References
- Khorashad BS, Roshan GM, Reid AG, Aghili Z, Hiradfar M, Afkhamizadeh M, Talaei A, Aarabi A, Ghaemi N, Taghehchian N, et al. Sexual orientation and medical history among Iranian people with complete androgen insensitivity syndrome and congenital adrenal hyperplasia. J Psychosomatic Res. 2017;92:55–62. doi:https://doi.org/10.1016/j.jpsychores.2016.12.002.
- Hughes IA. Disorders of sex development: a new definition and classification. Best Pract Res Clin Endocrinol Metabol. 2008;22(1):119–34. doi:https://doi.org/10.1016/j.beem.2007.11.001.
- Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. Archiv Dis Childhood. 2006;91(7):554–63. doi:https://doi.org/10.1136/adc.2006.098319.
- Tsai M-C, Chou Y-Y, Lin S-J, Tsai L-P. A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia. Kaohsiung J Med Sci. 2012;28(4):231–5. doi:https://doi.org/10.1016/j.kjms.2011.10.011.
- Andersson S, Geissler WM, Wu L, Davis DL, Grumbach MM, New MI, Schwarz HP, Blethen SL, Mendonca BB, Bloise W, et al. Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab. 1996;81(1):130–6. doi:https://doi.org/10.1210/jcem.81.1.8550739.
- Geissler WM, Davis DL, Wu L, Bradshaw KD, Patel S, Mendonca BB, Elliston KO, Wilson JD, Russell DW, Andersson S, et al. Male pseudohermaphroditism caused by mutations of testicular 17β–hydroxysteroid dehydrogenase 3. Nat Genet. 1994;7(1):34–9. doi:https://doi.org/10.1038/ng0594-34.
- Mendonca BB, Gomes NL, Costa EMF, Inacio M, Martin RM, Nishi MY, Carvalho FM, Tibor FD, Domenice S. 46, XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency. J Steroid Biochem Mol Biol. 2017;165:79–85. doi:https://doi.org/10.1016/j.jsbmb.2016.05.002.
- Phelan N, Williams EL, Cardamone S, Lee M, Creighton SM, Rumsby G, Conway GS. Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46, XY disorders of sex development. Eur J Endocrinol. 2015;172(6):745–51. doi:https://doi.org/10.1530/EJE-14-0994.
- Boehmer ALM, Brinkmann AO, Sandkuijl LA, Halley DJJ, Niermeijer MF, Andersson S, de Jong FH, Kayserili H, de Vroede MA, Otten BJ, et al. 17β-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations. J Clin Endocrinol Metabol. 1999;84(12):4713–21. doi:https://doi.org/10.1210/jcem.84.12.6174.
- Akcay T, Fernandez‐Cancio M, Turan S, Güran T, Audi L, Bereket A. AR and SRD 5A2 gene mutations in a series of 51 Turkish 46, XY DSD children with a clinical diagnosis of androgen insensitivity. Andrology. 2014;2(4):572–8. doi:https://doi.org/10.1111/j.2047-2927.2014.00215.x.
- Walter KN, Kienzle FB, Frankenschmidt A, Hiort O, Wudy SA, van der Werf-Grohmann N, Superti-Furga A, Schwab KO. Difficulties in diagnosis and treatment of 5alpha-reductase type 2 deficiency in a newborn with 46,XY DSD. Horm Res Paediatr. 2010;74(1):67–71. doi:https://doi.org/10.1159/000313372.
- Okeigwe I, Kuohung W. 5-Alpha reductase deficiency: a 40-year retrospective review. Curr Opin Endocrinol Diabetes Obesity. 2014;21(6):483–7. doi:https://doi.org/10.1097/MED.0000000000000116.
- Fernández-Cancio M, Audí L, Andaluz P, Torán N, Piró C, Albisu M, Gussinyé M, Yeste D, Clemente M, Martínez-Mora J, et al. SRD5A2 gene mutations and polymorphisms in Spanish 46, XY patients with a disorder of sex differentiation. Int J Androl. 2011;34(6pt2):e526–e35. doi:https://doi.org/10.1111/j.1365-2605.2010.01136.x.
