519:. During surgery, a normal male urogenital tract was observed as well as other features consistent with PPSH. DHT was almost undetectable in cultured fibroblasts from foreskin, epididymis and the presumed "labia majora" whereas in normal males DHT is detected, suggesting impaired DHT formation. Similar conclusions were obtained for participants in a family in the Dominican Republic study, in whom high serum concentration ratios of T to DHT and low concentrations of urinary 5a-reduced androgens were observed. This disorder is now known to be due to homozygous or compound heterozygous loss-of-function mutations of the SRD5A2 gene.
386:) is required in prepubertal children (with stimulation and samples taken over several days) to increase serum testosterone levels for measurement. Interpreting T/DHT ratios in male newborns is especially challenging due to neonatal testosterone surge and higher than normal 5a-reductase type 1 activity. SRD5A2 gene analysis is recommended for diagnosis in newborns. Broadly, 5αR2D is diagnosed with T/DHT ratios greater than 18 while ratios greater than 30 have been observed in severely affected individuals. 5αR2D can also be indicated by low ratios of 5α- to 5ß- reduced steroids, as measured in urine measured via
1461:
Kayemba-Kay's, Kabangu; De
Kerdanet, Marc; Kurtz, François; Leheup, Bruno; Heinrichs, Claudine; Tenoutasse, Sylvie; Van Vliet, Guy; Grüters, Annette; Eunice, Marumudi; Ammini, Ariachery C.; Hafez, Mona; Hochberg, Ze'ev; Einaudi, Sylvia; Al Mawlawi, Horia; del Valle Nuñez, Cristóbal J.; Servant, Nadège; Lumbroso, Serge; Paris, Françoise; Sultan, Charles (February 2011). "Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients".
86:
48:
515:
a blind-ending vagina. This disorder was consistent with 5αR2D as the underlying cause as observed in animal models. 5αR2D was confirmed as the cause in humans in 1974, when studies were done of 24 participants in the
Dominican Republic and 2 in Dallas Texas, USA. One of the cases in Dallas began to virilize at puberty and underwent surgery to remove testes and "repair" the apparent
378:
Endocrinological tests for T/DHT ratios can be difficult to interpret since the normal ratio level varies according to age and severity of 5αR2 activity impairment. Affected young males of at least pubertal age with normal serum T levels demonstrate elevated T/DHT levels (normal T, lower than normal DHT). Stimulation with
514:
An autosomal recessive disorder of sex development, described as pseudovaginal perineoscrotal hypospadias (PPSH), was discovered in males in 1961. The main feature of this syndrome was a vulva with the presence of bilateral testes and male urogenital tracts in which the ejaculatory ducts terminate in
352:
Diagnosis is usually made between birth and puberty. Pseudovaginal perineoscrotal hypospadias presenting with female-appearing genitalia and pubertal virilization is the classical syndrome attributed to 5αR2D, but modern diagnostic methods can diagnose the deficiency shortly after birth and recognize
1812:
Maimoun, L; Philibert, P; Cammas, B; Audran, F; Bouchard, P; Fenichel, P; Cartigny, M; Pienkowski, C; Polak, M; Skordis, N; Mazen, I; Ocal, G; Berberoglu, M; Reynaud, R; Baumann, C; Cabrol, S; Simon, D; Kayemba-Kay's, K; De
Kerdanet, M; Kurtz, F; Leheup, B; Heinrichs, C; Tenoutasse, S; Van Vliet, G;
466:
5αR2D is a rare condition with a worldwide distribution. A 2020 study identified 434 cases of 5αR2D across 44 countries including Turkey (23%), China (17%), Italy (9%), and Brazil (7%). The same study also found that genitalia virilization influenced sex assignment while gender change was influenced
416:
One of the most clinically challenging and controversial topics with 46,XY DSD is the practice of "sex assignment" or "sex of rearing". This is especially so in 5αR2D, since most affected individuals have undervirilized genitalia at birth but virilize to varying degrees at puberty. Historically most
343:
SRD5A2 mutations are inherited in an autosomal recessive pattern. Homozygous defects are more common than compound heterozygous ones. A phenotype-genotype correlation is not known to exist for many of the most common mutations, and affected males with the same 5αR2 mutations have variable phenotypes
1682:
Kolesinska, Z; Ahmed, SF; Niedziela, M; Bryce, J; Molinska-Glura, M; Rodie, M; Jiang, J; Sinnott, RO; Hughes, IA; Darendeliler, F; Hiort, O; van der Zwan, Y; Cools, M; Guran, T; Holterhus, PM; Bertelloni, S; Lisa, L; Arlt, W; Krone, N; Ellaithi, M; Balsamo, A; Mazen, I; Nordenstrom, A; Lachlan, K;
373:
abnormalities. With the determination of an XY karyotype and normal SRY, the differential diagnosis of 46,XY DSD is made with endocrinological measurements of T/DHT ratios (which indicate 5αR2 activity) and precise anatomical imaging since 5αR2D can be difficult to distinguish from other causes of
1460:
Maimoun, Laurent; Philibert, Pascal; Cammas, Benoit; Audran, Françoise; Bouchard, Philippe; Fenichel, Patrick; Cartigny, Maryse; Pienkowski, Catherine; Polak, Michel; Skordis, Nicos; Mazen, Inas; Ocal, Gonul; Berberoglu, Merih; Reynaud, Rachel; Baumann, Clarisse; Cabrol, Sylvie; Simon, Dominique;
424:
Female sex rearing in 5αR2D individuals involves surgical procedures such as childhood gonadectomy (to prevent virilization at puberty) and vaginoplasty. Life-long hormonal treatments as also required for the development and maintenance of female secondary sex characteristics. Male sex of rearing
1813:
Grüters, A; Eunice, M; Ammini, AC; Hafez, M; Hochberg, Z; Einaudi, S; Al
Mawlawi, H; Nuñez, CJ; Servant, N; Lumbroso, S; Paris, F; Sultan, C (February 2011). "Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients".
1270:
Hiort, Olaf; Willenbring, Holger; Albers, Norbert; Hecker, Wolfgang; Engert, Jürgen; Dibbelt, Leif; Sinnecker, Gernot H. G. (June 1996). "Molecular genetic analysis and human chorionic gonadotropin stimulation tests in the diagnosis of prepubertal patients with partial 5α-reductase deficiency".
356:
The initial diagnosis of 46,XY DSD is indicated by overt genital abnormality. The objective clinical evaluation of dysmorphic features to diagnose 46,XY DSD for apparent female genitalia includes enlarged clitoris, posterior labial fusion, and inguinal/labial mass. For apparent male genitalia:
442:
Spontaneous fertility in 5αR2D affected males is very unusual (though has been observed) due to semen abnormalities that include reduced sperm counts, high semen viscosity and, in some cases, lack of primary spermatocytes. This supports the notion that DHT has an important role in spermatocyte
377:
The measurement of the serum DHT concentration is challenging since the concentrations are low and DHT has a high level of cross-reactivity. A high level of assay specificity is required to measure concentrations of DHT since serum T levels are generally 10-fold higher than DHT in young males.
