51:
802:
763:
64:
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
2018:
2003:
2114:
1567:
Kusz, Kamila; Kotecki, Maciej; Wojda, Alina; Szarras-Czapnik, Maria; Latos-Bielenska, Anna; Warenik-Szymankiewicz, Alina; Ruszczynska-Wolska, Anna; Jaruzelska, Jadwiga (1 June 1999).
1106:
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".
2072:
840:
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.
2885:
2890:
488:. 46,XY gonadal dysgenesis can remain unsuspected until delayed pubertal development is observed. Approximately 15% of cases of 46,XY gonadal dysgenesis carry
849:
2641:
128:
Differentiation of the gonads requires a tightly regulated cascade of genetic, molecular and morphogenic events. At the formation of the developed gonad,
412:
1616:
450:
formation and testis differentiation. An absence in SRY causes SOX9 to not be expressed at the usual time or concentration, leading to a decreased
2065:
424:
1373:
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).
393:
298:
1692:
1206:
1047:
474:
1482:
Rey, Rodolfo; Josso, Nathalie; Racine, Chrystèle (2000), Feingold, Kenneth R.; Anawalt, Bradley; Blackman, Marc R.; Boyce, Alison (eds.),
2754:
1941:
Nistal M, Paniagua R, González-Peramato P, Reyes-Múgica M (2015). "Perspectives in
Pediatric Pathology, Chapter 5. Gonadal Dysgenesis".
2915:
2058:
1229:"46, XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing"
2744:
1843:
929:
525:
The degree of development of the male reproductive tract is determined by the ratio of germ line cells expressing the XY genotype.
473:
development and promotes the development of female genitalia, if anti-MĂĽllerian hormone is suppressed or the body is insensitive,
2327:
2726:
2669:
2259:
2900:
2720:
2659:
2597:
837:
654:
544:
436:
2214:
1542:
1375:"Identification of novel candidate genes for 46, XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model"
662:
275:
103:
2243:
2905:
2663:
2655:
2611:
2303:
2178:
2156:
747:
416:
256:
75:
2854:
2842:
2222:
2109:
114:
2299:
2295:
492:
mutations in the SRY gene, with an unknown causation for the remaining portion of 46,XY gonadal dysgenesis persons.
2601:
2364:
1189:
Nieschlag E, Behre H, Wieacker P, Meschede D, Kamischke A, Kliesch S (2010). "Disorders at the
Testicular Level".
2768:
2730:
2529:
1280:"Mutations in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure"
574:. The chromosomal loss results in partial expression of the SRY gene, giving rise to atypical development of the
563:
455:
404:, all fetuses are anatomically undifferentiated which are then differentiated via androgen's and SRY activation.
332:
266:
FSH and LH are secreted at elevated levels. Increased levels of these hormones will cause the body to not start
2218:
2033:
743:
529:
466:
183:
2784:
2776:
2762:
2748:
2706:
2627:
2339:
1647:
285:
46,XX gonadal dysgenesis can manifest from a variety of causes. Interruption during ovarian development in
2910:
2230:
2081:
596:
151:
Gonadal dysgenesis arises from a difference in signalling in this tightly regulated process during early
2858:
1624:
1278:
Aittomaki K, Lucena J, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila E (1995).
440:
314:
224:
219:
178:
172:
79:
2838:
2834:
1815:
419:, individuals are born with normal female genitalia, however, during puberty, male differentiation and
649:
requires these vital regions of the X chromosome that are inactivated. Clinical manifestation include
2585:
2510:
2449:
2255:
727:
722:
670:
501:
187:
133:
1725:
Bashamboo A, McElreavey K (2015). "Human sex-determination and disorders of sex-development (DSD)".
427:, or if genital development is blocked, undermasculization can also be induced by certain drugs and
411:
with testicles inside the body where the ovaries usually are, which is caused by conditions such as
109:
Gonadal development is a process, which is primarily controlled genetically by the chromosomal sex (
50:
2758:
2571:
2205:
2022:
627:
559:
537:
340:
260:
202:
1775:
Donahoe P, Crawford J, Hendren W (1979). "Mixed
Gonadal Dysgenesis, Pathogenesis and Management".
975:
477:
occurs when the individual has partial female reproductive, and partial male reproductive organs.
2862:
2850:
2846:
2810:
2805:
2740:
2354:
2134:
1966:
1309:
1030:
Pieretti RV, Donahoe PK (2018). "Pathogenesis and
Treatment of Disorders of Sexual Development".
949:
739:
650:
642:
575:
252:
152:
547:
can have an amount of functional tissue which can produce a level of testosterone, which causes
2895:
2824:
2441:
2360:
2315:
2283:
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1958:
1885:
1839:
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1742:
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1464:
1406:
1355:
1301:
1260:
1202:
1158:
1123:
1083:
1043:
925:
698:
510:
or partial gonadal dysgenesis, is a sex development difference associated with sex chromosome
470:
59:
39:
1569:"Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome"
540:
of testis and streak gonad, accounted for by the percentage of cells expressing XY genotype.
