62:
813:
774:
75:
pelvic examination (checking for maturation of external internal genitals), general examination (looking for secondary sexual characters), chromosome karyotyping, hormone levels like FSH, LH (which are increased in case of purely XX dysgenesis), family
2029:
2014:
2125:
1578:
Kusz, Kamila; Kotecki, Maciej; Wojda, Alina; Szarras-Czapnik, Maria; Latos-Bielenska, Anna; Warenik-Szymankiewicz, Alina; Ruszczynska-Wolska, Anna; Jaruzelska, Jadwiga (1 June 1999).
1117:
Jorgensen A, Johansen M, Juul A, Skakkebaek N, Main K, Rajpert-De Meyts E (2015). "Pathogenesis of germ cell neoplasia in testicular dysgenesis and disorders of sex development".
2083:
851:
in 1938. 46,XX pure gonadal dysgenesis was first reported in 1960. 46,XY pure gonadal dysgenesis, also known as Swyer syndrome, was first described by Gim Swyer in 1955.
2896:
2901:
499:. 46,XY gonadal dysgenesis can remain unsuspected until delayed pubertal development is observed. Approximately 15% of cases of 46,XY gonadal dysgenesis carry
860:
2652:
139:
Differentiation of the gonads requires a tightly regulated cascade of genetic, molecular and morphogenic events. At the formation of the developed gonad,
423:
1627:
461:
formation and testis differentiation. An absence in SRY causes SOX9 to not be expressed at the usual time or concentration, leading to a decreased
2076:
435:
1384:
Barseghyan H, Symon A, Zadikyan M, Almalvez M, Segura E, Eskin A, Bramble M, Arboleda V, Bazter R, Nelson S, Delot E, Harley V, Vilain E (2018).
404:
309:
1703:
1217:
1058:
485:
1493:
Rey, Rodolfo; Josso, Nathalie; Racine, Chrystèle (2000), Feingold, Kenneth R.; Anawalt, Bradley; Blackman, Marc R.; Boyce, Alison (eds.),
2765:
1952:
Nistal M, Paniagua R, González-Peramato P, Reyes-Múgica M (2015). "Perspectives in
Pediatric Pathology, Chapter 5. Gonadal Dysgenesis".
2926:
2069:
1240:"46, XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing"
2755:
1854:
940:
536:
The degree of development of the male reproductive tract is determined by the ratio of germ line cells expressing the XY genotype.
484:
development and promotes the development of female genitalia, if anti-MĂĽllerian hormone is suppressed or the body is insensitive,
2338:
2737:
2680:
2270:
2911:
2731:
2670:
2608:
848:
665:
555:
447:
2225:
1553:
1386:"Identification of novel candidate genes for 46, XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model"
673:
286:
114:
2254:
2916:
2674:
2666:
2622:
2314:
2189:
2167:
758:
427:
267:
86:
2865:
2853:
2233:
2120:
125:
2310:
2306:
503:
mutations in the SRY gene, with an unknown causation for the remaining portion of 46,XY gonadal dysgenesis persons.
2612:
2375:
1200:
Nieschlag E, Behre H, Wieacker P, Meschede D, Kamischke A, Kliesch S (2010). "Disorders at the
Testicular Level".
2779:
2741:
2540:
1291:"Mutations in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure"
585:. The chromosomal loss results in partial expression of the SRY gene, giving rise to atypical development of the
574:
466:
415:, all fetuses are anatomically undifferentiated which are then differentiated via androgen's and SRY activation.
343:
277:
FSH and LH are secreted at elevated levels. Increased levels of these hormones will cause the body to not start
2229:
2044:
754:
540:
477:
194:
2795:
2787:
2773:
2759:
2717:
2638:
2350:
1658:
296:
46,XX gonadal dysgenesis can manifest from a variety of causes. Interruption during ovarian development in
2921:
2241:
2092:
607:
162:
Gonadal dysgenesis arises from a difference in signalling in this tightly regulated process during early
2869:
1635:
1289:
Aittomaki K, Lucena J, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila E (1995).
451:
325:
235:
230:
189:
183:
90:
2849:
2845:
1826:
430:, individuals are born with normal female genitalia, however, during puberty, male differentiation and
660:
requires these vital regions of the X chromosome that are inactivated. Clinical manifestation include
2596:
2521:
2460:
2266:
738:
733:
681:
512:
198:
144:
1736:
Bashamboo A, McElreavey K (2015). "Human sex-determination and disorders of sex-development (DSD)".
438:, or if genital development is blocked, undermasculization can also be induced by certain drugs and
422:
with testicles inside the body where the ovaries usually are, which is caused by conditions such as
120:
Gonadal development is a process, which is primarily controlled genetically by the chromosomal sex (
61:
2769:
2582:
2216:
2033:
638:
570:
548:
351:
271:
213:
1786:
Donahoe P, Crawford J, Hendren W (1979). "Mixed
Gonadal Dysgenesis, Pathogenesis and Management".
986:
488:
occurs when the individual has partial female reproductive, and partial male reproductive organs.