433:
The intersection of the child's well-being, parental wishes, recommendations of the associated medical team, and local laws makes decision-making challenging in these cases. The necessity and ethics around consent and deception involved in administering such interventions have been seriously
420:
The goal of sex assignment/rearing is to facilitate the greatest likelihood of concordant gender identity in the patient's adulthood. The factors that contribute to gender identity are complex and not easy to report but some factors that contribute include sex chromosomes, androgen exposure,
243:
is common. Males with the same mutations in SRD5A2 can have different phenotypes suggesting additional factors that are involved in clinical presentation. Females with the same mutations in SRD5A2 as affected males (as seen in siblings) are unaffected and have normal female phenotypes and
1632:
Byers, Heather M.; Mohnach, Lauren H.; Fechner, Patricia Y.; Chen, Ming; Thomas, Inas H.; Ramsdell, Linda A.; Shnorhavorian, Margarett; McCauley, Elizabeth A.; Amies
Oelschlager, Anne-Marie E.; Park, John M.; Sandberg, David E.; Adam, Margaret P.; Keegan, Catherine E. (June 2017).
1577:
Parisi, Melissa A; Ramsdell, Linda A; Burns, Mark W; Carr, Michael C; Grady, Richard E; Gunther, Daniel F; Kletter, Gadi B; McCauley, Elizabeth; Mitchell, Michael E; Opheim, Kent E; Pihoker, Catherine; Richards, Gail E; Soules, Michael R; Pagon, Roberta A (June 2007).
1496:
Chan, Angel On Kei; But, Betty Wai Man; Lee, Ching Yin; Lam, Yuen Yu; Ng, Kwok Leung; Tung, Joanna Yuet Ling; Kwan, Elaine Yin Wah; Chan, Yuk Kit; Tsui, Teresa Kam Chi; Lam, Almen Lai Na; Tse, Wing Yee; Cheung, Pik To; Shek, Chi Chung (1 May 2013).
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and hypospadias must be addressed to prevent damage to the seminiferous tubules that are essential for spermatogenesis and fertility. Some approaches encourage a diagnosis during infancy prior to any gender assignment or surgical interventions.
2786:
2771:
2756:
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Walsh, PC; Madden, JD; Harrod, MJ; Goldstein, JL; MacDonald, PC; Wilson, JD (31 October 1974). "Familial incomplete male pseudohermaphroditism, type 2. Decreased dihydrotestosterone formation in pseudovaginal perineoscrotal hypospadias".
505:
as men, but are not necessarily completely treated as such by society. In Papua New Guinea, it has been said that the "girl" is shunned when he begins his natural transformation into a male body and socially assumes a male gender role.
550:" relating to elevated androgen levels. The athletes were all from developing countries where lifetime access to hormone replacement may prove elusive. Intersex advocates regard this intervention as "a clearly coercive process".
443:
differentiation. The broad spectrum of presentation is consistent with highly varying sperm counts among affected males. Testicular function may also be impaired by incomplete descent as well as the genetic mutation itself.
2928:
1848:
Hughes, IA; Houk, C; Ahmed, SF; Lee, PA; Lawson
Wilkins Pediatric Endocrine Society/European Society for Paediatric Endocrinology Consensus, Group. (June 2006). "Consensus statement on management of intersex disorders".
3134:
3086:
3081:
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Chavhan, Govind B.; Parra, Dimitri A.; Oudjhane, Kamaldine; Miller, Stephen F.; Babyn, Paul S.; Pippi Salle, Foao L. (November 2008). "Imaging of
Ambiguous Genitalia: Classification and Diagnostic Approach".
3256:
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417:
5αR2D individuals have been "raised as females", but later reports show that over half of patients who underwent virilizing puberty adopted a male gender identity thus challenging historical practices.
2992:
2921:
2258:
Imperato-McGinley J, Miller M, Wilson JD, Peterson RE, Shackleton C, Gajdusek DC (April 1991). "A cluster of male pseudohermaphrodites with 5 alpha-reductase deficiency in Papua New Guinea".
804:
Mendonca, Berenice B.; Batista, Rafael Loch; Domenice, Sorahia; Costa, Elaine M.F.; Arnhold, Ivo J.P.; Russell, David W.; Wilson, Jean D. (October 2016). "Steroid 5α-reductase 2 deficiency".
357:
nonpalpable testes, micropenis, isolated perineal hypospadias, or mild hypospadias with undescended testis. Family history and prenatal history are also taken into account in the evaluation.
2006:
Costa, Elaine; Domenice, Sorahia; Sircili, Maria; Inacio, Marlene; Mendonca, Berenice (8 October 2012). "DSD Due to 5α-Reductase 2 Deficiency — from
Diagnosis to Long Term Outcome".
742:
Mendonca, Berenice
Bilharinho; Domenice, Sorahia; Arnhold, Ivo J. P.; Costa, Elaine M. F. (February 2009). "46,XY disorders of sex development (DSD): 46,XY disorders of sex development".
2914:
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Labrie, F; Sugimoto, Y; Luu-The, V; Simard, J; Lachance, Y; Bachvarov, D; Leblanc, G; Durocher, F; Paquet, N (September 1992). "Structure of human type II 5 alpha-reductase gene".
3903:
3249:
2328:
Imperato-McGinley, J; Guerrero, L; Gautier, T; Peterson, RE (27 December 1974). "Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism".
187:
The investigation of 5αR2D as a disease has played a key role in the biochemical characterization of the SRD5A2 gene, the 5αR2 enzyme, and DHT in male sexual differentiation.
293:(AR). Upon binding, the DHT-AR complex translocates from cytoplasm to the nucleus and activates the androgen receptor-regulated genes involved in processes that include
309:
of 5αR can catalyze the transformation of T to DHT, but it is only 5αR2D that causes 46XY, DSD. 5αR2 is encoded by the gene SRD5A2 which is located on the short arm of
2049:
Katz, Melissa D.; Kligman, Isaac; Cai, Li-Qun; Zhu, Yuan-Shan; Fratianni, Carmel M.; Zervoudakis, Ioannis; Rosenwaks, Zev; Imperato-McGinley, Julianne (3 April 1997).
259:
281:, encoded by the SRD5A2 gene, that is expressed in specific tissues in the male body from fetal development to adulthood. The enzyme catalyzes the transformation of
3242:
2955:
3699:
3160:
2551:
1769:
Costa, EM; Domenice, S; Sircili, MH; Inacio, M; Mendonca, BB (October 2012). "DSD due to 5α-reductase 2 deficiency — from diagnosis to long term outcome".
580:
is about a young man with 5-ARD. The character was originally born
Calliope and raised as a girl, but upon realizing his genetic sex, he transitions into Cal.
211:
loss-of-function. Affected males exhibit a broad spectrum of presentation including atypical genitalia (ranging from female-appearing to underutilized male),
157:
during the development of the male fetus. 5αR2D is a result of impaired 5αR2 activity resulting in decreased DHT levels. This defect results in a spectrum of
1726:
Cohen-Kettenis, PT (August 2005). "Gender change in 46,XY persons with 5alpha-reductase-2 deficiency and 17beta-hydroxysteroid dehydrogenase-3 deficiency".
2133:"The first successful paternity through in vitro fertilization–intracytoplasmic sperm injection with a man homozygous for the 5α-reductase-2 gene mutation"
340:, and gross deletions were also observed. Mutations result in a spectrum of activity effects ranging from destabilizing 5αR2 to complete loss of activity.
2874:
3634:
3106:
3827:
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Thigpen, A E; Davis, D L; Milatovich, A; Mendonca, B B; Imperato-McGinley, J; Griffin, J E; Francke, U; Wilson, J D; Russell, D W (1 September 1992).
387:
3742:
3737:
2417:"Diminished 5alpha-reductase activity in extracts of fibroblasts cultured from patients with familial incomplete male pseudohermaphroditism, type 2"
3732:
3064:
255:
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41:
5-alpha reductase deficiency, Pseudovaginal perineoscrotal hypospadias 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency.