2819:
2815:
2712:
2589:
2557:
2188:
1950:
1903:
1875:
1784:
1734:
1680:
1675:
Biason-Lauber A (2006). "The Battle of the Sexes: Human Sex
Development and Its Disorders".
1588:
1580:
1454:
1444:
1396:
1386:
1345:
1291:
1250:
1240:
1194:
1150:
1115:
1075:
1035:
935:
917:
912:
Hughes I (2008). "The Testes: Disorders of Sexual
Differentiation and Puberty in the Male".
892:
731:
702:
485:
279:
44:
2829:
2418:
1433:"Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (Swyer Syndrome): a case report"
961:
710:
592:
587:
548:
507:
481:
420:
375:
302:
192:
1010:
Balsamo A, Buonocore G, Bracci R, Weindling M (2012). "Disorders of Sexual
Development".
2503:
2469:
2464:
2139:
1593:
1459:
1432:
1401:
1374:
1255:
1228:
940:
921:
645:, where a portion of critical genes are rendered inactive during embryogenesis. Normal
615:
567:
462:
371:
236:
87:
2027:
1788:
801:
762:
554:
Mixed gonadal dysgenesis is poorly understood at the molecular level. The loss of the
461:
Lowered levels of testosterone and anti-MĂĽllerian hormone disrupts the development of
2879:
2698:
2498:
2459:
2454:
2382:
2368:
2344:
2332:
2320:
2308:
2288:
2193:
2171:
2166:
2144:
1350:
1333:
1296:
1279:
694:
690:
678:
571:
328:
286:
110:
90:, termed streak gonads, instead of reproductive tissue. Streak gonads are a form of
1970:
1313:
603:, giving a chromosomal count of 45, instead of the typical count of 46 chromosomes.
2493:
2400:
2396:
2276:
2264:
2248:
2236:
2226:
2129:
600:
555:
515:
451:
447:
320:
290:
239:
are present with non-functional tissues unable to produce the required sex steroid
228:
1818:. Eunice Kennedy Shriver National Institute of Health and Human Development. 2012.
2038:
1904:"Endocrine Disruptors, National Institute of Environmental Health Sciences, 2013"
1738:
1684:
1198:
1141:
Quayle S, Copeland K (1991). "46, XX Gonadal
Dysgenesis With Epibulbar Dermoid".
1119:
1079:
1039:
86:
of an embryo. One type of gonadal dysgenesis is the development of functionless,
2515:
2486:
2481:
2378:
1679:. Results and Problems in Cell Differentiation. Vol. 58. pp. 337–382.
1650:
Progress and
Politics in the intersex rights movement, Feminist theory in action
658:
432:
379:
137:
95:
1483:
439:
with ambiguous genitalia to a binary sex for cosmetic purposes is considered a
2635:
2631:
2437:
2183:
2161:
2151:
2012:
1516:
1391:
1245:
686:
682:
674:
619:
611:
511:
367:
1918:
836:
Turner syndrome was first described independently by Otto Ulrich in 1930 and
278:. If ovarian tissue is present and produces some amount of hormones, limited
2476:
2432:
2124:
2119:
1954:
1154:
854:
638:
634:
533:
519:
469:. The absence of the steroid hormones commonly associated with males drives
351:
324:
294:
240:
232:
159:
145:
141:
22:
2050:
1962:
1889:
1880:
1863:
1746:
1702:
1602:
1495:
1468:
1449:
1410:
1359:
1264:
1127:
1087:
1305:
1162:
2592:
2542:
2538:
2410:
2089:
1796:
1584:
738:. Hormones are critical for the common events in embryogenesis to occur.
735:
706:
423:
occurs. Partial genital undermasculinization can occur if the body has a
401:
397:
271:
248:
244:
122:
1995:
2645:
2428:
2101:
1568:
897:
880:
666:
607:
431:. The overall intensity of undermasculinization can manifest itself in
428:
383:
267:
129:
99:
94:, resulting in hormonal failure that manifests as sexual infantism and
91:
2007:
623:
344:
1857:
1855:
1829:
1827:
1825:
1810:
1808:
1806:
1770:
1768:
1766:
1764:
1762:
1760:
1758:
1756:
1720:
1718:
1716:
1714:
1712:
1670:
1668:
1666:
1664:
1426:
1424:
1422:
1420:
1327:
1325:
1323:
1222:
1220:
1218:
1066:
Boizet-Bonhoure B (2015). "Development and
Pathology of the Gonad".
665:. Turner syndrome is usually not diagnosed until a delayed onset of
374:. If a single or combination of these genes are mutated or deleted,
331:, the development of the male gonads is primarily controlled by the
1005:
622:
from not occurred separation of chromosomes in either the parental
2734:
2673:
2649:
2579:
1227:
Grimbly C, Caluseriu O, Metcalfe P, Jetha M, Rosolowsky E (2016).