2873:
2861:
2857:
2821:
2816:
2751:
2365:
2145:
1977:
1320:
1041:
Pieretti RV, Donahoe PK (2018). "Pathogenesis and
Treatment of Disorders of Sexual Development".
960:
750:
661:
653:
586:
263:
163:
558:
can have an amount of functional tissue which can produce a level of testosterone, which causes
2906:
2835:
2452:
2371:
2326:
2294:
2282:
1969:
1896:
1850:
1803:
1753:
1709:
1699:
1609:
1502:
1475:
1417:
1366:
1312:
1271:
1213:
1169:
1134:
1094:
1054:
936:
709:
521:
or partial gonadal dysgenesis, is a sex development difference associated with sex chromosome
481:
70:
50:
1580:"Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome"
551:
of testis and streak gonad, accounted for by the percentage of cells expressing XY genotype.
2830:
2826:
2723:
2600:
2568:
2199:
1961:
1914:
1886:
1795:
1745:
1691:
1686:
Biason-Lauber A (2006). "The Battle of the Sexes: Human Sex
Development and Its Disorders".
1599:
1591:
1465:
1455:
1407:
1397:
1356:
1302:
1261:
1251:
1205:
1161:
1126:
1086:
1046:
946:
928:
923:
Hughes I (2008). "The Testes: Disorders of Sexual
Differentiation and Puberty in the Male".
903:
742:
713:
496:
290:
55:
2840:
2429:
1444:"Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (Swyer Syndrome): a case report"
972:
721:
603:
598:
559:
518:
492:
431:
386:
313:
203:
1021:
Balsamo A, Buonocore G, Bracci R, Weindling M (2012). "Disorders of Sexual
Development".
2514:
2480:
2475:
2150:
1604:
1470:
1443:
1412:
1385:
1266:
1239:
951:
932:
656:, where a portion of critical genes are rendered inactive during embryogenesis. Normal
626:
578:
473:
382:
247:
98:
17:
2038:
1799:
812:
773:
565:
Mixed gonadal dysgenesis is poorly understood at the molecular level. The loss of the
472:
Lowered levels of testosterone and anti-MĂĽllerian hormone disrupts the development of
2890:
2709:
2509:
2470:
2465:
2393:
2379:
2355:
2343:
2331:
2319:
2299:
2204:
2182:
2177:
2155:
1361:
1344:
1307:
1290:
705:
701:
689:
582:
339:
297:
121:
101:, termed streak gonads, instead of reproductive tissue. Streak gonads are a form of
1981:
1324:
614:, giving a chromosomal count of 45, instead of the typical count of 46 chromosomes.
2504:
2411:
2407:
2287:
2275:
2259:
2247:
2237:
2140:
611:
566:
526:
462:
458:
331:
301:
250:
are present with non-functional tissues unable to produce the required sex steroid
239:
1829:. Eunice Kennedy Shriver National Institute of Health and Human Development. 2012.
2049:
1915:"Endocrine Disruptors, National Institute of Environmental Health Sciences, 2013"
1749:
1695:
1209:
1152:
Quayle S, Copeland K (1991). "46, XX Gonadal
Dysgenesis With Epibulbar Dermoid".
1130:
1090:
1050:
97:
of an embryo. One type of gonadal dysgenesis is the development of functionless,
2526:
2497:
2492:
2389:
1690:. Results and Problems in Cell Differentiation. Vol. 58. pp. 337–382.
1661:
Progress and
Politics in the intersex rights movement, Feminist theory in action
669:
443:
390:
148:
106:
1494:
450:
with ambiguous genitalia to a binary sex for cosmetic purposes is considered a
2646:
2642:
2448:
2194:
2172:
2162:
2023:
1527:
1402:
1256:
697:
693:
685:
630:
622:
522:
378:
1929:
847:
Turner syndrome was first described independently by Otto Ulrich in 1930 and
289:. If ovarian tissue is present and produces some amount of hormones, limited
2487:
2443:
2135:
2130:
1965:
1165:
865:
649:
645:
544:
530:
480:. The absence of the steroid hormones commonly associated with males drives
362:
335:
305:
251:
243:
170:
156:
152:
33:
2061:
1973:
1900:
1891:
1874:
1757:
1713:
1613:
1506:
1479:
1460:
1421:
1370:
1275:
1138:
1098:
1316:
1173:
2603:
2553:
2549:
2421:
2100:
1807:
1595:
749:. Hormones are critical for the common events in embryogenesis to occur.
746:
717:
434:
occurs. Partial genital undermasculinization can occur if the body has a
412:
408:
282:
259:
255:
133:
2006:
2656:
2439:
2112:
1579:
908:
891:
677:
618:
442:. The overall intensity of undermasculinization can manifest itself in
439:
394:
278:
140:
110:
105:, resulting in hormonal failure that manifests as sexual infantism and
102:
2018:
634:
355:
1868:
1866:
1840:
1838:
1836:
1821:
1819:
1817:
1781:
1779:
1777:
1775:
1773:
1771:
1769:
1767:
1731:
1729:
1727:
1725:
1723:
1681:
1679:
1677:
1675:
1437:
1435:
1433:
1431:
1338:
1336:
1334:
1233:
1231:
1229:
1077:
Boizet-Bonhoure B (2015). "Development and
Pathology of the Gonad".