3507:
2643:
2584:
3727:
184:
is a challenging and controversial area. Diagnostic availability, local laws, and parental anxiety all play roles in treatment decisions.
3012:
2131:
Kang, Hey-Joo; Imperato-McGinley, Julianne; Zhu, Yuan-Shan; Cai, Li-Qun; Schlegel, Peter; Palermo, Gianpiero; Rosenwaks, Zev (May 2011).
546:. The authors noted that "partial clitoridectomy" was "not medically indicated, does not relate to real or perceived athletic 'advantage,
2937:
2801:
619:
3908:
203:(46,XY DSD) called 5α-reductase 2 deficiency (5αR2D). The mutations are inherited in an autosomal recessive pattern and can be either
3002:
3234:
1971:
Deykin, Daniel; Balko, Christine; Wilson, Jean D. (21 December 1972). "Recent Studies on the Mechanism of Action of Testosterone".
1683:
Alkhawari, M; Chatelain, P; Weintrob, N (September 2014). "Changes over time in sex assignment for disorders of sex development".
451:
294:
1925:
Dreger, Alice Domurat (May 1998). ""Ambiguous Sex": Or Ambivalent Medicine? Ethical Issues in the Treatment of Intersexuality".
3882:
3847:
3722:
3139:
892:"Immunohistochemical localization of steroid 5 alpha-reductase 2 in the human male fetal reproductive tract and adult prostate"
662:
606:
250:
of genitalia with voice deepening, development of muscle mass occurs at puberty in affected males, and height is not impaired.
3852:
3627:
3587:
3049:
2202:
2092:"Semen analysis and successful paternity by intracytoplasmic sperm injection in a man with steroid 5α-reductase-2 deficiency"
667:
467:
by cultural aspects across the countries. Molecular diagnosis resulted in favoring male sex assignment in affected newborns.
847:
Imperato-McGinley, J; Zhu, Y.-S (December 2002). "Androgens and male physiology the syndrome of 5α-reductase-2 deficiency".
374:
46,XY DSD (e.g., partial androgen insensitivity syndrome and 17β- hydroxysteroid dehydrogenase type 3 enzyme deficiencies).
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that was discovered from an analysis of affected males in a Papua New Guinean tribe. The majority of SRD5A2 mutations are
2670:
3913:
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3837:
3694:
3277:
3165:
2967:
379:
200:
1413:
Achermann, John C.; Domenice, Sorahia; Bachega, Tania A. S. S.; Nishi, Mirian Y.; Mendonca, Berenice B. (August 2015).
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447:
286:
146:
3832:
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3144:
2812:
3862:
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Wilson, Jean D.; Griffin, James E.; Russell, David W. (October 1993). "Steroid 5α-Reductase 2 Deficiency*".
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383:
150:
135:
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610:
263:
208:
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2600:
Hsu, Stephanie (2011). "Ethnicity and the Biopolitics of Intersex in Jeffrey Eugenides's 'Middlesex'".
1635:"Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency"
931:
Thigpen, A E; Silver, R I; Guileyardo, J M; Casey, M L; McConnell, J D; Russell, D W (1 August 1993).
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3292:
3189:
2987:
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2337:
1886:"Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family"
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Cheon, Chong Kun (January 2011). "Practical approach to steroid 5alpha-reductase type 2 deficiency".
1131:
337:
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329:
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residues with reported mutations at 67 of them with multiple different mutations at some residues.
240:
111:
85:
1017:"The 5 Alpha-Reductase Isozyme Family: A Review of Basic Biology and Their Role in Human Diseases"
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2644:"Jeffrey Eugenides's Middlesex gave me the courage to take risks in my writing | Nadifa Mohamed"
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reported that four elite women athletes with 5-ARD were subjected to sterilization and "partial
1118:
Andersson, Stefan; Berman, David M.; Jenkins, Elizabeth P.; Russell, David W. (November 1991).
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Avendaño, Andrea; Paradisi, Irene; Cammarata-Scalisi, Francisco; Callea, Michele (June 2018).
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74:
17:
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2051:"Paternity by Intrauterine Insemination with Sperm from a Man with 5α-Reductase-2 Deficiency"
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Levine, A C; Wang, J P; Ren, M; Eliashvili, E; Russell, D W; Kirschenbaum, A (January 1996).
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1499:"Diagnosis of 5α-Reductase 2 Deficiency: Is Measurement of Dihydrotestosterone Essential?"
502:
470:
Many SRD5A2 mutations come from areas with high coefficients of inbreeding, including the
393:
254:
is uncommon and bone density is normal in contrast to 46,XY DSD from other causes such as
220:
2728:
624:
274:
2341:
1180:"Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide"
1135:
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psychosocial development, cultural expectations, family dynamics, and social situation.
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1231:"5-α-Reductase type 2 deficiency: is there a genotype–phenotype correlation? A review"
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are used to resolve structures such as urethral and vaginal tracts. The use of pelvic
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138:(5αR2). The condition is rare, affects only genetic males, and has a broad spectrum.
2548:"UN Human Rights Council: resolution, statement and side event, "The time has come""
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Matsubara, Keiko; Iwamoto, Hideki; Yoshida, Atsumi; Ogata, Tsutomu (December 2010).
1613:
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is the primary means for assessing internal reproductive organs for diagnosis while
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62:
59:
55:
47:
2349:
1580:"A Gender Assessment Team: experience with 250 patients over a period of 25 years"
933:"Tissue distribution and ontogeny of steroid 5 alpha-reductase isozyme expression"
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1984:
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avoids lifelong hormonal treatments and allows for the potential of fertility.
212:
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993:
446:
Assisted reproduction methods involving sperm extraction and concentration for
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2780:
1739:
1334:
1247:
1230:
908:
891:
322:
216:
204:
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have all demonstrated successful outcomes for fertility in those with 5αR2D.
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366:
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158:
66:
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1992:
1954:
1911:
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5αR2 is expressed in specific tissues and catalyzes the transformation of
3679:
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics
1555:
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638:
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560:
154:
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3035:
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46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
2671:"Caster Semenya accuses IAAF of using her as a 'guinea pig experiment'"
2301:
NOWAKOWSKI, H; LENZ, W (1961). "Genetic aspects in male hypogonadism".
1946:
1284:
1120:"Deletion of steroid 5α-reductase 2 gene in male pseudohermaphroditism"
486: – suggesting a person's transformation "into a male thing"), and
344:
suggesting other interacting genetic factors that determine phenotype.
306:
170:
2748:
2517:
1370:
Philosophical Transactions of the Royal Society B: Biological Sciences
1086:
948:
173:(deep voice, facial hair, muscle bulk) since most aspects of pubertal
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1966:
1964:
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Batista, Rafael Loch; Mendonca, Berenice Bilharinho (14 April 2020).
1143:
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487:
318:
278:
236:
196:
132:
123:
98:
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Transforming Bodies: Makeovers and Monstrosities in American Culture
1938:
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2195:
Sexing the Body: Gender politics and the construction of sexuality
2839:
2692:"Of Athletes, Bodies and Rules: Making Sense of 'Caster Semenya'"
1015:
Azzouni, Faris; Godoy, Alejandro; Li, Yun; Mohler, James (2012).