1184:
1182:
1180:
1178:
1176:
1174:
1172:
1101:
1099:
1097:
1061:
1059:
1025:
1023:
1021:
1003:
1001:
999:
997:
995:
993:
991:
989:
987:
985:
859:
646:
408:
355:
118:
83:
1677:
Molecular Mechanisms of Cell Differentiation in Gonad Development
2780:
2772:
2716:
2702:
2677:
2605:
2575:
2565:
359:
289:
can cause 46,XX gonadal dysgenesis with cases of changes in the
196:
132:
production influences local and distant receptors for continued
2054:
2561:
1334:"Pure XY gonadal dysgenesis and agenesis in monozygotic twins"
796:
757:
480:
Gonadal streaks can replace the tissues of testes, resembling
363:
354:
of 46,XY gonadal dysgenesis can be caused by mutations in the
336:
916:. Vol. 135. Elsevier Health Sciences. pp. 662–685.
742:
relies on the proper timing of the delivery of hormones for
76:
congenital developmental disorder of the reproductive system
1543:"Embryos aren't female by 'default' after all, study shows"
335:
located on the sex-determining region of the Y chromosome (
518:. Mixed gonadal dysgenesis is the presence of two or more
158:
Manifestations of gonadal dysgenesis are dependent on the
599:
characterised by a partial or completely missing second
812:
773:
407:
Full undermasculinization results in a fully developed
1919:"Pesticide atrazine can turn male frogs into females"
881:"Andrology: Male Reproductive Health and Dysfunction"
1985:
2798:
2691:
2620:
2550:
2537:
2528:
2427:
2409:
2395:
2204:
2097:
2088:
1989:
976:"Gonadal Streak. Farlex Partner Medical Dictionary"
58:
38:
33:
1431:Han Y, Wang Y, Li Q, Dai S, He A, Wang E (2011).
1332:Chen H, Huang H, Chang T, Lai C, Soong Y (2006).
1233:International Journal of Pediatric Endocrinology
1936:
1934:
1932:
1862:Elsheikh M, Dunger D, Conway G, Wass J (2002).
343:initiated to several other genes to facilitate
1834:Saenger P, Bondy A (2014). "Turner Syndrome".
392:is the technical term for partial of complete
339:). The male gonad is dependent on SRY and the
319:46,XY gonadal dysgenesis is characteristic of
186:also known as partial gonadal dysgenesis, and
16:Congenital disorder of the reproductive system
2820:46,XX testicular disorders of sex development
2066:
117:), which directs the formation of the gonad (
8:
1727:Seminars in Cell & Developmental Biology
1108:Seminars in Cell & Developmental Biology
1068:Seminars in Cell & Developmental Biology
850:(DoDI) 6130.03, 2018, section 5, 13f and 14m
358:involved in testis development such as SRY,
177:Pure gonadal dysgenesis 46,XY also known as
171:Pure gonadal dysgenesis 46,XX also known as
2642:Acute myeloblastic leukemia with maturation
2547:
2534:
2406:
2094:
2073:
2059:
2051:
1986:
1517:"Chromosomal Sex Determination in Mammals"
1490:, South Dartmouth (MA): MDText.com, Inc.,
49:
30:
1879:
1592:
1458:
1448:
1400:
1390:
1349:
1295:
1254:
1244:
939:
896:
673:found to be in infantile stage. Physical
570:diffenernce of paired chromosomes during
148:(46,XX for females and 46,XY for males).
2886:Congenital disorders of endocrine system
1816:"Turner Syndrome: Condition Information"
506:Mixed gonadal dysgenesis, also known as
413:complete androgen insensitivity syndrome
1923:Berkeley News, University of California
1541:Digital, G. L. P. (21 September 2017).
871:
465:and internal genitalia that are key to
162:and severity of the underlying causes.
78:characterized by a progressive loss of
2891:Congenital disorders of genital organs
957:
947:
746:and maturation. Disruptions can cause
299:steroidogenic acute regulatory protein
243:. Low levels of oestrogen effect the
7:
1143:American Journal of Medical Genetics
595:, also known as 45,X or 45,X0, is a
2755:Desmoplastic small-round-cell tumor
1646:Alice D. Dreger; April M. Herndon.
614:during embryogenesis may result in
467:male reproductive tract development
446:SRY acts on gene SOX9 which drives
1838:(4th ed.). pp. 664–696.
1617:"Variation in Sex Characteristics"
1521:Developmental Biology. 6th edition
922:10.1016/B978-1-4160-4090-3.X5001-7
475:persistent MĂĽllerian duct syndrome
378:is disrupted, leading to atypical
14:
2328:22q11.2 distal deletion syndrome
1351:10.1016/j.fertnstert.2005.09.054
800:
761:
2727:Dermatofibrosarcoma protuberans
2670:Acute megakaryoblastic leukemia
2598:Anaplastic large-cell lymphoma
2260:Chromosome 5q deletion syndrome
1864:"Turners Syndrome in adulthood"
750:leading to gonadal dysgenesis.
