1148:
1114:
51:
231:
1304:
257:
which results in the insufficient formation of dihydrotestosterone during fetal development. During the expected time of puberty, there is an increase in plasma luteinizing hormone and, consequently, in the testicular secretion of androstenedione. This leads to a clinically important higher ratio of
318:
Hewitt and Warne state that, children with 17β-hydroxysteroid dehydrogenase III deficiency who are raised as girls often later identify as male, describing a "well known, spontaneous change of gender identity from female to male" that "occurs after the onset of puberty." A 2005 systematic review of
299:
The 2006 Consensus statement on the management of intersex disorders states that individuals with 17β-hydroxysteroid dehydrogenase III deficiency have an intermediate risk of germ cell malignancy, at 28%, recommending that gonads be monitored. A 2010 review put the risk of germ cell tumors at 17%.
678:
Mendonca, Berenice B.; Gomes, Nathalia Lisboa; Costa, Elaine M.F.; Inacio, Marlene; Martin, Regina M.; Nishi, Mirian Y.; Carvalho, Filomena Marino; Tibor, Francisco Denes; Domenice, Sorahia (January 2017). "46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3
327:
Modification of children's sex characteristics to meet social and medical norms is strongly contested, with numerous statements by civil society organizations and human rights institutions condemning such interventions, including describing them as harmful practices.
1740:
1681:
1382:
1367:
1352:
346:
was widely reported in national, and international media. The judge ruled that parents were able to authorize the sterilization of their 5-year-old child reported only as "Carla". The child had previously been subjected to
1171:
1513:
1719:
1671:
1666:
44:
17 alpha ketosteroid reductase deficiency of testis, 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency, 17-ketoreductase deficiency, 17-ketosteroidreductase deficiency.
1140:
58:
Biochemical effects of 17β-hydroxysteroid deficiency-3 in testosterone biosynthesis. Typically levels of androstenedione are significantly increased, whilst testosterone levels are decreased, leading to male
1686:
854:
Pleskacova, J.; Hersmus, R.; Oosterhuis, J.W.; Setyawati, B.A.; Faradz, S.M.; Cools, M.; Wolffenbuttel, K.P.; Lebl, J.; Drop, S.L.; Looijenga, L.H. (2010). "Tumor Risk in
Disorders of Sex Development".
1106:
1577:
1506:
1059:
1499:
1181:
2115:
1024:
460:
1032:
1459:
319:
gender role change identified the rate of gender role change as occurring in 39–64% of individuals with 17β-hydroxysteroid dehydrogenase III deficiency raised as girls.
992:
1540:
752:
1906:
1745:
618:
1242:
360:
1000:
941:
Cohen-Kettenis, Peggy T. (August 2005). "Gender Change in 46,XY Persons with 5α-Reductase-2 Deficiency and 17β-Hydroxysteroid
Dehydrogenase-3 Deficiency".
1841:
1691:
997:"Intersex Awareness Day – Wednesday 26 October. End violence and harmful medical practices on intersex children and adults, UN and regional experts urge"
2034:
1949:
1944:
775:
1939:
1649:
731:
179:
124:
2110:
359:, without requiring Court oversight - these were described by the judge as surgeries that "enhanced the appearance of her female genitalia".
1934:
1273:
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1397:
1053:
391:
376:
2120:
1587:
1021:
1283:
468:
536:
438:
2089:
2054:
1929:
1724:
1211:
381:
303:
The management of 17β-hydroxysteroid dehydrogenase III deficiency can consist, according to one source, of the elimination of
2059:
1834:
1634:
1237:
503:
348:
294:
112:
461:"17-beta hydroxysteroid dehydrogenase 3 deficiency | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
431:"17-beta hydroxysteroid dehydrogenase 3 deficiency | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
2064:
2029:
1049:
270:
In terms of the diagnosis of 17β-hydroxysteroid dehydrogenase III deficiency the following should be taken into account:
2125:
2074:
2044:
1901:
1750:
1552:
1176:
337:
136:
116:
996:
610:
1804:
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enzyme, impairing of the conversion of 17-keto into 17-hydroxysteroids. The enzyme is involved in the last phase of
2084:
1965:
1911:
1871:
1866:
1827:
1779:
1089:
343:
277:
1319:
2039:
1729:
1408:
17:
2069:
1172:"The medical community's approach to intersex people is still primarily focused on 'normalising' surgeries"
652:
174:
The autosomal recessive deficiency arises are a result of homozygous or compound heterozygous mutations in
833:
247:
243:
1470:
767:
723:
906:
Hewitt, Jacqueline K.; Warne, Garry L. (February 2009). "Management of disorders of sex development".