2869:
2806:
2722:
2696:
314:
128:
3616:
3238:
2910:
1415:"Disorders of sex development: effect of molecular diagnostics"
2504:
1366:"Hypothalamic control of the male neonatal testosterone surge"
1071:"Molecular genetics of steroid 5 alpha-reductase 2 deficiency"
534:
405:
362:
169:. Affected males still develop typical masculine features at
3107:
Apparent mineralocorticoid excess syndrome/11β-dehydrogenase
289:(DHT) intracellularly. DHT is the most potent ligand to the
2993:
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
564:
season three episode "Quentin Costa", it is revealed that
806:
The Journal of Steroid Biochemistry and Molecular Biology
2415:
Moore, R J; Griffin, J E; Wilson, J D (September 1975).
2197:(1st ed.). New York, NY: Basic Books. p. 109.
1364:
Clarkson, Jenny; Herbison, Allan E. (19 February 2016).
493:
In the Dominican Republic, güevedoces are regarded as a
408:
for diagnostic imaging for 5αR2D remains controversial.
1463:
The Journal of Clinical Endocrinology & Metabolism
896:
The Journal of Clinical Endocrinology & Metabolism
328:
The first known mutation SRD5A2 was almost a complete
2738:
1890:
The Journal of Clinical Endocrinology and Metabolism
1815:
The Journal of Clinical Endocrinology and Metabolism
691:"5-alpha reductase deficiency: MedlinePlus Genetics"
3771:
3751:
3713:
3687:
3678:
3650:
3575:
3527:
3520:
3500:
3482:
3447:
3424:
3391:
3382:
3339:
3291:
3284:
3207:
3179:
3124:
3115:
3043:
3034:
2976:
2944:
2849:
2742:
93:
73:
37:
32:
3272:congenital anomalies of the genitalia, including
1884:Nordenskjöld, A; Ivarsson, SA (September 1998).
180:Management of this condition in the context of
1536:
1534:
1173:
1171:
1064:
1062:
799:
797:
795:
793:
791:
789:
787:
785:
783:
781:
149:(DHT). DHT plays a key role in the process of
3628:
3250:
2922:
2552:Organisation Intersex International Australia
2220:"5-alpha-reductase deficiency: a case report"
685:
683:
260:17β-hydroxysteroid dehydrogenase 3 deficiency
8:
3904:Cholesterol and steroid metabolism disorders
1627:
1625:
1623:
1316:
1314:
1312:
1310:
474:(where people with the condition are called
3700:17β-Hydroxysteroid dehydrogenase deficiency
3161:17β-Hydroxysteroid dehydrogenase deficiency
262:. Hair on the face and body is reduced and
3684:
3635:
3621:
3613:
3524:
3388:
3288:
3257:
3243:
3235:
3156:3β-Hydroxysteroid dehydrogenase deficiency
3121:
3040:
2929:
2915:
2907:
2739:
2173:"The extraordinary case of the Guevedoces"
717:"National Organization for Rare Disorders"
84:
46:
29:
3828:Cytochrome P450 oxidoreductase deficiency
2432:
2235:
2148:
2107:
2066:
1901:
1658:
1595:
1514:
1389:
1246:
1205:
1195:
1151:
1094:
1042:
1032:
956:
907:
365:gene analysis on samples from peripheral
3743:Familial male-limited precocious puberty
3738:Complete androgen insensitivity syndrome
3170:Pseudovaginal perineoscrotal hypospadias
721:National Organization for Rare Disorders
219:. The internal reproductive structures (
3733:Partial androgen insensitivity syndrome
3065:Glucocorticoid remediable aldosteronism
679:
256:partial androgen insensitivity syndrome
3492:Congenital absence of the vas deferens
2188:
2186:
3728:Mild androgen insensitivity syndrome
177:are driven by testosterone, not DHT.
7:
1184:The Application of Clinical Genetics
849:Molecular and Cellular Endocrinology
574:' Pulitzer Prize-winning 2002 novel
388:gas chromatography–mass spectrometry
353:the broad spectrum of presentation.
2938:Inborn errors of steroid metabolism
2382:The New England Journal of Medicine
2303:Recent Progress in Hormone Research
620:Inborn errors of steroid metabolism
501:. In adulthood, they most commonly
161:including overt genital ambiguity,
3508:Persistent Müllerian duct syndrome
2272:10.1111/j.1365-2265.1991.tb03769.x
380:human chorionic gonadotropin (hCG)
25:
2008:Seminars in Reproductive Medicine
1771:Seminars in Reproductive Medicine
1075:Journal of Clinical Investigation
937:Journal of Clinical Investigation
201:46,XY disorder of sex development
2150:10.1016/j.fertnstert.2011.01.121
2109:10.1016/j.fertnstert.2010.04.013
756:10.1111/j.1365-2265.2008.03392.x
452:intracytoplasmic sperm injection
69:in 5 alpha-reductase deficiency.
3883:Hypergonadotropic hypergonadism
3848:Estrogen insensitivity syndrome
3723:Androgen insensitivity syndrome
2690:Winkler, Matteo (18 Mar 2021).
2421:Journal of Biological Chemistry
2055:New England Journal of Medicine
1973:New England Journal of Medicine
663:Androgen insensitivity syndrome
607:Disorders of sexual development
3853:Hypergonadotropic hypogonadism
3588:Progestin-induced virilization
2218:Jong, Diana Mettadewi (2016).
2193:Fausto-Sterling, Anne (2000).
1323:European Journal of Pediatrics
1273:European Journal of Pediatrics
668:Congenital adrenal hyperplasia
153:in the external genitalia and
18:5-alpha-reductase 2 deficiency
1:
3858:Hypogonadotropic hypogonadism
3823:Postorgasmic illness syndrome
2669:Ingle, Sean (June 18, 2019).
2573:Steinhoff, H. (26 May 2015).
2434:10.1016/S0021-9258(19)40924-1
2350:10.1126/science.186.4170.1213
861:10.1016/s0303-7207(02)00368-4
478: – "testes at twelve"),
3868:Estrogen-dependent condition
3838:Androgen-dependent condition
2968:Mevalonate kinase deficiency
2729:5-Alpha-Reductase Deficiency
2224:Indonesian Pediatric Society
1863:10.1016/j.jpurol.2006.03.004
1851:Journal of Pediatric Urology
1597:10.1097/GIM.0b013e3180653c47
1516:10.1373/clinchem.2012.196501
1419:Nature Reviews Endocrinology
239:are usually undescended and
3439:Unilateral ovarian agenesis
2500:"Sex, health, and athletes"
2394:10.1056/NEJM197410312911806
2237:10.14238/pi43.6.2003.234-40
2068:10.1056/NEJM199704033361404
1985:10.1056/NEJM197212212872508
1728:Archives of Sexual Behavior
818:10.1016/j.jsbmb.2016.05.020
295:male sexual differentiation
3930:
3878:Gonadotropin insensitivity
3759:Sertoli cell-only syndrome
3416:Sertoli cell-only syndrome
3135:17α-Hydroxylase deficiency
3013:Smith–Lemli–Opitz syndrome
3003:Conradi–Hünermann syndrome
1927:The Hastings Center Report
994:10.1210/endo.131.3.1505484
497:and experience ambivalent
402:voiding cystourethrography
3909:Endocrine gonad disorders
3705:Aromatase excess syndrome
3695:5α-reductase 2 deficiency
3665:Premature ovarian failure
3660:Polycystic ovary syndrome
3567:Penoscrotal transposition
3195:Aromatase excess syndrome
3166:5α-reductase 2 deficiency
1740:10.1007/s10508-005-4339-4
1335:10.1007/s00431-010-1189-4
1248:10.1007/s42000-018-0013-9
909:10.1210/jcem.81.1.8550782
542:" in order to compete in
448:intrauterine insemination
338:splice junction mutations
108:5α-Reductase 2 deficiency
54:
45:
33:5α-Reductase 2 deficiency
3833:Cytochrome b5 deficiency
3465:Mixed gonadal dysgenesis
2956:HMG-CoA lyase deficiency
3863:Fertile eunuch syndrome
2137:Fertility and Sterility
2102:(7): 2770.e7–2770.e10.