437:surgical assignment of newborns
425:partial resistance to androgens
301:(StAR protein) which regulates
1193:. Springer. pp. 193–238.
1034:. Springer. pp. 241–270.
655:hypergonadotropic hypogonadism
1:
2450:Klinefelter syndrome (47,XXY)
2215:1q21.1 copy number variations
1789:10.1016/s0022-3468(79)80486-8
1032:Endocrine Surgery in Children
879:Carreau S, Lejeune H (2001).
663:secondary sex characteristics
276:secondary sex characteristics
140:changes. This results in the
104:secondary sex characteristics
2656:Acute promyelocytic leukemia
2612:Acute lymphoblastic leukemia
2304:17q12 microdeletion syndrome
2179:22q11.2 duplication syndrome
2157:16p11.2 duplication syndrome
1777:Journal of Pediatric Surgery
1739:10.1016/j.semcdb.2015.10.030
1685:10.1007/978-3-319-31973-5_13
1297:10.1016/0092-8674(95)90275-9
1199:10.1007/978-3-540-78355-8_13
1120:10.1016/j.semcdb.2015.09.013
1080:10.1016/j.semcdb.2015.11.009
1040:10.1007/978-3-662-54256-9_18
748:sexual development disorders
578:and altered hormone levels.
390:Genital Undermasculinization
255:to inhibit the secretion of
2223:1q21.1 duplication syndrome
2110:1q21.1 duplication syndrome
1573:Journal of Medical Genetics
394:undifferentiated genitallia
2932:
1515:Gilbert, Scott F. (2000),
1379:Biology of Sex Differences
720:
585:
499:
312:
217:
20:
2916:Sex differences in humans
2769:Alveolar rhabdomyosarcoma
2504:XYYYY syndrome (49,XYYYY)
2470:XXXXY syndrome (49,XXXXY)
2465:XXXYY syndrome (49,XXXYY)
1392:10.1186/s13293-018-0167-9
1246:10.1186/s13633-016-0030-x
661:, and failure to develop
532:are highly variable with
417:5α-Reductase 2 deficiency
333:testis determining factor
2244:Wolf–Hirschhorn syndrome
2219:1q21.1 deletion syndrome
2082:Chromosome abnormalities
1605:– via jmg.bmj.com.
1547:Genetic Literacy Project
1484:"Sexual Differentiation"
744:cellular differentiation
677:characteristics include
530:mixed gonadal dysgenesis
496:Mixed gonadal dysgenesis
309:46,XY gonadal dysgenesis
225:46,XX gonadal dysgenesis
214:46,XX gonadal dysgenesis
184:Mixed gonadal dysgenesis
98:, with no initiation of
21:Not to be confused with
2628:Philadelphia chromosome
2499:XYYY syndrome (48,XYYY)
2460:XXXY syndrome (48,XXXY)
2455:XXYY syndrome (48,XXYY)
2340:22q13 deletion syndrome
2115:2q31.1 microduplication
1955:10.2350/14-04-1471-PB.1
1836:Pediatric Endocrinology
1338:Fertility and Sterility
1155:10.1002/ajmg.1320400114
914:Pediatric Endocrinology
597:chromosomal abnormality
396:in individuals with an
2487:Pentasomy X (49,XXXXX)
2419:Turner syndrome (45,X)
2300:Smith–Magenis syndrome
2296:Miller–Dieker syndrome
2231:1p36 deletion syndrome
1881:10.1210/edrv.23.1.0457
1450:10.1186/1746-1596-6-84
809:This section is empty.
770:This section is empty.
456:anti-MĂĽllerian hormone
441:human rights violation
2901:Intersex and medicine
2494:XYY syndrome (47,XYY)
2482:Tetrasomy X (48,XXXX)
2365:Prader–Willi syndrome
1344:(4): 1059.9–1059.11.
717:Endocrine disruptions
641:can be the result of
514:and mosaicism of the
376:downstream signalling
315:XY gonadal dysgenesis
227:is characteristic of
220:XX gonadal dysgenesis
203:Endocrine disruptions
179:XY gonadal dysgenesis
173:XX gonadal dysgenesis
144:corresponding to the
80:primordial germ cells
74:is classified as any
2586:Mantle cell lymphoma
2256:Cri du chat syndrome
1943:Pediatr. Dev. Pathol
1585:10.1136/jmg.36.6.452
1523:, Sinauer Associates
1437:Diagnostic Pathology
728:Endocrine disruptors
723:Endocrine disruptors
671:MĂĽllerian structures
502:45,X/46,XY mosaicism
188:45,X/46,XY mosaicism
2906:Intersex variations
2572:Follicular lymphoma
730:interfere with the
647:ovarian development
637:of Turner syndrome
628:embryonic divisions
538:gonadal development
341:signalling pathways
229:female hypogonadism
2811:Uniparental disomy
2806:Fragile X syndrome
2741:Myxoid liposarcoma
2593:t(11 CCND1:14 IGH)
2477:Trisomy X (47,XXX)
2355:genomic imprinting
2135:Distal trisomy 10q
898:10.1007/BF03034401
740:Foetal development
651:primary amenorrhea
643:haploinsufficiency
576:reproductive tract
528:Manifestations of
274:, and not develop
253:anterior pituitary
153:foetal development
82:on the developing
72:Gonadal dysgenesis
34:Gonadal dysgenesis
2873:
2872:
2825:Marker chromosome
2794:
2793:
2687:
2686:
2524:
2523:
2391:
2390:
2361:Angelman syndrome
2316:DiGeorge syndrome
2284:Jacobsen syndrome
2272:Williams syndrome
2048:
2047:
1917:Robert S (2010).