- Alswailem MM, Alzahrani OS, Alghofaili L, Qasem E, Almohanaa M, Alsagheir A, Bin Abbas B, Attia NA, Al Shaikh A, Alzahrani AS, et al. Molecular genetics and phenotype/genotype correlation of 5-alpha reductase deficiency in a highly consanguineous population. Endocrine. 2019;63(2):361–8. doi:https://doi.org/10.1007/s12020-018-1767-1.
- George MM, New MI, Ten S, Sultan C, Bhangoo A. The clinical and molecular heterogeneity of 17βHSD-3 enzyme deficiency. Horm Res Paediatr. 2010;74(4):229–40. doi:https://doi.org/10.1159/000318004.
- Omrani M, Adamovic T, Grandell U, Saleh-Gargari S, Nordenskjöld A. 17-β-hydroxysteroid dehydrogenase type 3 deficiency in three adult Iranian siblings. Sex Dev. 2011;5(6):273–6. doi:https://doi.org/10.1159/000335006.
- Prehn C, Möller G, Adamski J. Recent advances in 17beta-hydroxysteroid dehydrogenases. J Steroid Biochem Mol Biol. 2009;114(1-2):72–7. doi:https://doi.org/10.1016/j.jsbmb.2008.12.024.
- Moghrabi N, Hughes IA, Dunaif A, Andersson S. Deleterious missense mutations and silent polymorphism in the human 17β-hydroxysteroid dehydrogenase 3 gene (HSD17B3). J Clin Endocrinol Metabol. 1998;83(8):2855–60. doi:https://doi.org/10.1210/jcem.83.8.5052.
- Yang Z, Ye L, Wang W, Zhao Y, Wang W, Jia H, Dong Z, Chen Y, Wang W, Ning G, et al. 17β-Hydroxysteroid dehydrogenase 3 deficiency: Three case reports and a systematic review. J Steroid Biochem Mol Biol. 2017;174:141–5. doi:https://doi.org/10.1016/j.jsbmb.2017.08.012.
- Hiort O, Marshall L, Birnbaum W, Wünsch L, Holterhus P-M, Döhnert U, Werner R. Pubertal development in 17Beta-hydroxysteroid dehydrogenase type 3 deficiency. Horm Res Paediatr. 2017;87(5):354–8. doi:https://doi.org/10.1159/000453613.
- Chávez B, Ramos L, Gómez R, Vilchis F. 46, XY disorder of sexual development resulting from a novel monoallelic mutation (p. Ser31Phe) in the steroid 5α‐reductase type‐2 (SRD5A2) gene. Mol Genet Genomic Med. 2014;2(4):292–6. doi:https://doi.org/10.1002/mgg3.76.
- Byers HM, Mohnach LH, Fechner PY, Chen M, Thomas IH, Ramsdell LA, Shnorhavorian M, McCauley EA, Amies Oelschlager A-ME, Park JM, et al. Unexpected ethical dilemmas in sex assignment in 46, XY DSD due to 5‐alpha reductase type 2 deficiency. Am J Med Genet. 2017;175(2):260–7., editors. Wiley Online Library. doi:https://doi.org/10.1002/ajmg.c.31560.
- Thai HTT, Kalbasi M, Lagerstedt K, Frisén L, Kockum I, Nordenskjöld A. The valine allele of the V89L polymorphism in the 5-α-reductase gene confers a reduced risk for hypospadias. J Clin Endocrinol Metabol. 2005;90(12):6695–8. doi:https://doi.org/10.1210/jc.2005-0446.
- Sata F, Kurahashi N, Ban S, Moriya K, Tanaka KD, Ishizuka M, Nakao H, Yahata Y, Imai H, Kakizaki H, et al. Genetic polymorphisms of 17β‐hydroxysteroid dehydrogenase 3 and the risk of hypospadias. J Sexual Med. 2010;7(8):2729–38. doi:https://doi.org/10.1111/j.1743-6109.2009.01641.x.
- Pasterski V, Prentice P, Hughes IA. Consequences of the Chicago consensus on disorders of sex development (DSD): current practices in Europe. Archiv Dis Childhood. 2010;95(8):618–23. doi:https://doi.org/10.1136/adc.2009.163840.
- Tishelman AC, Kaufman R, Edwards-Leeper L, Mandel FH, Shumer DE, Spack NP. Serving transgender youth: challenges, dilemmas, and clinical examples. Prof Psychol: Res Pract. 2015;46(1):37–45. doi:https://doi.org/10.1037/a0037490.