:
3149:
3147:
3140:
3134:
3133:
3130:
3129:
3127:
3126:
3125:
3124:
3119:
3106:
3104:
3100:
3099:
3097:
3096:
3095:
3094:
3082:
3081:
3080:
3068:
3067:
3066:
3054:
3053:
3052:
3040:
3039:
3038:
3026:
3025:
3024:
3012:
3011:
3010:
2998:
2997:
2996:
2991:
2978:
2976:
2972:
2971:
2969:
2968:
2967:
2966:
2954:
2953:
2952:
2940:
2939:
2938:
2933:
2921:
2920:
2919:
2907:
2906:
2905:
2893:
2892:
2891:
2878:
2876:
2872:
2871:
2869:
2868:
2867:
2866:
2854:
2853:
2852:
2847:
2835:
2834:
2833:
2821:
2820:
2819:
2807:
2806:
2805:
2793:
2792:
2791:
2786:
2774:
2773:
2772:
2760:
2759:
2758:
2746:
2745:
2744:
2732:
2731:
2730:
2718:
2717:
2716:
2711:
2698:
2696:
2689:
2685:
2684:
2681:
2680:
2678:
2677:
2671:
2669:
2665:
2664:
2662:
2661:
2656:
2651:
2646:
2641:
2636:
2631:
2626:
2616:
2614:
2610:
2609:
2607:
2606:
2601:
2595:
2593:
2589:
2588:
2586:
2585:
2580:
2575:
2570:
2565:
2560:
2555:
2550:
2549:
2548:
2543:
2538:
2528:
2517:
2515:
2508:
2502:
2501:
2498:
2497:
2495:
2494:
2492:Tietz syndrome
2488:
2486:
2482:
2481:
2479:
2478:
2473:
2467:
2465:
2458:
2454:
2453:
2443:
2441:
2440:
2433:
2426:
2418:
2409:
2408:
2406:
2405:
2400:
2398:
2394:
2393:
2381:
2369:
2356:
2354:
2350:
2349:
2347:
2346:
2345:
2344:
2339:
2326:
2324:
2318:
2317:
2315:
2314:
2308:
2306:
2300:
2299:
2297:
2296:
2290:
2288:
2282:
2281:
2279:
2278:
2272:
2270:
2264:
2263:
2261:
2260:
2254:
2252:
2246:
2245:
2243:
2242:
2237:
2231:
2229:
2223:
2222:
2216:Extracellular
2215:
2213:
2212:
2205:
2198:
2190:
2181:
2180:
2177:
2176:
2174:
2173:
2168:
2163:
2158:
2152:
2150:
2146:
2145:
2143:
2142:
2137:
2132:
2127:
2122:
2117:
2112:
2106:
2104:
2095:
2091:
2090:
2087:
2086:
2084:
2083:
2077:
2075:
2071:
2070:
2068:
2067:
2061:
2059:
2053:
2052:
2049:
2048:
2046:
2045:
2040:
2035:
2030:
2024:
2022:
2018:
2017:
2015:
2014:
2009:
2003:
2001:
1995:
1994:
1992:
1991:
1986:
1981:
1976:
1974:Cryptorchidism
1970:
1968:
1959:
1953:
1952:
1950:
1949:
1944:
1939:
1934:
1929:
1924:
1922:Vaginal septum
1918:
1916:
1910:
1909:
1907:
1906:
1904:Arcuate uterus
1901:
1899:Uterine septum
1896:
1891:
1886:
1881:
1876:
1870:
1868:
1859:
1855:
1854:
1837:
1835:
1834:
1827:
1820:
1812:
1803:
1802:
1799:
1798:
1787:
1776:
1765:
1750:
1734:
1729:
1728:
1726:
1725:Classification
1718:
1717:External links
1715:
1714:
1713:
1686:
1683:
1680:
1679:
1658:
1633:
1608:
1581:(5): 389â393.
1562:
1505:
1472:
1425:
1390:(6): 504â510.
1370:
1345:
1310:(8): 767â771.
1290:
1255:(4): 331â342.
1235:
1209:
1176:
1146:
1121:
1096:
1065:
1030:Curr Opin Urol
1016:
977:(6): 737â741.
957:
942:(in Chinese).
914:(2): 144â148.
898:
880:
861:(3): 368â379.