1868:Endocrine Reviews
1694:978-3-319-31971-1
1208:978-3-540-78355-8
1049:978-3-662-54254-5
829:
828:
790:
789:
657:, streak gonads,
606:Dysregulation in
321:male hypogonadism
69:
68:
60:Diagnostic method
28:Medical condition
2923:
2816:XX male syndrome
2713:Synovial sarcoma
2590:Multiple myeloma
2558:Burkitt lymphoma
2548:
2535:
2438:other karyotypes
2407:
2189:Cat-eye syndrome
2095:
2075:
2068:
2061:
2052:
1987:
1975:
1974:
1938:
1927:
1926:
1914:
1908:
1907:
1900:
1894:
1893:
1883:
1859:
1850:
1849:
1831:
1820:
1819:
1812:
1801:
1800:
1772:
1751:
1750:
1722:
1707:
1706:
1672:
1659:
1658:
1656:
1643:
1637:
1636:
1634:
1632:
1623:. Archived from
1621:www.healthit.gov
1613:
1607:
1606:
1596:
1564:
1558:
1557:
1555:
1553:
1538:
1532:
1531:
1530:
1528:
1512:
1506:
1505:
1504:
1502:
1479:
1473:
1472:
1462:
1452:
1428:
1415:
1414:
1404:
1394:
1370:
1364:
1363:
1353:
1329:
1318:
1317:
1299:
1275:
1269:
1268:
1258:
1248:
1224:
1213:
1212:
1186:
1167:
1166:
1149:(1): 4075–4076.
1138:
1132:
1131:
1103:
1092:
1091:
1063:
1054:
1053:
1027:
1016:
1015:
1007:
980:
979:
972:
966:
965:
959:
955:
953:
945:
943:
909:
903:
902:
900:
876:
824:
821:
811:You can help by
804:
797:
785:
782:
772:You can help by
765:
758:
732:endocrine system
703:hearing problems
626:or during early
280:menstrual cycles
54:
53:
45:Medical genetics
31:
2931:
2930:
2926:
2925:
2924:
2922:
2921:
2920:
2876:
2875:
2874:
2869:
2830:Ring chromosome
2790:
2683:
2616:
2520:
2436:
2423:
2387:
2200:
2099:
2084:
2079:
2049:
2044:
2043:
1998:
1984:
1979:
1978:
1940:
1939:
1930:
1916:
1915:
1911:
1902:
1901:
1897:
1861:
1860:
1853:
1846:
1833:
1832:
1823:
1814:
1813:
1804:
1774:
1773:
1754:
1724:
1723:
1710:
1695:
1674:
1673:
1662:
1654:
1645:
1644:
1640:
1630:
1628:
1615:
1614:
1610:
1566:
1565:
1561:
1551:
1549:
1540:
1539:
1535:
1526:
1524:
1514:
1513:
1509:
1500:
1498:
1481:
1480:
1476:
1430:
1429:
1418:
1372:
1371:
1367:
1331:
1330:
1321:
1277:
1276:
1272:
1226:
1225:
1216:
1209:
1188:
1187:
1170:
1140:
1139:
1135:
1105:
1104:
1095:
1065:
1064:
1057:
1050:
1029:
1028:
1019:
1009:
1008:
983:
974:
973:
969:
956:
946:
932:
911:
910:
906:
878:
877:
873:
868:
846:
834:
825:
819:
816:
795:
786:
780:
777:
756:
725:
719:
711:thyroid hormone
593:Turner syndrome
590:
588:Turner syndrome
584:
582:Turner syndrome
558:can occur from
549:masculinisation
545:dysgenic testis
508:X0/XY mosaicism
504:
498:
421:spermatogenesis
317:
311:
303:steroid hormone
222:
216:
211:
193:Turner syndrome
168:
48:
29:
26:
17:
12:
11:
5:
2929:
2927:
2919:
2918:
2913:
2908:
2903:
2898:
2893:
2888:
2878:
2877:
2871:
2870:
2868:
2867:
2866:
2865:
2827:
2822:
2813:
2808:
2802:
2800:
2796:
2795:
2792:
2791:
2789:
2788:
2766:
2752:
2738:
2724:
2710:
2695:
2693:
2689:
2688:
2685:
2684:
2682:
2681:
2667:
2653:
2639:
2624:
2622:
2618:
2617:
2615:
2614:
2609:
2595:
2583:
2569:
2554:
2552:
2545:
2532:
2530:Translocations
2526:
2525:
2522:
2521:
2519:
2518:
2513:
2507:
2506:
2501:
2496:
2490:
2489:
2484:
2479:
2473:
2472:
2467:
2462:
2457:
2452:
2446:
2444:
2425:
2424:
2422:
2421:
2415:
2413:
2404:
2393:
2392:
2389:
2388:
2386:
2385:
2375:
2374:
2373:
2372:
2350:
2349:
2348:
2347:
2337:
2336:
2335:
2325:
2324:
2323:
2313:
2312:
2311:
2293:
2292:
2291:
2281:
2280:
2279:
2269:
2268:
2267:
2253:
2252:
2251:
2241:
2240:
2239:
2210:
2208:
2202:
2201:
2199:
2198:
2197:
2196:
2186:
2181:
2176:
2175:
2174:
2164:
2159:
2154:
2149:
2148:
2147:
2140:Patau syndrome
2137:
2132:
2127:
2122:
2117:
2112:
2106:
2104:
2092:
2086:
2085:
2080:
2078:
2077:
2070:
2063:
2055:
2046:
2045:
2042:
2041:
2030:
2015:
1999:
1994:
1993:
1991:
1990:Classification
1983:
1982:External links
1980:
1977:
1976:
1928:
1909:
1895:
1874:(1): 120–140.
1851:
1844:
1821:
1802:
1783:(3): 287–300.
1752:
1708:
1693:
1660:
1638:
1627:on 14 May 2023
1608:
1579:(6): 452–456.
1559:
1533:
1507:
1474:
1416:
1365:
1319:
1290:(6): 959–968.
1270:
1214:
1207:
1168:
1133:
1093:
1055:
1048:
1017:
981:
967:
958:|journal=
930:
904:
870:
869:
867:
864:
863:
862:
857:
852:
845:
842:
833:
830:
827:
826:
807:
805:
794:
791:
788:
787:
768:
766:
755:
752:
721:Main article:
718:
715:
616:nondisjunction
610:signalling to
586:Main article:
583:
580:
564:translocations
500:Main article:
497:
494:
482:ovarian stroma
471:MĂĽllerian duct
463:Wolffian ducts
313:Main article:
310:
307:
270:, not undergo
237:Streak ovaries
218:Main article:
215:
212:
210:
207:
206:
205:
200:
195:also known as
190:
181:
175:
167:
164:
88:fibrous tissue
67:
66:
62:
56:
55:
42:
36:
35:
27:
15:
13:
10:
9:
6:
4:
3:
2:
2928:
2917:
2914:
2912:
2911:Rare diseases
2909:
2907:
2904:
2902:
2899:
2897:
2894:
2892:
2889:
2887:
2884:
2883:
2881:
2864:
2860:
2856:
2852:
2848:
2844:
2840:
2836:
2833:
2832:
2831:
2828:
2826:
2823:
2821:
2817:
2814:
2812:
2809:
2807:
2804:
2803:
2801:
2797:
2786:
2782:
2778:
2774:
2770:
2767:
2764:
2760:
2756:
2753:
2750:
2746:
2742:
2739:
2736:
2732:
2728:
2725:
2722:
2718:
2714:
2711:
2708:
2704:
2700:
2699:Ewing sarcoma
2697:
2696:
2694:
2690:
2679:
2675:
2671:
2668:
2665:
2661:
2657:
2654:
2651:
2647:
2643:
2640:
2637:
2633:
2629:
2626:
2625:
2623:
2619:
2613:
2610:
2607:
2603:
2599:
2596:
2594:
2591:
2587:
2584:
2581:
2577:
2573:
2570:
2567:
2563:
2559:
2556:
2555:
2553:
2549:
2546:
2544:
2540:
2536:
2533:
2531:
2527:
2517:
2514:
2512:
2509:
2508:
2505:
2502:
2500:
2497:
2495:
2492:
2491:
2488:
2485:
2483:
2480:
2478:
2475:
2474:
2471:
2468:
2466:
2463:
2461:
2458:
2456:
2453:
2451:
2448:
2447:
2445:
2443:
2439:
2434:
2430:
2426:
2420:
2417:
2416:
2414:
2412:
2408:
2405:
2402:
2398:
2394:
2384:
2383:Proximal 18q-
2380:
2377:
2376:
2370:
2366:
2362:
2359:
2358:
2357:
2356:
2352:
2351:
2346:
2343:
2342:
2341:
2338:
2334:
2331:
2330:
2329:
2326:
2322:
2319:
2318:
2317:
2314:
2310:
2307:
2306:
2305:
2301:
2297:
2294:
2290:
2287:
2286:
2285:
2282:
2278:
2275:
2274:
2273:
2270:
2266:
2263:
2262:
2261:
2257:
2254:
2250:
2247:
2246:
2245:
2242:
2238:
2235:
2234:
2232:
2228:
2224:
2220:
2216:
2212:
2211:
2209:
2207:
2203:
2195:
2192:
2191:
2190:
2187:
2185:
2182:
2180:
2177:
2173:
2170:
2169:
2168:
2167:Down syndrome
2165:
2163:
2160:
2158:
2155:
2153:
2150:
2146:
2143:
2142:
2141:
2138:
2136:
2133:
2131:
2128:
2126:
2123:
2121:
2118:
2116:
2113:
2111:
2108:
2107:
2105:
2103:
2098:Duplications,
2096:
2093:
2091:
2087:
2083:
2076:
2071:
2069:
2064:
2062:
2057:
2056:
2053:
2040:
2036:
2035:
2031:
2029:
2025:
2024:
2020:
2016:
2014:
2010:
2009:
2005:
2001:
2000:
1997:
1992:
1988:
1981:
1972:
1968:
1964:
1960:
1956:
1952:
1949:(4): 259–78.