2096:Fertility and Sterility
336:, but small deletions,
321:. 5αR2 consists of 254
244:reproductive function.
3460:Ovotesticular syndrome
3220:Antley–Bixler syndrome
3140:17,20-Lyase deficiency
2143:(6): 2125.e5–2125.e8.
2020:10.1055/s-0032-1324727
1903:10.1210/jcem.83.9.5125
1783:10.1055/s-0032-1324727
1697:10.1542/peds.2014-1088
1431:10.1038/nrendo.2015.69
1382:10.1098/rstb.2015.0115
744:Clinical Endocrinology
482:(where it is known as
456:in vitro fertilization
384:testosterone enanthate
287:5α-dihydrotestosterone
151:sexual differentiation
147:5α-dihydrotestosterone
3593:Pseudohermaphroditism
3470:XY gonadal dysgenesis
3434:XX gonadal dysgenesis
2614:10.1353/mel.2011.0045
2470:10.1210/edrv-14-5-577
611:pseudohermaphroditism
264:male pattern baldness
209:compound heterozygous
207:or, less frequently,
199:gene can result in a
3843:Aromatase deficiency
3598:True hermaphroditism
3293:Uterine malformation
3190:Aromatase deficiency
3097:CAH 3β-dehydrogenase
2988:7-Dehydrocholesterol
2492:Rebecca Jordan-Young
2179:. 20 September 2015.
1827:10.1210/jc.2010-1024
1651:10.1002/ajmg.c.31560
1584:Genetics in Medicine
1556:10.1148/rg.287085034
1475:10.1210/jc.2010-1024
1197:10.2147/TACG.S198178
499:gender socialisation
3914:Intersex variations
3873:Premature thelarche
3215:X-linked ichthyosis
3087:CAH 11β-hydroxylase
3082:CAH 17α-hydroxylase
2342:1974Sci...186.1213I
1136:1991Natur.354..159A
1034:10.1155/2012/530121
1021:Advances in Urology
653:Ambiguous genitalia
647:dihydrotestosterone
615:ambiguous genitalia
532:In April 2014, the
523:Society and culture
275:5α-Reductase type 2
241:prostate hypoplasia
136:5α-reductase type 2
112:autosomal recessive
3796:Precocious puberty
3354:Vaginal hypoplasia
3311:Unicornuate uterus
3301:Müllerian agenesis
3102:CAH 21-hydroxylase
2963:Hyper-IgD syndrome
2850:External resources
1503:Clinical Chemistry
1376:(1688): 20150115.
1285:10.1007/BF01955179
472:Dominican Republic
334:missense mutations
313:and contains five
191:Signs and symptoms
3891:
3890:
3767:
3766:
3715:Androgen receptor
3610:
3609:
3606:
3605:
3516:
3515:
3478:
3477:
3369:Cloacal exstrophy
3359:Imperforate hymen
3321:Bicornuate uterus
3306:Cervical agenesis
3232:
3231:
3228:
3227:
3203:
3202:
2904:
2903:
2586:978-1-137-49379-8
2518:10.1136/bmj.g2926
2494:; Peter Sonksen;
2458:Endocrine Reviews
2427:(18): 7168–7172.
1979:(25): 1284–1291.
1130:(6349): 159–161.
1087:10.1172/JCI115954
949:10.1172/JCI116665
572:Jeffrey Eugenides
291:androgen receptor
235:) are normal but
233:ejaculatory ducts
195:Mutations in the
105:
104:
97:Mutations in the
27:Medical condition
16:(Redirected from
3921:
3818:Hyperestrogenism
3813:Hyperandrogenism
3685:
3644:Gonadal disorder
3637:
3630:
3623:
3614:
3525:
3455:Gonadal agenesis
3389:
3364:Vaginal adenosis
3316:Uterus didelphys
3289:
3259:
3252:
3245:
3236:
3122:
3041:
2931:
2924:
2917:
2908:
2740:
2710:
2709:
2687:
2681:
2680:
2666:
2660:
2659:
2657:
2655:
2650:. 25 August 2014
2640:
2634:
2633:
2597:
2591:
2590:
2570:
2564:
2563:
2561:
2559:
2544:
2538:
2537:
2496:Katrina Karkazis
2488:
2482:
2481:
2453:
2447:
2446:
2436:
2412:
2406:
2405:
2376:
2370:
2369:
2336:(4170): 1213–5.
2325:
2319:
2318:
2298:
2292:
2291:
2255:
2249:
2248:
2246:
2244:
2239:
2215:
2209:
2208:
2190:
2181:
2180:
2169:
2163:
2162:
2152:
2128:
2122:
2121:
2111:
2087:
2081:
2080:
2070:
2046:
2040:
2039:
2003:
1997:
1996:
1968:
1959:
1958:
1922:
1916:
1915:
1905:
1881:
1875:
1874:
1845:
1839:
1838:
1809:
1803:
1802:
1766:
1760:
1759:
1723:
1717:
1716:
1679:
1673:
1672:
1662:
1629:
1618:
1617:
1599:
1574:
1568:
1567:
1550:(7): 1891–1904.
1538:
1529:
1528:
1518:
1493:
1487:
1486:
1457:
1451:
1450:
1410:
1404:
1403:
1393:
1361:
1355:
1354:
1318:
1305:
1304:
1267:
1261:
1260:
1250:
1226:
1220:
1219:
1209:
1199:
1175:
1166:
1165:
1155:
1144:10.1038/354159a0
1115:
1109:
1108:
1098:
1066:
1057:
1056:
1046:
1036:
1012:
1006:
1005:
988:(3): 1571–1573.
977:
971:
970:
960:
928:
922:
921:
911:
887:
881:
880:
844:
838:
837:
801:
776:
775:
739:
733:
732:
730:
728:
713:
707:
706:
704:
702:
687:
658:Intersex surgery
549:
540:clitoridectomies
480:Papua New Guinea
382:(alternatively,
266:does not occur.
225:seminal vesicles
89:
88:
80:Medical genetics
50:
30:
21:
3929:
3928:
3924:
3923:
3922:
3920:
3919:
3918:
3894:
3893:
3892:
3887:
3808:Hypoestrogenism
3803:Hypoandrogenism
3784:Delayed puberty
3763:
3747:
3709:
3674:
3646:
3641:
3611:
3602:
3571:
3512:
3496:
3474:
3443:
3420:
3378:
3374:Vaginal atresia
3335:
3280:
3263:
3233:
3224:
3199:
3175:
3148:
3111:
3047:
3030:
3026:Desmosterolosis
3008:Lathosterolosis
2972:
2947:
2940:
2935:
2905:
2900:
2899:
2845:
2844:
2751:
2719:
2714:
2713:
2689:
2688:
2684:
2668:
2667:
2663:
2653:
2651:
2642:
2641:
2637:
2599:
2598:
2594:
2587:
2572:
2571:
2567:
2557:
2555:
2546:
2545:
2541:
2490:
2489:
2485:
2455:
2454:
2450:
2414:
2413:
2409:
2378:
2377:
2373:
2327:
2326:
2322:
2300:
2299:
2295:
2260:Clin Endocrinol
2257:
2256:
2252:
2242:
2240:
2217:
2216:
2212:
2205:
2192:
2191:
2184:
2171:
2170:
2166:
2130:
2129:
2125:
2089:
2088:
2084:
2061:(14): 994–998.