724:"Orphanet: 46,XY disorder of sex development due to 17 beta hydroxysteroid dehydrogenase 3 deficiency"
2049:
1774:
1572:
2079:
2009:
1799:
1386:
1136:
1102:
364:
152:
109:
2002:
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68:
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1279:
1045:
966:
958:
923:
880:
872:
746:
696:
591:
86:
60:
1361:
797:"HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 [Homo sapiens (human)] - Gene - NCBI"
2024:
2019:
1850:
1233:
1085:
950:
915:
864:
688:
581:
573:
168:
164:
2014:
1990:
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46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
1028:
312:
282:
259:
187:
183:
1309:
528:
430:
1629:
1582:
586:
561:
253:
A deficiency in the HSD17B3 gene is characterized biochemically by decreased levels of
239:
148:
1491:
1391:
50:
2104:
1997:
1876:
978:
1203:
708:
1985:
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495:
1413:
1701:
1644:
1605:
1563:
692:
401:
356:
1424:
1376:
954:
230:
1141:"Carla's case ignites firestorm among intersex community on need for surgery"
962:
927:
876:
645:"OMIM Entry - # 264300 - 17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY"
1661:
1430:
1238:"The Family Court case Re: Carla (Medical procedure) [2016] FamCA 7"
919:
199:
140:
970:
884:
826:"OMIM Entry - * 605573 - 17-BETA HYDROXYSTEROID DEHYDROGENASE III; HSD17B3"
700:
595:
577:
143:
which can be complete or predominantly female with a blind vaginal pouch.
1886:
1766:
1711:
1657:
1465:
796:
529:"Testosterone 17-beta-dehydrogenase deficiency - Conditions - GTR - NCBI"
409:
405:
386:
215:
1344:
1620:
396:
308:
219:
195:
175:
868:
1371:
1356:
1107:"Family Court backs parents on removal of gonads from intersex child"
304:
144:
1479:
1819:
229:
222:) gene.17β-HSD III deficiency is an autosomal recessive disorder.
27:
Rare autosomal recessive disorder causing impaired masculinisation
1435:
363:
found this "disturbing", and stated that the case was reliant on
127:(17β-HSD III), presents as atypical genitalia in affected males.
1454:
1402:
644:
1823:
1495:
825:
135:
17-β-Hydroxysteroid dehydrogenase III deficiency is a cause of
214:
17β-Hydroxysteroid dehydrogenase III deficiency is caused by
1692:
Apparent mineralocorticoid excess syndrome/11β-dehydrogenase
139:(46,XY DSD) that presents in males with variable effects on
1578:
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
1275:
Syndromes: Rapid
Recognition and Perioperative Implications
238:
Androstenedione is produced in the testis, as well as the
681:
The
Journal of Steroid Biochemistry and Molecular Biology
562:"Consensus statement on management of intersex disorders"
560:
Lee P. A.; Houk C. P.; Ahmed S. F.; Hughes I. A. (2006).
1334:
1204:"Australian court approves intersex child's surgery"
367:
and failed to take account of data on cancer risks.