676:. Turner syndrome is usually not diagnosed until a delayed onset of
385:. If a single or combination of these genes are mutated or deleted,
342:, the development of the male gonads is primarily controlled by the
1016:
633:
from not occurred separation of chromosomes in either the parental
2745:
2684:
2660:
2590:
1238:
Grimbly C, Caluseriu O, Metcalfe P, Jetha M, Rosolowsky E (2016).
1195:
1193:
1191:
1189:
1187:
1185:
1183:
1112:
1110:
1108:
1072:
1070:
1036:
1034:
1032:
1014:
1012:
1010:
1008:
1006:
1004:
1002:
1000:
998:
996:
870:
657:
419:
366:
129:
94:
1688:
Molecular Mechanisms of Cell Differentiation in Gonad Development
2791:
2783:
2727:
2713:
2688:
2616:
2586:
2576:
370:
300:
can cause 46,XX gonadal dysgenesis with cases of changes in the
207:
143:
production influences local and distant receptors for continued
2065:
2572:
1345:"Pure XY gonadal dysgenesis and agenesis in monozygotic twins"
807:
768:
491:
Gonadal streaks can replace the tissues of testes, resembling
374:
365:
of 46,XY gonadal dysgenesis can be caused by mutations in the
347:
927:. Vol. 135. Elsevier Health Sciences. pp. 662–685.
753:
relies on the proper timing of the delivery of hormones for
87:
congenital developmental disorder of the reproductive system
1554:"Embryos aren't female by 'default' after all, study shows"
346:
located on the sex-determining region of the Y chromosome (
529:. Mixed gonadal dysgenesis is the presence of two or more
169:
Manifestations of gonadal dysgenesis are dependent on the
610:
characterised by a partial or completely missing second
823:
784:
418:
Full undermasculinization results in a fully developed
1930:"Pesticide atrazine can turn male frogs into females"
892:"Andrology: Male Reproductive Health and Dysfunction"
1996:
2809:
2702:
2631:
2561:
2548:
2539:
2438:
2420:
2406:
2215:
2108:
2099:
2000:
987:"Gonadal Streak. Farlex Partner Medical Dictionary"
69:
49:
44:
1442:Han Y, Wang Y, Li Q, Dai S, He A, Wang E (2011).
1343:Chen H, Huang H, Chang T, Lai C, Soong Y (2006).
1244:International Journal of Pediatric Endocrinology
1947:
1945:
1943:
1873:Elsheikh M, Dunger D, Conway G, Wass J (2002).
354:initiated to several other genes to facilitate
1845:Saenger P, Bondy A (2014). "Turner Syndrome".
403:is the technical term for partial of complete
350:). The male gonad is dependent on SRY and the
330:46,XY gonadal dysgenesis is characteristic of
197:also known as partial gonadal dysgenesis, and
27:Congenital disorder of the reproductive system
2831:46,XX testicular disorders of sex development
2077:
128:), which directs the formation of the gonad (
8:
1738:Seminars in Cell & Developmental Biology
1119:Seminars in Cell & Developmental Biology
1079:Seminars in Cell & Developmental Biology
861:(DoDI) 6130.03, 2018, section 5, 13f and 14m
369:involved in testis development such as SRY,
188:Pure gonadal dysgenesis 46,XY also known as
182:Pure gonadal dysgenesis 46,XX also known as
2653:Acute myeloblastic leukemia with maturation
2558:
2545:
2417:
2105:
2084:
2070:
2062:
1997:
1528:"Chromosomal Sex Determination in Mammals"
1501:, South Dartmouth (MA): MDText.com, Inc.,
60:
41:
1890:
1603:
1469:
1459:
1411:
1401:
1360:
1306:
1265:
1255:
950:
907:
684:found to be in infantile stage. Physical
581:diffenernce of paired chromosomes during
159:(46,XX for females and 46,XY for males).
2897:Congenital disorders of endocrine system
1827:"Turner Syndrome: Condition Information"
517:Mixed gonadal dysgenesis, also known as
424:complete androgen insensitivity syndrome
1934:Berkeley News, University of California
1552:Digital, G. L. P. (21 September 2017).
882:
476:and internal genitalia that are key to
173:and severity of the underlying causes.
89:characterized by a progressive loss of
2902:Congenital disorders of genital organs
968:
958:
757:and maturation. Disruptions can cause
310:steroidogenic acute regulatory protein
254:. Low levels of oestrogen effect the
7:
1154:American Journal of Medical Genetics
606:, also known as 45,X or 45,X0, is a
2766:Desmoplastic small-round-cell tumor
1657:Alice D. Dreger; April M. Herndon.
625:during embryogenesis may result in
478:male reproductive tract development
457:SRY acts on gene SOX9 which drives
1849:(4th ed.). pp. 664–696.