2048:
2047:
2043:
2005:
2004:
2000:
1970:
1969:
1962:
1939:10.2307/3528648
1924:
1923:
1919:
1883:
1882:
1878:
1847:
1846:
1842:
1811:
1810:
1806:
1768:
1767:
1763:
1725:
1724:
1720:
1681:
1680:
1676:
1631:
1630:
1621:
1576:
1575:
1571:
1540:
1539:
1532:
1495:
1494:
1490:
1459:
1458:
1454:
1412:
1411:
1407:
1363:
1362:
1358:
1320:
1319:
1308:
1269:
1268:
1264:
1228:
1227:
1223:
1177:
1176:
1169:
1117:
1116:
1112:
1068:
1067:
1060:
1014:
1013:
1009:
979:
978:
974:
930:
929:
925:
889:
888:
884:
846:
845:
841:
803:
802:
779:
741:
740:
736:
726:
724:
723:. June 16, 2022
715:
714:
710:
700:
698:
697:. April 1, 2017
689:
688:
681:
676:
598:
586:
556:
554:Popular culture
547:
530:
525:
512:
464:
440:
414:
394:Ultrasonography
350:
303:
272:
221:vasa deferentia
215:, and isolated
193:
83:
28:
23:
22:
15:
12:
11:
5:
3927:
3925:
3917:
3916:
3911:
3906:
3896:
3895:
3889:
3888:
3886:
3885:
3880:
3875:
3870:
3865:
3860:
3855:
3850:
3845:
3840:
3835:
3830:
3825:
3820:
3815:
3810:
3805:
3800:
3799:
3798:
3788:
3787:
3786:
3775:
3773:
3769:
3768:
3765:
3764:
3762:
3761:
3755:
3753:
3749:
3748:
3746:
3745:
3740:
3735:
3730:
3725:
3719:
3717:
3711:
3710:
3708:
3707:
3702:
3697:
3691:
3689:
3682:
3676:
3675:
3673:
3672:
3667:
3662:
3656:
3654:
3648:
3647:
3642:
3640:
3639:
3632:
3625:
3617:
3608:
3607:
3604:
3603:
3601:
3600:
3595:
3590:
3585:
3579:
3577:
3573:
3572:
3570:
3569:
3564:
3559:
3554:
3549:
3544:
3539:
3533:
3531:
3522:
3518:
3517:
3514:
3513:
3511:
3510:
3504:
3502:
3498:
3497:
3495:
3494:
3488:
3486:
3480:
3479:
3476:
3475:
3473:
3472:
3467:
3462:
3457:
3451:
3449:
3445:
3444:
3442:
3441:
3436:
3430:
3428:
3422:
3421:
3419:
3418:
3413:
3408:
3403:
3401:Cryptorchidism
3397:
3395:
3386:
3380:
3379:
3377:
3376:
3371:
3366:
3361:
3356:
3351:
3349:Vaginal septum
3345:
3343:
3337:
3336:
3334:
3333:
3331:Arcuate uterus
3328:
3326:Uterine septum
3323:
3318:
3313:
3308:
3303:
3297:
3295:
3286:
3282:
3281:
3264:
3262:
3261:
3254:
3247:
3239:
3230:
3229:
3226:
3225:
3223:
3222:
3217:
3211:
3209:
3205:
3204:
3201:
3200:
3198:
3197:
3192:
3186:
3184:
3177:
3176:
3174:
3173:
3172:
3171:
3163:
3158:
3153:
3152:
3151:
3146:
3137:
3131:
3129:
3119:
3113:
3112:
3110:
3109:
3104:
3099:
3090:
3089:
3084:
3068:
3067:
3055:
3053:
3045:Corticosteroid
3038:
3032:
3031:
3029:
3028:
3016:
3015:
3010:
3005:
3000:
2998:CHILD syndrome
2995:
2983:
2981:
2974:
2973:
2971:
2970:
2965:
2959:
2958:
2952:
2950:
2942:
2941:
2936:
2934:
2933:
2926:
2919:
2911:
2902:
2901:
2898:
2897:
2888:
2877:
2866:
2854:
2853:
2851:
2847:
2846:
2843:
2842:
2831:
2820:
2809:
2798:
2783:
2768:
2752:
2747:
2746:
2744:
2743:Classification
2737:
2736:
2725:
2718:
2717:External links
2715:
2712:
2711:
2682:
2661:
2635:
2592:
2585:
2565:
2539:
2483:
2464:(5): 577–593.
2448:
2407:
2371:
2320:
2293:
2250:
2230:(6): 234–240.
2210:
2203:
2182:
2164:
2123:
2082:
2041:
2014:(5): 427–431.
1998:
1960:
1917:
1876:
1840:
1821:(2): 296–307.
1804:
1761:
1734:(4): 399–410.
1718:
1674:
1645:(2): 260–267.
1619:
1590:(6): 348–357.
1569:
1530:
1509:(5): 798–806.
1488:
1469:(2): 296–307.
1452:
1425:(8): 478–488.
1405:
1356:
1306:
1279:(6): 445–451.
1262:
1241:(2): 197–204.
1221:
1167:
1110:
1081:(3): 799–809.
1058:
1007:
972:
943:(2): 903–910.
923:
902:(1): 384–389.
882:
855:(1–2): 51–59.
839:
777:
750:(2): 173–187.