1948:
1944:
1937:
1935:
1933:
1929:
1924:
1920:
1913:
1910:
1905:
1899:
1896:
1891:
1887:
1882:
1877:
1873:
1869:
1865:
1858:
1856:
1852:
1847:
1845:9780323315258
1841:
1837:
1830:
1828:
1826:
1822:
1817:
1811:
1809:
1807:
1803:
1798:
1794:
1790:
1786:
1782:
1778:
1771:
1769:
1767:
1765:
1763:
1761:
1759:
1757:
1753:
1748:
1744:
1740:
1736:
1732:
1728:
1721:
1719:
1717:
1715:
1713:
1709:
1704:
1700:
1696:
1690:
1686:
1682:
1678:
1671:
1669:
1667:
1665:
1661:
1653:
1651:
1642:
1639:
1626:
1622:
1618:
1612:
1609:
1604:
1600:
1595:
1590:
1586:
1582:
1578:
1574:
1570:
1563:
1560:
1548:
1544:
1537:
1534:
1522:
1518:
1511:
1508:
1497:
1493:
1489:
1485:
1478:
1475:
1470:
1466:
1461:
1456:
1451:
1446:
1442:
1438:
1434:
1427:
1425:
1423:
1421:
1417:
1412:
1408:
1403:
1398:
1393:
1388:
1384:
1380:
1376:
1369:
1366:
1361:
1357:
1352:
1347:
1343:
1339:
1335:
1328:
1326:
1324:
1320:
1315:
1311:
1307:
1303:
1298:
1293:
1289:
1285:
1281:
1274:
1271:
1266:
1262:
1257:
1252:
1247:
1242:
1238:
1234:
1230:
1223:
1221:
1219:
1215:
1210:
1204:
1200:
1196:
1192:
1185:
1183:
1181:
1179:
1177:
1175:
1173:
1169:
1164:
1160:
1156:
1152:
1148:
1144:
1137:
1134:
1129:
1125:
1121:
1117:
1113:
1109:
1102:
1100:
1098:
1094:
1089:
1085:
1081:
1077:
1073:
1069:
1062:
1060:
1056:
1051:
1045:
1041:
1037:
1033:
1026:
1024:
1022:
1018:
1013:
1006:
1004:
1002:
1000:
998:
996:
994:
992:
990:
988:
986:
982:
977:
971:
968:
963:
951:
942:
937:
933:
931:9781416040903
927:
923:
919:
915:
908:
905:
899:
894:
890:
886:
882:
875:
872:
865:
861:
858:
856:
853:
851:
848:
847:
843:
841:
839:
831:
823:
814:
810:
806:
803:
799:
798:
792:
784:
775:
771:
767:
764:
760:
759:
753:
751:
749:
745:
741:
737:
733:
729:
724:
716:
714:
712:
708:
704:
700:
696:
695:heart defects
692:
691:Comorbidities
688:
685:features and
684:
680:
679:short stature
676:
672:
668:
664:
660:
656:
652:
648:
644:
640:
636:
631:
629:
625:
621:
617:
613:
609:
604:
602:
598:
594:
589:
581:
579:
577:
573:
572:cell division
569:
565:
561:
557:
552:
550:
546:
541:
539:
535:
531:
526:
523:
521:
517:
513:
509:
503:
495:
493:
491:
487:
483:
478:
476:
472:
468:
464:
459:
457:
453:
449:
444:
442:
438:
434:
430:
426:
422:
418:
414:
410:
405:
403:
399:
395:
391:
387:
385:
381:
377:
373:
369:
365:
361:
357:
353:
348:
347:development.