1628:"Variation in Sex Characteristics"
1532:Developmental Biology. 6th edition
933:10.1016/B978-1-4160-4090-3.X5001-7
486:persistent MĂĽllerian duct syndrome
389:is disrupted, leading to atypical
25:
2339:22q11.2 distal deletion syndrome
1362:10.1016/j.fertnstert.2005.09.054
811:
772:
2738:Dermatofibrosarcoma protuberans
2681:Acute megakaryoblastic leukemia
2609:Anaplastic large-cell lymphoma
2271:Chromosome 5q deletion syndrome
1875:"Turners Syndrome in adulthood"
761:leading to gonadal dysgenesis.
448:surgical assignment of newborns
436:partial resistance to androgens
312:(StAR protein) which regulates
1204:. Springer. pp. 193–238.
1045:. Springer. pp. 241–270.
666:hypergonadotropic hypogonadism
1:
2461:Klinefelter syndrome (47,XXY)
2226:1q21.1 copy number variations
1800:10.1016/s0022-3468(79)80486-8
1043:Endocrine Surgery in Children
890:Carreau S, Lejeune H (2001).
674:secondary sex characteristics
287:secondary sex characteristics
151:changes. This results in the
115:secondary sex characteristics
2667:Acute promyelocytic leukemia
2623:Acute lymphoblastic leukemia
2315:17q12 microdeletion syndrome
2190:22q11.2 duplication syndrome
2168:16p11.2 duplication syndrome
1788:Journal of Pediatric Surgery
1750:10.1016/j.semcdb.2015.10.030
1696:10.1007/978-3-319-31973-5_13
1308:10.1016/0092-8674(95)90275-9
1210:10.1007/978-3-540-78355-8_13
1131:10.1016/j.semcdb.2015.09.013
1091:10.1016/j.semcdb.2015.11.009
1051:10.1007/978-3-662-54256-9_18
759:sexual development disorders
589:and altered hormone levels.
401:Genital Undermasculinization
266:to inhibit the secretion of
2234:1q21.1 duplication syndrome
2121:1q21.1 duplication syndrome
1584:Journal of Medical Genetics
405:undifferentiated genitallia
2943:
1526:Gilbert, Scott F. (2000),
1390:Biology of Sex Differences
731:
596:
510:
323:
228:
31:
2927:Sex differences in humans
2780:Alveolar rhabdomyosarcoma
2515:XYYYY syndrome (49,XYYYY)
2481:XXXXY syndrome (49,XXXXY)
2476:XXXYY syndrome (49,XXXYY)
1403:10.1186/s13293-018-0167-9
1257:10.1186/s13633-016-0030-x
672:, and failure to develop
543:are highly variable with
428:5α-Reductase 2 deficiency
344:testis determining factor
2255:Wolf–Hirschhorn syndrome
2230:1q21.1 deletion syndrome
2093:Chromosome abnormalities
1616:– via jmg.bmj.com.
1558:Genetic Literacy Project
1495:"Sexual Differentiation"
755:cellular differentiation
688:characteristics include
541:mixed gonadal dysgenesis
507:Mixed gonadal dysgenesis
320:46,XY gonadal dysgenesis
236:46,XX gonadal dysgenesis
225:46,XX gonadal dysgenesis
195:Mixed gonadal dysgenesis
109:, with no initiation of
32:Not to be confused with
2639:Philadelphia chromosome
2510:XYYY syndrome (48,XYYY)
2471:XXXY syndrome (48,XXXY)
2466:XXYY syndrome (48,XXYY)
2351:22q13 deletion syndrome
2126:2q31.1 microduplication
1966:10.2350/14-04-1471-PB.1
1847:Pediatric Endocrinology
1349:Fertility and Sterility
1166:10.1002/ajmg.1320400114
925:Pediatric Endocrinology
608:chromosomal abnormality
407:in individuals with an
18:Pure gonadal dysgenesis
2498:Pentasomy X (49,XXXXX)
2430:Turner syndrome (45,X)
2311:Smith–Magenis syndrome
2307:Miller–Dieker syndrome
2242:1p36 deletion syndrome
1892:10.1210/edrv.23.1.0457
1461:10.1186/1746-1596-6-84
820:This section is empty.
781:This section is empty.
467:anti-MĂĽllerian hormone
452:human rights violation
2912:Intersex and medicine
2505:XYY syndrome (47,XYY)
2493:Tetrasomy X (48,XXXX)
2376:Prader–Willi syndrome
1355:(4): 1059.9–1059.11.