734:
708:
678:
677:
675:
672:
671:
670:
665:
660:
655:
650:
636:
622:
617:
604:
597:
594:
593:
592:
590:Caster Semenya
585:
584:Notable people
582:
555:
552:
529:
526:
524:
521:
511:
508:
463:
460:
439:
436:
427:Cryptorchidism
413:
410:
371:sex chromosome
349:
346:
302:
299:
271:
268:
192:
189:
182:sex assignment
110:(5αR2D) is an
103:
102:
95:
91:
90:
77:
71:
70:
52:
51:
43:
42:
39:
35:
34:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
3926:
3915:
3912:
3910:
3907:
3905:
3902:
3901:
3899:
3884:
3881:
3879:
3876:
3874:
3871:
3869:
3866:
3864:
3861:
3859:
3856:
3854:
3851:
3849:
3846:
3844:
3841:
3839:
3836:
3834:
3831:
3829:
3826:
3824:
3821:
3819:
3816:
3814:
3811:
3809:
3806:
3804:
3801:
3797:
3794:
3793:
3792:
3791:Hypergonadism
3789:
3785:
3782:
3781:
3780:
3777:
3776:
3774:
3770:
3760:
3757:
3756:
3754:
3750:
3744:
3741:
3739:
3736:
3734:
3731:
3729:
3726:
3724:
3721:
3720:
3718:
3716:
3712:
3706:
3703:
3701:
3698:
3696:
3693:
3692:
3690:
3686:
3683:
3681:
3677:
3671:
3670:Hyperthecosis
3668:
3666:
3663:
3661:
3658:
3657:
3655:
3653:
3649:
3645:
3638:
3633:
3631:
3626:
3624:
3619:
3618:
3615:
3599:
3596:
3594:
3591:
3589:
3586:
3584:
3583:Clitoromegaly
3581:
3580:
3578:
3574:
3568:
3565:
3563:
3560:
3558:
3555:
3553:
3550:
3548:
3545:
3543:
3540:
3538:
3535:
3534:
3532:
3530:
3526:
3523:
3519:
3509:
3506:
3505:
3503:
3499:
3493:
3490:
3489:
3487:
3485:
3481:
3471:
3468:
3466:
3463:
3461:
3458:
3456:
3453:
3452:
3450:
3446:
3440:
3437:
3435:
3432:
3431:
3429:
3427:
3423:
3417:
3414:
3412:
3409:
3407:
3406:Polyorchidism
3404:
3402:
3399:
3398:
3396:
3394:
3390:
3387:
3385:
3381:
3375:
3372:
3370:
3367:
3365:
3362:
3360:
3357:
3355:
3352:
3350:
3347:
3346:
3344:
3342:
3338:
3332:
3329:
3327:
3324:
3322:
3319:
3317:
3314:
3312:
3309:
3307:
3304:
3302:
3299:
3298:
3296:
3294:
3290:
3287:
3283:
3279:
3275:
3271:
3267:
3260:
3255:
3253:
3248:
3246:
3241:
3240:
3237:
3221:
3218:
3216:
3213:
3212:
3210:
3206:
3196:
3193:
3191:
3188:
3187:
3185:
3183:
3178:
3169:
3168:
3167:
3164:
3162:
3159:
3157:
3154:
3150:
3143:
3142:
3141:
3138:
3136:
3133:
3132:
3130:
3128:
3123:
3120:
3118:
3114:
3108:
3105:
3103:
3100:
3098:
3095:
3092:
3091:
3088:
3085:
3083:
3080:
3078:
3074:
3070:
3069:
3066:
3063:
3061:
3057:
3056:
3054:
3051:
3046:
3042:
3039:
3037:
3033:
3027:
3024:
3022:
3018:
3017:
3014:
3011:
3009:
3006:
3004:
3001:
2999:
2996:
2994:
2991:
2989:
2985:
2984:
2982:
2980:
2975:
2969:
2966:
2964:
2961:
2960:
2957:
2954:
2953:
2951:
2949:
2943:
2939:
2932:
2927:
2925:
2920:
2918:
2913:
2912:
2909:
2896:
2892:
2889:
2887:
2883:
2882:
2878:
2876:
2872:
2871:
2867:
2865:
2861:
2860:
2856:
2855:
2852:
2848:
2841:
2837:
2836:
2832:
2830:
2826:
2825:
2821:
2819:
2815:
2814:
2810:
2808:
2804:
2803:
2799:
2797:
2793:
2792:
2788:
2784:
2782:
2778:
2777:
2773:
2769:
2767:
2763:
2762:
2758:
2754:
2753:
2750:
2745:
2741:
2735:
2731:
2730:
2726:
2724:
2721:
2720:
2716:
2707:
2703:
2699:
2698:
2693:
2686:
2683:
2678:
2677:
2672:
2665:
2662:
2649:
2645:
2639:
2636:
2631:
2627:
2623:
2619:
2615:
2611:
2608:(3): 87–110.
2607:
2603:
2596:
2593:
2588:
2582:
2578:
2577:
2569:
2566:
2553:
2549:
2543:
2540:
2535:
2531:
2527:
2523:
2519:
2515:
2511:
2507:
2506:
2501:
2497:
2493:
2487:
2484:
2479:
2475:
2471:
2467:
2463:
2459:
2452:
2449:
2444:
2440:
2435:
2430:
2426:
2422:
2418:
2411:
2408:
2403:
2399:
2395:
2391:
2388:(18): 944–9.
2387:
2383:
2375:
2372:
2367:
2363:
2359:
2355:
2351:
2347:
2343:
2339:
2335:
2331:
2324:
2321:
2316:
2312:
2308:
2304:
2297:
2294:
2289:
2285:
2281:
2277:
2273:
2269:
2265:
2261:
2254:
2251:
2238:
2233:
2229:
2225:
2221:
2214:
2211:
2206:
2200:
2196:
2189:
2187:
2183:
2178:
2174:
2168:
2165:
2160:
2156:
2151:
2146:
2142:
2138:
2134:
2127:
2124:
2119:
2115:
2110:
2105:
2101:
2097:
2093:
2086:
2083:
2078:
2074:
2069:
2064:
2060:
2056:
2052:
2045:
2042:
2037:
2033:
2029:
2025:
2021:
2017:
2013:
2009:
2002:
1999:
1994:
1990:
1986:
1982:
1978:
1974:
1967:
1965:
1961:
1956:
1952:
1948:
1944:
1940:
1936:
1932:
1928:
1921:
1918:
1913:
1909:
1904:
1899:
1896:(9): 3236–8.
1895:
1891:
1887:
1880:
1877:
1872:
1868:
1864:
1860:
1857:(3): 148–62.
1856:
1852:
1844:
1841:
1836:
1832:
1828:
1824:
1820:
1816:
1808:
1805:
1800:
1796:
1792:
1788:
1784:
1780:
1777:(5): 427–31.
1776:
1772:
1765:
1762:
1757:
1753:
1749:
1745:
1741:
1737:
1733:
1729:
1722:
1719:
1714:
1710:
1706:
1702:
1698:
1694:
1691:(3): e710-5.
1690:
1686:
1678:
1675:
1670:
1666:
1661:
1656:
1652:
1648:
1644:
1640:
1636:
1628:
1626:
1624:
1620:
1615:
1611:
1607:
1603:
1598:
1593:
1589:
1585:
1581:
1573:
1570:
1565:
1561:
1557:
1553:
1549:
1545:
1544:RadioGraphics
1537:
1535:
1531:
1526:
1522:
1517:
1512:
1508:
1504:
1500:
1492:
1489:
1484:
1480:
1476:
1472:
1468:
1464:
1456:
1453:
1448:
1444:
1440:
1436:
1432:
1428:
1424:
1420:
1416:
1409:
1406:
1401:
1397:
1392:
1387:
1383:
1379:
1375:
1371:
1367:
1360:
1357:
1352:
1348:
1344:
1340:
1336:
1332:
1328:
1324:
1317:
1315:
1313:
1311:
1307:
1302:
1298:
1294:
1290:
1286:
1282:
1278:
1274:
1266:
1263:
1258:
1254:
1249:
1244:
1240:
1236:
1232:
1225:
1222:
1217:
1213:
1208:
1203:
1198:
1193:
1189:
1185:
1181:
1174:
1172:
1168:
1163:
1159:
1154:
1149:
1145:
1141:
1137:
1133:
1129:
1125:
1121:
1114:
1111:
1106:
1102:
1097:
1092:
1088:
1084:
1080:
1076:
1072:
1065:
1063:
1059:
1054:
1050:
1045:
1040:
1035:
1030:
1026:
1022:
1018:
1011:
1008:
1003:
999:
995:
991:
987:
983:
982:Endocrinology
976:
973:
968:
964:
959:
954:
950:
946:
942:
938:
934:
927:
924:
919:
915:
910:
905:
901:
897:
893:
886:
883:
878:
874:
870:
866:
862:
858:
854:
850:
843:
840:
835:
831:
827:
823:
819:
815:
811:
807:
800:
798:
796:
794:
792:
790:
788:
786:
784:
782:
778:
773:
769:
765:
761:
757:
753:
749:
745:
738:
735:
722:
718:
712:
709:
696:
692:
686:
684:
680:
673:
669:
666:
664:
661:
659:
656:
654:
651:
648:
644:
640:
637:
634:
630:
626:
623:
621:
618:
616:
612:
608:
605:
603:
600:
599:
595:
591:
588:
587:
583:
581:
579:
578:
573:
569:
567:
566:Quentin Costa
563:
562:
553:
551:
545:
544:women's sport
541:
537:
536:
527:
522:
520:
518:
517:clitoromegaly
509:
507:
504:
503:self-identify
500:
496:
491:
489:
485:
484:kwolu-aatmwol
481:
477:
473:
468:
461:
459:
457:
453:
449:
444:
437:
435:
431:
428:
422:
418:
411:
409:
407:
403:
399:
395:
391:
389:
385:
381:
375:
372:
369:will exclude
368:
364:
360:
354:
347:
345:
341:
339:
335:
331:
326:
324:
320:
316:
312:
308:
305:Two of three
300:
298:
296:
292:
288:
284:
280:
277:(5αR2) is an
276:
269:
267:
265:
261:
257:
253:
249:
245:
242:
238:
234:
230:
226:
222:
218:
214:
210:
206:
202:
198:
190:
188:
185:
183:
178:
176:
172:
168:
164:
160:
156:
152:
148:
144:
139:
137:
134:
131:encoding the
130:
126:
125:
120:
116:
113:
109:
100:
96:
92:
87:
81:
78:
76:
72:
68:
64:
61:
57:
53:
49:
44:
40:
36:
31:
19:
3779:Hypogonadism
3484:Vas deferens
3145:Cytochrome b
3093:
3071:
3058:
3019:
2986:
2890:
2879:
2868:
2857:
2833:
2822:
2811:
2800:
2785:
2770:
2755:
2727:
2723:OMIM article
2695:
2685:
2676:The Guardian
2674:
2664:
2652:. Retrieved
2648:the Guardian
2647:
2638:
2605:
2601:
2595:
2579:. Springer.