1978:
1958:
1920:
1894:
1885:
1857:
1792:
1764:
1709:
1700:
1628:
1619:
1561:
1529:
1445:
1338:
1033:
611:"17-beta hydroxysteroid dehydrogenase 3 deficiency"
95:
85:
77:
67:
40:
35:
993:Office of the High Commissioner for Human Rights
1320:17β-Hydroxysteroid dehydrogenase III deficiency
106:17β-Hydroxysteroid dehydrogenase III deficiency
99:Gonads should be monitored(possible malignancy)
36:17β-Hydroxysteroid dehydrogenase III deficiency
18:17-beta-hydroxysteroid dehydrogenase deficiency
1022:Report of the UN Special Rapporteur on Torture
673:
671:
669:
1835:
1507:
1243:Organisation Intersex International Australia
1055:Human rights and intersex people, Issue Paper
361:Organisation Intersex International Australia
8:
2116:Cholesterol and steroid metabolism disorders
274:Increased androstenedione:testosterone ratio
1907:17β-Hydroxysteroid dehydrogenase deficiency
1746:17β-Hydroxysteroid dehydrogenase deficiency
751:: CS1 maint: numeric names: authors list (
206:of affected males still occurs at puberty.
1891:
1842:
1828:
1820:
1741:3β-Hydroxysteroid dehydrogenase deficiency
1706:
1625:
1514:
1500:
1492:
1335:
1077:
1075:
186:and is responsible for the conversion of
49:
32:
2035:Cytochrome P450 oxidoreductase deficiency
585:
397:17β-Hydroxysteroid dehydrogenase Type III
1950:Familial male-limited precocious puberty
1945:Complete androgen insensitivity syndrome
1755:Pseudovaginal perineoscrotal hypospadias
1940:Partial androgen insensitivity syndrome
1650:Glucocorticoid remediable aldosteronism
422:
81:Mutations found in the 17β-HSD III gene
1003:from the original on November 21, 2016
768:"androstenedione | C19H26O2 - PubChem"
744:
523:
521:
1935:Mild androgen insensitivity syndrome
1151:from the original on December 4, 2021
1117:from the original on December 4, 2021
722:RESERVED, INSERM US14 -- ALL RIGHTS.
639:
637:
635:
555:
553:
489:
487:
485:
155:. Wolffian derivatives including the
7:
1170:Copland, Simon (December 15, 2016).
180:17β-hydroxysteroid dehydrogenase III
125:17β-hydroxysteroid dehydrogenase III
1523:Inborn errors of steroid metabolism
377:Inborn errors of steroid metabolism
242:. Androstenedione is created from
25:
1202:Dunlop, Greg (December 7, 2016).
441:from the original on 30 July 2019
137:46,XY disorder of sex development
117:46,XY disorder of sex development
1302:
1214:from the original on May 5, 2019
392:17β-Hydroxysteroid dehydrogenase
2090:Hypergonadotropic hypergonadism
2055:Estrogen insensitivity syndrome
1930:Androgen insensitivity syndrome
1062:from the original on 2016-01-06
836:from the original on 2019-05-05
807:from the original on 2018-12-15
778:from the original on 2019-05-05
734:from the original on 2017-11-28
655:from the original on 2019-05-05
621:from the original on 2019-05-05
539:from the original on 2019-06-05
506:from the original on 5 May 2019
382:Disorders of sexual development
2060:Hypergonadotropic hypogonadism
1082:Re: Carla (Medical procedure)
349:intersex medical interventions
295:Intersex medical interventions
113:disorder of sexual development
73:Hypothyroidism, Cryptorchidism
1:
2111:Autosomal recessive disorders
2065:Hypogonadotropic hypogonadism
2030:Postorgasmic illness syndrome
1050:Commissioner for Human Rights
115:condition that is a cause of
2075:Estrogen-dependent condition
2045:Androgen-dependent condition
1553:Mevalonate kinase deficiency
1278:. McGraw Hill Professional.
338:Intersex rights in Australia
1272:Bissonnette, Bruno (2006).
943:Archives of Sexual Behavior
693:10.1016/j.jsbmb.2016.05.002
119:(46,XY DSD). The impaired
2142:
2085:Gonadotropin insensitivity
1966:Sertoli cell-only syndrome
1720:17α-Hydroxylase deficiency
1598:Smith–Lemli–Opitz syndrome
1588:Conradi–Hünermann syndrome
609:Reference, Genetics Home.
494:Reference, Genetics Home.