728:Endocrine disruptions
652:can be the result of
525:and mosaicism of the
387:downstream signalling
326:XY gonadal dysgenesis
238:is characteristic of
231:XX gonadal dysgenesis
214:Endocrine disruptions
190:XY gonadal dysgenesis
184:XX gonadal dysgenesis
155:corresponding to the
91:primordial germ cells
85:is classified as any
2597:Mantle cell lymphoma
2267:Cri du chat syndrome
1954:Pediatr. Dev. Pathol
1596:10.1136/jmg.36.6.452
1534:, Sinauer Associates
1448:Diagnostic Pathology
739:Endocrine disruptors
734:Endocrine disruptors
682:MĂĽllerian structures
513:45,X/46,XY mosaicism
199:45,X/46,XY mosaicism
2917:Intersex variations
2583:Follicular lymphoma
741:interfere with the
658:ovarian development
648:of Turner syndrome
639:embryonic divisions
549:gonadal development
352:signalling pathways
240:female hypogonadism
2822:Uniparental disomy
2817:Fragile X syndrome
2752:Myxoid liposarcoma
2604:t(11 CCND1:14 IGH)
2488:Trisomy X (47,XXX)
2366:genomic imprinting
2146:Distal trisomy 10q
909:10.1007/BF03034401
751:Foetal development
662:primary amenorrhea
654:haploinsufficiency
587:reproductive tract
539:Manifestations of
285:, and not develop
264:anterior pituitary
164:foetal development
93:on the developing
83:Gonadal dysgenesis
45:Gonadal dysgenesis
2884:
2883:
2836:Marker chromosome
2805:
2804:
2698:
2697:
2535:
2534:
2402:
2401:
2372:Angelman syndrome
2327:DiGeorge syndrome
2295:Jacobsen syndrome
2283:Williams syndrome
2059:
2058:
1928:Robert S (2010).
1879:Endocrine Reviews
1705:978-3-319-31971-1
1219:978-3-540-78355-8
1060:978-3-662-54254-5
840:
839:
801:
800:
668:, streak gonads,
617:Dysregulation in
332:male hypogonadism
80:
79:
71:Diagnostic method
39:Medical condition
16:(Redirected from
2934:
2827:XX male syndrome
2724:Synovial sarcoma
2601:Multiple myeloma
2569:Burkitt lymphoma
2559:
2546:
2449:other karyotypes
2418:
2200:Cat-eye syndrome
2106:
2086:
2079:
2072:
2063:
1998:
1986:
1985:
1949:
1938:
1937:
1925:
1919:
1918:
1911:
1905:
1904:
1894:
1870:
1861:
1860:
1842:
1831:
1830:
1823:
1812:
1811:
1783:
1762:
1761:
1733:
1718:
1717:
1683:
1670:
1669:
1667:
1654:
1648:
1647:
1645:
1643:
1634:. Archived from
1632:www.healthit.gov
1624:
1618:
1617:
1607:
1575:
1569:
1568:
1566:
1564:
1549:
1543:
1542:
1541:
1539:
1523:
1517:
1516:
1515:
1513:
1490:
1484:
1483:
1473:
1463:
1439:
1426:
1425:
1415:
1405:
1381:
1375:
1374:
1364:
1340:
1329:
1328:
1310:
1286:
1280:
1279:
1269:
1259:
1235:
1224:
1223:
1197:
1178:
1177:
1160:(1): 4075–4076.
1149:
1143:
1142:
1114:
1103:
1102:
1074:
1065:
1064:
1038:
1027:
1026:
1018:
991:
990:
983:
977:
976:
970:
966:
964:
956:
954:
920:
914:
913:
911:
887:
835:
832:
822:You can help by
815:
808:
796:
793:
783:You can help by
776:
769:
743:endocrine system
714:hearing problems
637:or during early
291:menstrual cycles
65:
64:
56:Medical genetics
42:
21:
2942:
2941:
2937:
2936:
2935:
2933:
2932:
2931:
2887:
2886:
2885:
2880:
2841:Ring chromosome
2801:
2694:
2627:
2531:
2447:
2434:
2398:
2211:
2110:
2095:
2090:
2060:
2055:
2054:
2009:
1995:
1990:
1989:
1951:
1950:
1941:
1927:
1926:
1922:
1913:
1912:
1908:
1872:
1871:
1864:
1857:
1844:
1843:
1834:
1825:
1824:
1815:
1785:
1784:
1765:
1735:
1734:
1721:
1706:
1685:
1684:
1673:
1665:
1656:
1655:
1651:
1641:
1639:
1626:
1625:
1621:
1577:
1576:
1572:
1562:
1560:
1551:
1550:
1546:
1537:
1535:
1525:
1524:
1520:
1511:
1509:
1492:
1491:
1487:
1441:
1440:
1429:
1383:
1382:
1378:
1342:
1341:
1332:
1288:
1287:
1283:
1237:
1236:
1227:
1220:
1199:
1198:
1181:
1151:
1150:
1146:
1116:
1115:
1106:
1076:
1075:
1068:
1061:
1040:
1039:
1030:
1020:
1019:
994:
985:
984:
980:
967:
957:
943:
922:
921:
917:
889:
888:
884:
879:
857:
845:
836:
830:
827:
806:
797:
791:
788:
767:
736:
730:
722:thyroid hormone
604:Turner syndrome
601:
599:Turner syndrome
595:
593:Turner syndrome
569:can occur from
560:masculinisation
556:dysgenic testis
519:X0/XY mosaicism
515:
509:
432:spermatogenesis
328:
322:
314:steroid hormone
233:
227:
222:
204:Turner syndrome
179:
59:
40:
37:
28:
23:
22:
15:
12:
11:
5:
2940:
2938:
2930:
2929:
2924:
2919:
2914:
2909:
2904:
2899:
2889:
2888:
2882:
2881:
2879:
2878:
2877:
2876:
2838:
2833:
2824:
2819:
2813:
2811:
2807:
2806:
2803:
2802:
2800:
2799:
2777:
2763:
2749:
2735:
2721:
2706:
2704:
2700:
2699:
2696:
2695:
2693:
2692:
2678:
2664:
2650:
2635:
2633:
2629:
2628:
2626:
2625:
2620:
2606:
2594:
2580:
2565:
2563:
2556:
2543:
2541:Translocations
2537:
2536:
2533:
2532:
2530:
2529:
2524:
2518:
2517:
2512:
2507:
2501:
2500:
2495:
2490:
2484:
2483:
2478:
2473:
2468:
2463:
2457:
2455:
2436:
2435:
2433:
2432:
2426:
2424:
2415:
2404:
2403:
2400:
2399:
2397:
2396:
2386:
2385:
2384:
2383:
2361:
2360:
2359:
2358:
2348:
2347:
2346:
2336:
2335:
2334:
2324:
2323:
2322:
2304:
2303:
2302:
2292:
2291:
2290:
2280:
2279:
2278:
2264:
2263:
2262:
2252:
2251:
2250:
2221:
2219:
2213:
2212:
2210:
2209:
2208:
2207:
2197:
2192:
2187:
2186:
2185:
2175:
2170:
2165:
2160:
2159:
2158:
2151:Patau syndrome
2148:
2143:
2138:
2133:
2128:
2123:
2117:
2115:
2103:
2097:
2096:
2091:
2089:
2088:
2081:
2074:
2066:
2057:
2056:
2053:
2052:
2041:
2026:
2010:
2005:
2004:
2002:
2001:Classification
1994:
1993:External links
1991:
1988:
1987:
1939:
1920:
1906:
1885:(1): 120–140.
1862:
1855:
1832:
1813:
1794:(3): 287–300.
1763:
1719:
1704:
1671:
1649:
1638:on 14 May 2023
1619:
1590:(6): 452–456.
1570:
1544:
1518:
1485:
1427:
1376:
1330:
1301:(6): 959–968.
1281:
1225:
1218:
1179:
1144:
1104:
1066:
1059:
1028:
992:
978:
969:|journal=
941:
915:
881:
880:
878:
875:
874:
873:
868:
863:
856:
853:
844:
841:
838:
837:
818:
816:
805:
802:
799:
798:
779:
777:
766:
763:
732:Main article:
729:
726:
627:nondisjunction
621:signalling to
597:Main article:
594:
591:
575:translocations
511:Main article:
508:
505:
493:ovarian stroma
482:MĂĽllerian duct
474:Wolffian ducts
324:Main article:
321:
318:
281:, not undergo
248:Streak ovaries
229:Main article:
226:
223:
221:
218:
217:
216:
211:
206:also known as
201:
192:
186:
178:
175:
99:fibrous tissue
78:
77:
73:
67:
66:
53:
47:
46:
38:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
2939:
2928:
2925:
2923:
2922:Rare diseases
2920:
2918:
2915:
2913:
2910:
2908:
2905:
2903:
2900:
2898:
2895:
2894:
2892:
2875:
2871:
2867:
2863:
2859:
2855:
2851:
2847:
2844:
2843:
2842:
2839:
2837:
2834:
2832:
2828:
2825:
2823:
2820:
2818:
2815:
2814:
2812:
2808:
2797:
2793:
2789:
2785:
2781:
2778:
2775:
2771:
2767:
2764:
2761:
2757:
2753:
2750:
2747:
2743:
2739:
2736:
2733:
2729:
2725:
2722:
2719:
2715:
2711:
2710:Ewing sarcoma
2708:
2707:
2705:
2701:
2690:
2686:
2682:
2679:
2676:
2672:
2668:
2665:
2662:
2658:
2654:
2651:
2648:
2644:
2640:
2637:
2636:
2634:
2630:
2624:
2621:
2618:
2614:
2610:
2607:
2605:
2602:
2598:
2595:
2592:
2588:
2584:
2581:
2578:
2574:
2570:
2567:
2566:
2564:
2560:
2557:
2555:
2551:
2547:
2544:
2542:
2538:
2528:
2525:
2523:
2520:
2519:
2516:
2513:
2511:
2508:
2506:
2503:
2502:
2499:
2496:
2494:
2491:
2489:
2486:
2485:
2482:
2479:
2477:
2474:
2472:
2469:
2467:
2464:
2462:
2459:
2458:
2456:
2454:
2450:
2445:
2441:
2437:
2431:
2428:
2427:
2425:
2423:
2419:
2416:
2413:
2409:
2405:
2395:
2394:Proximal 18q-
2391:
2388:
2387:
2381:
2377:
2373:
2370:
2369:
2368:
2367:
2363:
2362:
2357:
2354:
2353:
2352:
2349:
2345:
2342:
2341:
2340:
2337:
2333:
2330:
2329:
2328:
2325:
2321:
2318:
2317:
2316:
2312:
2308:
2305:
2301:
2298:
2297:
2296:
2293:
2289:
2286:
2285:
2284:
2281:
2277:
2274:
2273:
2272:
2268:
2265:
2261:
2258:
2257:
2256:
2253:
2249:
2246:
2245:
2243:
2239:
2235:
2231:
2227:
2223:
2222:
2220:
2218:
2214:
2206:
2203:
2202:
2201:
2198:
2196:
2193:
2191:
2188:
2184:
2181:
2180:
2179:
2178:Down syndrome
2176:
2174:
2171:
2169:
2166:
2164:
2161:
2157:
2154:
2153:
2152:
2149:
2147:
2144:
2142:
2139:
2137:
2134:
2132:
2129:
2127:
2124:
2122:
2119:
2118:
2116:
2114:
2109:Duplications,
2107:
2104:
2102:
2098:
2094:
2087:
2082:
2080:
2075:
2073:
2068:
2067:
2064:
2051:
2047:
2046:
2042:
2040:
2036:
2035:
2031:
2027:
2025:
2021:
2020:
2016:
2012:
2011:
2008:
2003:
1999:
1992:
1983:
1979:
1975:
1971:
1967:
1963:
1960:(4): 259–78.