855:J Pediatr Urol
845:
806:(3): 267â269.
786:
749:(3): 158â161.
729:
672:
650:
649:
647:
644:
643:
642:
637:
632:
627:
622:
617:
612:
607:
602:
595:
592:
591:
590:
584:
576:
573:
568:
565:
559:
556:
540:
537:
505:
502:
483:Evaluation of
478:adrenal glands
453:
450:
414:Wolffian ducts
376:
373:
349:
346:
340:
339:
336:
330:
325:
321:
320:
317:
310:
305:
301:
300:
297:
290:
285:
281:
280:
277:
270:
265:
261:
260:
257:
250:
245:
241:
240:
237:
234:
229:
216:
213:
212:
211:
205:
202:gonadoblastoma
195:
188:
177:
150:
147:
135:X inactivation
87:Swyer syndrome
78:
77:
72:
66:
65:
59:
58:
50:
49:
48:Swyer syndrome
46:
42:
41:
33:
24:
18:Swyer syndrome
14:
13:
10:
9:
6:
4:
3:
2:
3470:
3459:
3456:
3454:
3451:
3449:
3446:
3444:
3441:
3440:
3438:
3431:
3416:
3412:
3411:
3407:
3406:
3404:
3400:
3392:
3389:
3388:
3387:
3386:
3382:
3381:
3379:
3375:
3372:
3370:
3366:
3358:
3354:
3350:
3346:
3342:
3339:
3338:
3337:
3336:
3332:
3328:
3325:
3324:
3323:
3322:
3318:
3314:
3311:
3310:
3309:
3308:
3304:
3303:
3301:
3297:
3287:
3284:
3283:
3281:
3277:
3274:
3270:
3260:
3257:
3256:
3254:
3250:
3242:
3239:
3237:
3234:
3233:
3232:
3231:
3227:
3223:
3220:
3218:
3215:
3214:
3213:
3212:
3208:
3206:
3203:
3201:
3198:
3196:
3193:
3192:
3190:
3186:
3180:
3177:
3175:
3172:
3170:
3167:
3166:
3164:
3160:
3154:
3151:
3150:
3148:
3144:
3141:
3135:
3123:
3120:
3118:
3115:
3114:
3113:
3112:
3108:
3107:
3105:
3101:
3093:
3090:
3089:
3088:
3087:
3083:
3079:
3076:
3075:
3074:
3073:
3069:
3065:
3062:
3061:
3060:
3059:
3055:
3051:
3048:
3047:
3046:
3045:
3041:
3037:
3034:
3033:
3032:
3031:
3027:
3023:
3020:
3019:
3018:
3017:
3013:
3009:
3006:
3005:
3004:
3003:
2999:
2995:
2992:
2990:
2987:
2986:
2985:
2984:
2980:
2979:
2977:
2973:
2965:
2962:
2961:
2960:
2959:
2955:
2951:
2948:
2947:
2946:
2945:
2941:
2937:
2934:
2932:
2929:
2928:
2927:
2926:
2922:
2918:
2915:
2914:
2913:
2912:
2908:
2904:
2901:
2900:
2899:
2898:
2894:
2890:
2887:
2886:
2885:
2884:
2880:
2879:
2877:
2873:
2865:
2862:
2861:
2860:
2859:
2855:
2851:
2848:
2846:
2843:
2842:
2841:
2840:
2836:
2832:
2829:
2828:
2827:
2826:
2822:
2818:
2815:
2814:
2813:
2812:
2808:
2804:
2801:
2800:
2799:
2798:
2794:
2790:
2787:
2785:
2782:
2781:
2780:
2779:
2775:
2771:
2768:
2767:
2766:
2765:
2761:
2757:
2754:
2753:
2752:
2751:
2747:
2743:
2740:
2739:
2738:
2737:
2733:
2729:
2726:
2725:
2724:
2723:
2719:
2715:
2712:
2710:
2707:
2706:
2705:
2704:
2700:
2699:
2697:
2693:
2690:
2686:
2676:
2673:
2672:
2670:
2666:
2660:
2657:
2655:
2652:
2650:
2647:
2645:
2642:
2640:
2637:
2635:
2632:
2630:
2627:
2625:
2621:
2618:
2617:
2615:
2611:
2605:
2602:
2600:
2597:
2596:
2594:
2590:
2584:
2581:
2579:
2576:
2574:
2571:
2569:
2566:
2564:
2561:
2559:
2556:
2554:
2551:
2547:
2544:
2542:
2539:
2537:
2534:
2533:
2532:
2529:
2527:
2523:
2519:
2518:
2516:
2512:
2509:
2503:
2493:
2490:
2489:
2487:
2483:
2477:
2474:
2472:
2469:
2468:
2466:
2462:
2459:
2455:
2450:
2446:
2439:
2434:
2432:
2427:
2425:
2420:
2419:
2416:
2404:
2401:
2399:
2396:
2395:
2391:
2387:
2386:
2382:
2379:
2375:
2374:
2370:
2367:
2363:
2362:
2358:
2357:
2355:
2351:
2343:
2340:
2338:
2335:
2334:
2333:
2332:
2328:
2327:
2325:
2323:
2319:
2313:
2310:
2309:
2307:
2305:
2301:
2295:
2292:
2291:
2289:
2287:
2283:
2277:
2274:
2273:
2271:
2269:
2265:
2259:
2256:
2255:
2253:
2251:
2247:
2241:
2238:
2236:
2233:
2232:
2230:
2228:
2224:
2219:
2211:
2206:
2204:
2199:
2197:
2192:
2191:
2188:
2172:
2169:
2167:
2164:
2162:
2159:
2157:
2156:Clitoromegaly
2154:
2153:
2151:
2147:
2141:
2138:
2136:
2133:
2131:
2128:
2126:
2123:
2121:
2118:
2116:
2113:
2111:
2108:
2107:
2105:
2103:
2099:
2096:
2092:
2082:
2079:
2078:
2076:
2072:
2066:
2063:
2062:
2060:
2058:
2054:
2044:
2041:
2039:
2036:
2034:
2031:
2029:
2026:
2025:
2023:
2019:
2013:
2010:
2008:
2005:
2004:
2002:
2000:
1996:
1990:
1987:
1985:
1982:
1980:
1979:Polyorchidism
1977:
1975:
1972:
1971:
1969:
1967:
1963:
1960:
1958:
1954:
1948:
1945:
1943:
1940:
1938:
1935:
1933:
1930:
1928:
1925:
1923:
1920:
1919:
1917:
1915:
1911:
1905:
1902:
1900:
1897:
1895:
1892:
1890:
1887:
1885:
1882:
1880:
1877:
1875:
1872:
1871:
1869:
1867:
1863:
1860:
1856:
1852:
1848:
1844:
1840:
1833:
1828:
1826:
1821:
1819:
1814:
1813:
1810:
1797:
1793:
1792:
1788:
1786:
1782:
1781:
1777:
1775:
1771:
1770:
1766:
1764:
1760:
1759:
1755:
1751:
1749:
1745:
1744:
1740:
1736:
1735:
1732:
1727:
1723:
1716:
1710:
1706:
1703:(4): 465â70.
1702:
1698:
1694:
1689:
1688:
1684:
1676:(in Finnish).
1675:
1674:
1669:
1662:
1659:
1647:
1643:
1637:
1634:
1622:
1618:
1612:
1609:
1604:
1600:
1596:
1592:
1588:
1584:
1580:
1576:
1569:
1567:
1563:
1558:
1554:
1549:
1544:
1540:
1536:
1532:
1528:
1524:
1520:
1516:
1509:
1506:
1495:
1491:
1487:
1483:
1476:
1473:
1468:
1464:
1460:
1456:
1452:
1448:
1444:
1440:
1436:
1429:
1426:
1421:
1417:
1413:
1409:
1405:
1401:
1397:
1393:
1389:
1385:
1381:
1374:
1371:
1359:
1355:
1349:
1346:
1341:
1337:
1333:
1329:
1325:
1321:
1317:
1313:
1309:
1305:
1301:
1294:
1291:
1286:
1282:
1278:
1274:
1270:
1266:
1262:
1258:
1254:
1250:
1246:
1239:
1236:
1231:
1227:
1223:
1219:
1213:
1210:
1199:
1195:
1191:
1187:
1180:
1177:
1172:
1168:
1164:
1157:
1150:
1147:
1135:
1131:
1125:
1122:
1110:
1106:
1100:
1097:
1092:
1088:
1084:
1080:
1076:
1069:
1066:
1061:
1057:
1052:
1047:
1043:
1039:
1035:
1031:
1027:
1020:
1017:
1004:
1000:
996:
992:
988:
984:
980:
976:
972:
968:
961:
958:
953:
949:
945:
941:
937:
929:
925:
921:
917:
913:
909:
902:
899:
894:
890:
884:
881:
876:
872:
868:
864:
860:
856:
849:
846:
841:
837:
832:
827:
823:
819:
814:
809:
805:
801:
797:
790:
787:
782:
778:
773:
768:
764:
760:
756:
752:
748:
744:
740:
733:
730:
725:
721:
716:
711:
707:
703:
699:
695:
691:
687:
683:
676:
673:
668:
664:
658:
656:
652:
645:
641:
638:
636:
633:
631:
628:
626:
623:
621:
618:
616:
613:
611:
608:
606:
603:
601:
598:
597:
593:
588:
587:Sara Forsberg
585:
582:
579:
578:
574:
572:
566:
564:
557:
555:
552:
550:
546:
538:
536:
534:
530:
526:
522:
517:
515:
511:
503:
501:
499:
494:
490:
489:gonadotropins
486:
481:
479:
475:
471:
467:
463:
459:
451:
449:
447:
443:
439:
435:
431:
427:
423:
419:
415:
411:
407:
403:
398:
396:
395:
390:
386:
382:
374:
372:
370:
365:
363:
359:
355:
347:
345:
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198:Streak gonads
196:
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174:transdermally
171:
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103:streak gonads
100:
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64:
60:
56:
51:
47:
43:
38:
30:
19:
3430:
3408:
3402:Corepressor:
3383:
3377:Coactivator:
3333:
3319:
3305:
3228:
3216:
3209:
3109:
3084:
3070:
3056:
3042:
3028:
3014:
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2981:
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2776:
2762:
2748:
2734:
2720:
2701:
2582:
2383:
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2359:
2329:
2057:Vas deferens
2042:
1789:
1778:
1767:
1752:
1737:
1700:
1696:
1673:Ilta-Sanomat
1671:
1661:
1649:. Retrieved
1645:
1636:
1624:. Retrieved
1620:
1611:
1578:
1574:
1522:
1518:
1508:
1497:, retrieved
1486:GeneReviewsÂź
1485:
1475:
1442:
1438:
1428:
1387:
1383:
1373:
1361:. Retrieved
1357:
1348:
1307:
1303:
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1252:
1248:
1238:
1225:
1221:
1212:
1201:, retrieved
1189:
1179:
1166:
1162:
1149:
1137:. Retrieved
1133:
1124:
1112:. Retrieved
1108:
1099:
1082:
1078:
1068:
1033:
1029:
1019:
1007:. Retrieved
1003:the original
974:
970:
960:
946:(2): 89â90.
943:
939:
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689:
685:
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570:
561:
558:Epidemiology
553:
542:
525:X chromosome
518:
507:
482:
458:sex hormones
455:
406:testosterone
399:
392:
378:
375:Pathogenesis
366:
351:
343:
312:
292:
272:
252:
218:
181:progesterone
159:
152:
111:inactivation
91:hypogonadism
86:
82:
81:
2110:Hypospadias
549:progestogen
527:deletions,
63:Protein SRY
45:Other names
3437:Categories
2322:Endothelin
2304:Fas ligand
2125:Micropenis
2115:Epispadias
1984:Monorchism
1791:DiseasesDB
1525:: 90â102.
1499:20 January
1203:20 January
1190:StatPearls
1036:(1): 1â6.
1009:11 January
646:References
523:, partial
510:phenotypic
208:Osteopenia
155:phenotypes
3443:Syndromes
3299:Ungrouped
2220:disorders
2135:Diphallia
1539:1521-6934
1459:1531-5037
1404:1752-2978
1324:1468-2044
1269:1389-9155
822:0974-1208
763:1643-8876
706:2214-9112
539:Treatment
493:karyotype
476:. As the
466:androgens
462:estrogens
452:Diagnosis
422:genitalia
185:progestin
127:phenotype
95:karyotype
70:Specialty
2397:See also
2227:Cytokine
2130:Aphallia
2094:External
1966:Testicle
1858:Internal
1847:intersex
1651:27 March
1626:23 March
1595:29069951
1557:29503125
1494:20301602
1467:17923202
1420:20181415
1412:25314337
1363:28 March
1340:25495530
1332:27190100
1285:32857950
1277:17932770
1198:32491659
1139:23 March
1114:23 March
1091:15779688
1060:27798415
999:11953597
991:18410658
928:84107076
875:23276787
840:31576088
781:34703418
724:29629300
625:Intersex
594:See also
545:estrogen
426:virilize
424:fail to
279:12q13.1
215:Genetics
170:estrogen
115:SRY gene
3050:ACD/MPV
2120:Chordee
1785:D006061
1603:4452231
1548:5866176
1051:5877806
952:7307902
831:6764226
772:8525253
715:5885995
692:: 1â2.