335:
292:
218:found in the 17β-HSD III (
2121:Endocrine gonad disorders
1912:Aromatase excess syndrome
1902:5α-reductase 2 deficiency
1872:Premature ovarian failure
1867:Polycystic ovary syndrome
1780:Aromatase excess syndrome
1751:5α-reductase 2 deficiency
955:10.1007/s10508-005-4339-4
465:rarediseases.info.nih.gov
435:rarediseases.info.nih.gov
344:Family Court of Australia
278:Thyroid dyshormonogenesis
57:
48:
2040:Cytochrome b5 deficiency
1541:HMG-CoA lyase deficiency
1088: (20 January 2016),
772:pubchem.ncbi.nlm.nih.gov
2070:Fertile eunuch syndrome
920:10.2217/17455111.3.1.51
615:Genetics Home Reference
500:Genetics Home Reference
342:A 2016 case before the
178:gene which encodes the
147:are often found in the
1805:Antley–Bixler syndrome
1725:17,20-Lyase deficiency
1086:[2016] FamCA 7
578:10.1542/peds.2006-0738
248:17-hydroxyprogesterone
244:dehydroepiandrosterone
235:
336:Further information:
293:Further information:
233:
2050:Aromatase deficiency
1775:Aromatase deficiency
1682:CAH 3β-dehydrogenase
1573:7-Dehydrocholesterol
1236:(December 8, 2016).
1139:(December 8, 2016).
1137:Overington, Caroline
1105:(December 7, 2016).
1103:Overington, Caroline
995:(October 24, 2016).
801:www.ncbi.nlm.nih.gov
533:www.ncbi.nlm.nih.gov
2126:Intersex variations
2080:Premature thelarche
1800:X-linked ichthyosis
1672:CAH 11β-hydroxylase
1667:CAH 17α-hydroxylase
365:gender stereotyping
323:Society and culture
110:autosomal recessive
2003:Precocious puberty
1687:CAH 21-hydroxylase
1548:Hyper-IgD syndrome
1446:External resources
1027:2016-08-24 at the
857:Sexual Development
311:, in turn halting
236:
131:Signs and symptoms
2098:
2097:
1974:
1973:
1922:Androgen receptor
1817:
1816:
1813:
1812:
1788:
1787:
1489:
1488:
1234:Carpenter, Morgan
1046:Council of Europe
869:10.1159/000314536
332:The case of Carla
262:to testosterone.
169:ejaculatory ducts
103:
102:
87:Diagnostic method
61:undervirilization
30:Medical condition
16:(Redirected from
2133:
2025:Hyperestrogenism
2020:Hyperandrogenism
1892:
1851:Gonadal disorder
1844:
1837:
1830:
1821:
1707:
1626:
1516:
1509:
1502:
1493:
1336:
1306:
1305:
1296:
1294:
1292:
1259:
1258:
1256:
1255:
1246:. Archived from
1230:
1224:
1223:
1221:
1219:
1199:
1193:
1192:
1190:
1189:
1180:. Archived from
1167:
1161:
1160:
1158:
1156:
1133:
1127:
1126:
1124:
1122:
1099:
1093:
1079:
1070:
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1068:
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1042:
1036:
1035:, February 2013.
1019:
1013:
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1010:
1008:
989:
983:
982:
938:
932:
931:
908:Pediatric Health
903:
897:
896:
863:(4–5): 259–269.
851:
845:
844:
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557:
548:
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516:
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513:
511:
491:
480:
479:
477:
476:
467:. Archived from
457:
451:
450:
448:
446:
427:
165:seminal vesicles
123:biosynthesis by
53:
33:
21:
2141:
2140:
2136:
2135:
2134:
2132:
2131:
2130:
2101:
2100:
2099:
2094:
2015:Hypoestrogenism
2010:Hypoandrogenism
1991:Delayed puberty
1970:
1954:
1916:
1881:
1853:
1848:
1818:
1809:
1784:
1760:
1733:
1696:
1632:
1615:
1611:Desmosterolosis
1593:Lathosterolosis
1557:
1532:
1525:
1520:
1490:
1485:
1484:
1441:
1440:
1347:
1333:
1328:
1327:
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1303:
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1266:Further reading
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1044:
1043:
1039:
1029:Wayback Machine
1020:
1016:
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687:(Pt A): 79–85.