1959:
1955:
1948:
1946:
1944:
1940:
1935:
1931:
1924:
1921:
1916:
1910:
1907:
1902:
1898:
1893:
1888:
1884:
1880:
1876:
1869:
1867:
1863:
1858:
1856:9780323315258
1852:
1848:
1841:
1839:
1837:
1833:
1828:
1822:
1820:
1818:
1814:
1809:
1805:
1801:
1797:
1793:
1789:
1782:
1780:
1778:
1776:
1774:
1772:
1770:
1768:
1764:
1759:
1755:
1751:
1747:
1743:
1739:
1732:
1730:
1728:
1726:
1724:
1720:
1715:
1711:
1707:
1701:
1697:
1693:
1689:
1682:
1680:
1678:
1676:
1672:
1664:
1662:
1653:
1650:
1637:
1633:
1629:
1623:
1620:
1615:
1611:
1606:
1601:
1597:
1593:
1589:
1585:
1581:
1574:
1571:
1559:
1555:
1548:
1545:
1533:
1529:
1522:
1519:
1508:
1504:
1500:
1496:
1489:
1486:
1481:
1477:
1472:
1467:
1462:
1457:
1453:
1449:
1445:
1438:
1436:
1434:
1432:
1428:
1423:
1419:
1414:
1409:
1404:
1399:
1395:
1391:
1387:
1380:
1377:
1372:
1368:
1363:
1358:
1354:
1350:
1346:
1339:
1337:
1335:
1331:
1326:
1322:
1318:
1314:
1309:
1304:
1300:
1296:
1292:
1285:
1282:
1277:
1273:
1268:
1263:
1258:
1253:
1249:
1245:
1241:
1234:
1232:
1230:
1226:
1221:
1215:
1211:
1207:
1203:
1196:
1194:
1192:
1190:
1188:
1186:
1184:
1180:
1175:
1171:
1167:
1163:
1159:
1155:
1148:
1145:
1140:
1136:
1132:
1128:
1124:
1120:
1113:
1111:
1109:
1105:
1100:
1096:
1092:
1088:
1084:
1080:
1073:
1071:
1067:
1062:
1056:
1052:
1048:
1044:
1037:
1035:
1033:
1029:
1024:
1017:
1015:
1013:
1011:
1009:
1007:
1005:
1003:
1001:
999:
997:
993:
988:
982:
979:
974:
962:
953:
948:
944:
942:9781416040903
938:
934:
930:
926:
919:
916:
910:
905:
901:
897:
893:
886:
883:
876:
872:
869:
867:
864:
862:
859:
858:
854:
852:
850:
842:
834:
825:
821:
817:
814:
810:
809:
803:
795:
786:
782:
778:
775:
771:
770:
764:
762:
760:
756:
752:
748:
744:
740:
735:
727:
725:
723:
719:
715:
711:
707:
706:heart defects
703:
702:Comorbidities
699:
696:features and
695:
691:
690:short stature
687:
683:
679:
675:
671:
667:
663:
659:
655:
651:
647:
642:
640:
636:
632:
628:
624:
620:
615:
613:
609:
605:
600:
592:
590:
588:
584:
583:cell division
580:
576:
572:
568:
563:
561:
557:
552:
550:
546:
542:
537:
534:
532:
528:
524:
520:
514:
506:
504:
502:
498:
494:
489:
487:
483:
479:
475:
470:
468:
464:
460:
455:
453:
449:
445:
441:
437:
433:
429:
425:
421:
416:
414:
410:
406:
402:
398:
396:
392:
388:
384:
380:
376:
372:
368:
364:
359:
358:development.