567:History
338:9p24.3
259:Yp11.3
107:puberty
3385:CREBBP
3205:MODY 5
3200:MODY 3
2964:STHAG3
2917:MODY 9
2825:POU3F4
2817:DFNA15
2811:POU4F3
2756:MODY 4
2736:HOXD13
2644:MRX 89
2639:MODY 7
2573:MODY 1
2294:OFC 11
2250:Ephrin
2218:ligand
1957:Gonads
1914:Vagina
1839:Female
1774:400044
1601:
1593:
1555:
1545:
1537:
1492:
1465:
1457:
1418:
1410:
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926:
873:
838:
828:
820:
779:
769:
761:
722:
712:
704:
531:, and
460:(both
446:vagina
442:cervix
434:uterus
385:testes
328:154230
319:17q25
308:613080
288:612965
268:233420
248:400044
239:Locus
166:gonads
143:London
125:. The
113:of an
99:vulvas
3327:TNDM1
3321:ZFP57
3230:SOX10
3086:FOXP3
3072:FOXL2
3058:FOXI1
3044:FOXF1
3030:FOXE3
3016:FOXE1
3002:FOXC2
2983:FOXC1
2831:DFNX2
2797:PITX2
2764:LMX1B
2373:BMP15
2353:Other
2149:Other
2102:Penis
2074:Other
2021:Other
1999:Ovary
1796:31464
1763:752.7
1748:Q56.4
1599:S2CID
1416:S2CID
1336:S2CID
1281:S2CID
1159:(PDF)
995:S2CID
924:S2CID
389:genes
333:DMRT1
299:9q33
294:NR5A1
236:Gene
228:Type
3357:OFC8
3335:TP63
3307:TCF4
3252:4.11
3111:IRF6
3092:IPEX
2958:PAX9
2944:PAX8
2925:PAX6
2911:PAX4
2897:PAX3
2883:PAX2
2858:ZEB2
2839:ZEB1
2789:OFC5
2778:MSX1
2750:PDX1
2722:MNX1
2546:CAIS
2541:MAIS
2536:PAIS
2385:TSHB
2331:EDN3
1849:and
1843:male
1841:and
1780:MeSH
1769:OMIM
1758:9-CM
1653:2021
1628:2022
1591:PMID
1553:PMID
1535:ISSN
1501:2023
1490:PMID
1463:PMID
1455:ISSN
1408:PMID
1400:ISSN
1365:2022
1328:PMID
1320:ISSN
1273:PMID
1265:ISSN
1205:2023
1194:PMID
1141:2022
1116:2022
1087:PMID
1056:PMID
1011:2021
987:PMID
948:PMID
871:PMID
836:PMID
818:ISSN
777:PMID
759:ISSN
720:PMID
702:ISSN
547:and
464:and
314:CBX2
232:OMIM
192:eggs
3279:0.6
3211:SF1
3188:4.7
3162:4.3
3146:4.2
3103:3.5
2975:3.3
2875:3.2
2703:ARX
2695:3.1
2668:2.5
2613:2.3
2592:2.2
2524:):
2514:2.1
2485:1.3
2464:1.2
2361:DHH
2286:TGF
2268:WNT
1851:DSD
1754:ICD
1739:ICD
1705:doi
1583:doi
1543:PMC
1527:doi
1447:doi
1392:doi
1312:doi
1308:101
1257:doi
1046:PMC
1038:doi
979:doi
975:115
916:doi
863:doi
826:PMC
808:doi
767:PMC
751:doi
710:PMC
694:doi
448:).
408:or
394:SRY
335:/2
274:DHH
254:SRY
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