2575:
2568:
2556:. Retrieved
2554:. 2014-09-11
2542:
2509:
2503:
2486:
2461:
2457:
2451:
2424:
2420:
2410:
2385:
2381:
2374:
2333:
2329:
2323:
2306:
2302:
2296:
2266:(4): 293–8.
2263:
2259:
2253:
2241:. Retrieved
2227:
2223:
2213:
2194:
2176:
2167:
2140:
2136:
2126:
2099:
2095:
2085:
2058:
2054:
2044:
2011:
2007:
2001:
1976:
1972:
1933:(3): 24–35.
1930:
1926:
1920:
1893:
1889:
1879:
1854:
1850:
1843:
1818:
1814:
1807:
1774:
1770:
1764:
1731:
1727:
1721:
1688:
1684:
1677:
1642:
1638:
1587:
1583:
1572:
1547:
1543:
1506:
1502:
1491:
1466:
1462:
1455:
1422:
1418:
1408:
1373:
1369:
1359:
1326:
1322:
1276:
1272:
1265:
1238:
1234:
1224:
1187:
1183:
1127:
1123:
1113:
1078:
1074:
1024:
1020:
1010:
985:
981:
975:
940:
936:
926:
899:
895:
885:
852:
848:
842:
809:
805:
747:
743:
737:
727:December 11,
725:. Retrieved
720:
711:
701:December 11,
699:. Retrieved
694:
643:testosterone
625:5α-Reductase
575:
570:
559:
557:
533:
531:
513:
495:third gender
492:
483:
469:
465:
462:Epidemiology
445:
441:
434:questioned.
432:
423:
419:
415:
398:genitography
392:
376:
355:
351:
342:
327:
311:chromosome 2
304:
283:testosterone
273:
252:Gynecomastia
248:Virilization
246:
229:epididymides
194:
186:
179:
175:virilization
143:testosterone
140:
122:
117:caused by a
107:
106:
63:biosynthesis
60:testosterone
56:Biochemistry
3537:Hypospadias
3117:Sex steroid
3060:aldosterone
3048:(including
3021:desmosterol
2979:cholesterol
2654:26 December
812:: 206–211.
695:MedlinePlus
568:had 5-ARD.
359:Karyotyping
213:hypospadias
163:hypospadias
38:Other names
3898:Categories
3680:Testicular
3552:Micropenis
3542:Epispadias
3411:Monorchism
3149:deficiency
2946:Mevalonate
2824:DiseasesDB
2558:2 February
2243:24 October
2204:0465077145
1685:Pediatrics
1329:(1): 1–8.
1027:: 530121.
674:References
476:güevedoces
412:Management
367:leukocytes
323:amino acid
217:micropenis
205:homozygous
167:micropenis
159:phenotypes
3688:Enzymatic
3562:Diphallia
3182:estrogens
3127:androgens
3077:cortisone
2859:eMedicine
2835:SNOMED CT
2734:eMedicine
2630:146517414
2512:: g2926.
2309:: 53–95.
1756:146495456
1190:: 83–96.
577:Middlesex
438:Fertility
348:Diagnosis
317:and four
270:Mechanism
115:condition
75:Specialty
67:pathology
3557:Aphallia
3521:External
3393:Testicle
3285:Internal
3274:intersex
3073:cortisol
3036:Steroids
2881:Orphanet
2864:ped/1980
2840:57514000
2622:23035264
2526:24776640
2498:(2014).
2366:36427689
2315:13729828
2288:84664559
2177:BBC News
2159:21334614
2118:20493473
2028:23044880
1871:18947601
1835:21147889
1791:23044880
1748:16010463
1705:25092939
1669:28544750
1614:21141446
1606:17575501
1564:19001646
1525:23513070
1483:21147889
1447:19704336
1439:25942653
1400:26833836
1351:25945759
1343:20349245
1301:24236741
1257:29858846
1235:Hormones
1216:32346305
1053:22235201
877:54356569
869:12573814
834:26748233
826:27224879
772:31355974
764:18811725
639:Androgen
602:Intersex
596:See also
561:Nip/Tuck
330:deletion
307:isozymes
301:Genetics
155:prostate
119:mutation
3772:General
3652:Ovarian
3547:Chordee
2948:pathway
2895:Q858426
2891:Scholia
2818:C535830
2706:3805794
2534:2198650
2478:8262007
2402:4413434
2358:4432067
2338:Bibcode
2330:Science
2280:1831738
2077:9077378
2036:5289961
1993:4119318
1955:9669179
1947:3528648
1912:9745434
1799:5289961
1713:9316947
1660:5489130
1391:4785901
1293:8789759
1207:7167369
1162:1944596
1153:4451825
1132:Bibcode
1105:1522235
1044:3253436
1002:1505484
967:7688765
918:8550782
558:In the
510:History
319:introns
285:(T) to
171:puberty
145:(T) to
3384:Gonads
3341:Vagina
3266:Female
2807:264600
2766:LD2A.3
2704:
2628:
2620:
2583:
2532:
2524:
2476:
2443:240819
2441:
2400:
2364:
2356:
2313:
2286:
2278:
2201:
2157:
2116:
2075:
2034:
2026:
1991:
1953:
1945:
1910:
1869:
1833:
1797:
1789:
1754:
1746:
1711:
1703:
1667:
1657:
1612:
1604:
1562:
1523:
1481:
1445:
1437:
1398:
1388:
1349:
1341:
1299:
1291:
1255:
1214:
1204:
1160:
1150:
1124:Nature
1103:
1096:329933
1093:
1051:
1041:
1000:
965:
958:294929
955:
916:
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