677:
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667:
658:
656:
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633:
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622:
608:
607:
603:
572:(2): e488–500.
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313:masculinization
297:
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283:Genetic testing
268:
260:androstenedione
234:Androstenedione
228:
212:
188:androstenedione
184:steroidogenesis
133:
91:Genetic testing
31:
28:
23:
22:
15:
12:
11:
5:
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1630:Corticosteroid
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1583:CHILD syndrome
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1339:Classification
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1331:External links
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1145:The Australian
1128:
1111:The Australian
1094:
1071:
1052:(April 2015),
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1014:
984:
949:(4): 399–410.
933:
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817:
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758:
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665:
631:
601:
549:
517:
496:"HSD17B3 gene"
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240:adrenal cortex
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149:inguinal canal
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1998:Hypergonadism
1996:
1992:
1989:
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1984:
1983:
1981:
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1730:Cytochrome b
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1090:Family Court
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434:
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353:clitorectomy
351:including a
341:
326:
317:
302:
298:
269:
255:testosterone
252:
237:
213:
204:Virilization
192:testosterone
173:
161:vas deferens
157:epididymides
134:
121:testosterone
105:
104:
1702:Sex steroid
1645:aldosterone
1633:(including
1606:desmosterol
1564:cholesterol
402:Sex hormone
357:labiaplasty
41:Other names
2105:Categories
1887:Testicular
1734:deficiency
1531:Mevalonate
1420:DiseasesDB
1254:2017-02-02
1188:2017-02-05
1066:2017-03-19
840:2017-03-13
811:2017-03-13
782:2017-03-17
738:2017-03-12
659:2017-03-11
625:2017-03-11
566:Pediatrics
543:2017-03-17
475:2017-03-11
417:References
289:Management
246:(DHEA) or
108:is a rare
1895:Enzymatic
1767:estrogens
1712:androgens
1662:cortisone
1431:SNOMED CT
1155:March 19,
1121:March 19,
1007:March 19,
979:146495456
963:0004-0002
928:1745-5111
877:1661-5433
766:Pubchem.
307:prior to
266:Diagnosis
226:Mechanism
216:mutations
200:estradiol
141:genitalia
96:Treatment
1658:cortisol
1621:Steroids
1480:Q4552290
1466:Orphanet
1436:50658006
1291:11 March
1218:June 22,
1212:Archived
1208:BBC News
1149:Archived
1115:Archived
1060:archived
1025:Archived
1001:Archived
971:16010463
885:20558977
834:Archived
830:omim.org
805:Archived
776:Archived
747:cite web
732:Archived
709:25083887
701:27163392
653:Archived
649:omim.org
619:Archived
596:16882788
537:Archived
510:11 March
504:Archived
439:Archived
410:estrogen
406:androgen
387:Intersex
371:See also
210:Genetics
151:or in a
69:Symptoms
1979:General
1859:Ovarian
1533:pathway
1476:Scholia
1414:C537805
1314:disease
1310:Scholia
893:1847011
587:2082839
445:30 July
309:puberty
220:17BHSD3
196:estrone
176:HSD17B3
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145:Testes
78:Causes
1959:Other
1793:Other
1679:both:
1608:path:
1575:path:
1425:32638
1392:257.2
1377:E29.1
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975:S2CID
889:S2CID
705:S2CID
1455:GARD
1409:MeSH
1398:OMIM
1387:9-CM
1293:2017
1280:ISBN
1220:2018
1157:2017
1123:2017
1009:2017
967:PMID
959:ISSN
924:ISSN
881:PMID
873:ISSN
753:link
697:PMID
592:PMID
512:2017
447:2019
355:and
194:and
1765:To
1710:To
1635:CAH
1562:To
1471:752
1383:ICD
1368:ICD
1353:ICD
1177:SBS
951:doi
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