357:
353:
349:
345:
341:
340:embryogenesis
337:
333:
327:
319:
317:
315:
311:
307:
303:
299:
298:embryogenesis
294:
292:
288:
284:
280:
275:
273:
269:
265:
261:
257:
253:
249:
245:
241:
237:
232:
224:
219:
215:
212:
209:
205:
202:
200:
196:
193:
191:
187:
185:
181:
180:
176:
174:
172:
167:
165:
160:
158:
154:
150:
146:
145:morphological
142:
137:
135:
131:
127:
123:
118:
116:
112:
108:
104:
100:
96:
92:
88:
84:
74:
72:
68:
63:
57:
54:
52:
48:
43:
35:
30:
19:
2364:
2238:TAR syndrome
2141:Tetrasomy 9p
2043:
2028:
2013:
1957:
1953:
1933:
1923:
1909:
1882:
1878:
1846:
1791:
1787:
1741:
1737:
1687:
1660:
1652:
1640:. Retrieved
1636:the original
1631:
1622:
1587:
1583:
1573:
1561:. Retrieved
1557:
1547:
1536:, retrieved
1531:
1521:
1510:, retrieved
1498:
1488:
1451:
1447:
1393:
1389:
1379:
1352:
1348:
1298:
1294:
1284:
1247:
1243:
1201:
1157:
1153:
1147:
1122:
1118:
1082:
1078:
1042:
1022:
981:
924:
918:
902:(2): 95–97.
899:
895:
885:
849:Henry Turner
846:
828:
824:adding to it
819:
789:
785:adding to it
780:
737:
724:production.
643:
616:
612:X chromosome
602:
567:Y chromosome
564:
553:
538:
535:
527:Y chromosome
516:
500:
490:
471:
469:production.
463:testosterone
459:Sertoli cell
456:
417:
400:
399:
360:
329:
316:production.
302:FSH receptor
295:
276:
234:
220:Pathogenesis
168:
161:
138:
119:
82:
81:
29:
2527:46,XX/46,XY
2444:tetrasomies
2390:Distal 18q-
1125:: 124–137.
1025:. Springer.
1023:Neonatology
831:August 2017
792:August 2017
670:infertility
444:hypospadias
293:can occur.
149:biochemical
107:infertility
2891:Categories
2522:45,X/46,XY
2422:Monosomies
2195:Trisomy 22
2173:Trisomy 18
2163:Trisomy 16
2111:including
1454:(84): 84.
896:Andrologie
877:References
804:Management
720:, and low
700:at birth.
698:lymphedema
694:dysmorphic
686:phenotypic
631:monosomy X
623:germ cells
523:aneuploidy
495:absent of
338:46,XY. In
246:of 46,XX.
2440:Trisomies
2217:Deletions
2136:Trisomy 9
2131:Trisomy 8
2113:trisomies
2101:Autosomal
1744:: 77–83.
1202:Andrology
1085:: 57–58.
971:ignored (
961:cite book
866:Ovotestis
765:Diagnosis
650:phenotype
646:aetiology
579:migration
571:deletions
545:asymmetry
531:germ line
497:follicles
363:aetiology
336:karyotype
306:mutations
252:oestrogen
244:karyotype
171:aetiology
157:karyotype
153:phenotype
51:Specialty
34:Dysgenics
2907:Intersex
2562:Lymphoid
2554:lymphoma
2550:Leukemia
1982:20122694
1974:25105336
1901:11844747
1758:26526145
1714:27300185
1642:5 August
1614:10874632
1507:25905232
1499:Endotext
1480:21929773
1422:29378665
1396:(8): 8.
1371:16580399
1325:14748261
1276:27307783
1139:26410164
1099:26653403
855:See also
747:hormones
718:diabetes
704:include
440:hormones
413:In utero
409:SRY gene
283:menarche
260:feedback
258:with no
256:HPG axis
210:or 45,X0
134:testicle
2790:) t (1
2657:RUNX1T1
2632:Myeloid
2453:mosaics
2050:D006059
1605:1734388
1471:3182960
1413:5789682
1317:7553856
1267:4908721
1174:1909490
952:1491552
843:History
678:puberty
619:meiosis
533:cells.
501:de novo
395:scrotum
279:puberty
262:to the
242:with a
141:steroid
111:puberty
103:aplasia
76:history
2742:COL1A1
2414:linked
1980:
1972:
1899:
1853:
1808:480090
1806:
1756:
1712:
1702:
1612:
1602:
1563:27 May
1538:27 May
1512:27 May
1505:
1478:
1468:
1420:
1410:
1369:
1323:
1315:
1274:
1264:
1250:: 12.
1216:
1172:
1137:
1097:
1057:
949:
939:
710:vision
635:gamete
446:. The
381:, and
356:testis
177:Causes
95:gonads
58:
2810:Other
2796:FOXO1
2794:; 13
2788:FOXO1
2786:; 13
2772:; 22
2768:t(11
2758:; 16
2756:DDIT3
2754:t(12
2746:PDGFB
2740:t(17
2716:; 22
2712:t(11
2703:Other
2685:RBM15
2669:t(15
2661:RUNX1
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