346:
342:
338:
334:
330:
329:embryogenesis
326:
322:
316:
308:
306:
304:
300:
296:
292:
288:
287:embryogenesis
283:
281:
277:
273:
269:
264:
262:
258:
254:
250:
246:
242:
238:
234:
230:
226:
221:
213:
208:
204:
201:
198:
194:
191:
189:
185:
182:
180:
176:
174:
170:
169:
165:
163:
161:
156:
154:
149:
147:
143:
139:
135:
134:morphological
131:
126:
124:
120:
116:
112:
107:
105:
101:
97:
93:
89:
85:
81:
77:
73:
63:
61:
57:
52:
46:
43:
41:
37:
32:
24:
19:
2353:
2227:TAR syndrome
2130:Tetrasomy 9p
2032:
2017:
2002:
1946:
1942:
1922:
1912:
1898:
1871:
1867:
1835:
1780:
1776:
1730:
1726:
1676:
1649:
1641:
1629:. Retrieved
1625:the original
1620:
1611:
1576:
1572:
1562:
1550:. Retrieved
1546:
1536:
1525:, retrieved
1520:
1510:
1499:, retrieved
1487:
1477:
1440:
1436:
1382:
1378:
1368:
1341:
1337:
1287:
1283:
1273:
1236:
1232:
1190:
1146:
1142:
1136:
1111:
1107:
1071:
1067:
1031:
1011:
970:
913:
907:
891:(2): 95–97.
888:
884:
874:
838:Henry Turner
835:
817:
813:adding to it
808:
778:
774:adding to it
769:
726:
713:production.
632:
605:
601:X chromosome
591:
556:Y chromosome
553:
542:
527:
524:
516:Y chromosome
505:
489:
479:
460:
458:production.
452:testosterone
448:Sertoli cell
445:
406:
389:
388:
349:
318:
305:production.
291:FSH receptor
284:
265:
223:
209:Pathogenesis
157:
150:
127:
108:
71:
70:
18:
2516:46,XX/46,XY
2433:tetrasomies
2379:Distal 18q-
1114:: 124–137.
1014:. Springer.
1012:Neonatology
820:August 2017
781:August 2017
659:infertility
433:hypospadias
282:can occur.
138:biochemical
96:infertility
2880:Categories
2511:45,X/46,XY
2411:Monosomies
2184:Trisomy 22
2162:Trisomy 18
2152:Trisomy 16
2100:including
1443:(84): 84.
885:Andrologie
866:References
793:Management
709:, and low
689:at birth.
687:lymphedema
683:dysmorphic
675:phenotypic
620:monosomy X
612:germ cells
512:aneuploidy
484:absent of
327:46,XY. In
235:of 46,XX.
2429:Trisomies
2206:Deletions
2125:Trisomy 9
2120:Trisomy 8
2102:trisomies
2090:Autosomal
1733:: 77–83.
1191:Andrology
1074:: 57–58.
960:ignored (
950:cite book
855:Ovotestis
754:Diagnosis
639:phenotype
635:aetiology
568:migration
560:deletions
534:asymmetry
520:germ line
486:follicles
352:aetiology
325:karyotype
295:mutations
241:oestrogen
233:karyotype
160:aetiology
146:karyotype
142:phenotype
40:Specialty
23:Dysgenics
2896:Intersex
2551:Lymphoid
2543:lymphoma
2539:Leukemia
1971:20122694
1963:25105336
1890:11844747
1747:26526145
1703:27300185
1631:5 August
1603:10874632
1496:25905232
1488:Endotext
1469:21929773
1411:29378665
1385:(8): 8.
1360:16580399
1314:14748261
1265:27307783
1128:26410164
1088:26653403
844:See also
736:hormones
707:diabetes
693:include
429:hormones
402:In utero
398:SRY gene
272:menarche
249:feedback
247:with no
245:HPG axis
199:or 45,X0
123:testicle
2779:) t (1
2646:RUNX1T1
2621:Myeloid
2442:mosaics
2039:D006059
1594:1734388
1460:3182960
1402:5789682
1306:7553856
1256:4908721
1163:1909490
941:1491552
832:History
667:puberty
608:meiosis
522:cells.
490:de novo
384:scrotum
268:puberty
251:to the
231:with a
130:steroid
100:puberty
92:aplasia
65:history
2731:COL1A1
2403:linked
1969:
1961:
1888:
1842:
1797:480090
1795:
1745:
1701:
1691:
1601:
1591:
1552:27 May
1527:27 May
1501:27 May
1494:
1467:
1457:
1409:
1399:
1358:
1312:
1304:
1263:
1253:
1239:: 12.
1205:
1161:
1126:
1086:
1046:
938:
928:
699:vision
624:gamete
435:. The
370:, and
345:testis
166:Causes
84:gonads
47:
2799:Other
2785:FOXO1
2783:; 13
2777:FOXO1
2775:; 13
2761:; 22
2757:t(11
2747:; 16
2745:DDIT3
2743:t(12
2735:PDGFB
2729:t(17
2705:; 22
2701:t(11
2692:Other
2674:RBM15
2658:t(15
2650:RUNX1
2634:; 22
2574:t(14
2028:758.6
2013:Q99.1
1967:S2CID
1655:(PDF)
1310:S2CID
860:46 XX
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