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Clin Endocrinol (Oxf) 58: 627\u2013631.","DOI":"10.1046\/j.1365-2265.2003.01763.x"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11 Hiort O, Willenbring H, Albers N, Hecker W, Engert J, et al. (1996) Molecular genetic analysis and human chorionic gonadotropin stimulation tests in the diagnosis of prepubertal patients with partial 5 alpha-reductase deficiency. Eur J Pediatr 155: 445\u2013451.","DOI":"10.1007\/BF01955179"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12 Cheng J, Lin R, Zhang W, Liu G, Sheng H, et al. (2015) Phenotype and molecular characteristics in 45 Chinese children with 5alpha-reductase type 2 deficiency from South China. 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APMIS 106: 3\u201311; discussion 12.","journal-title":"Apmis","ISSN":"https:\/\/id.crossref.org\/issn\/0903-4641","issn-type":"print"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15 Verp MS, Simpson JL (1987) Abnormal sexual differentiation and neoplasia. Cancer Genet Cytogenet 25: 191\u2013218.","DOI":"10.1016\/0165-4608(87)90180-4"},{"key":"16","unstructured":"16 Simpson JL, Photopulos G (1976) The relationship of neoplasia to disorders of abnormal sexual differentiation. Birth Defects Orig Artic Ser 12: 15\u201350."},{"key":"17","doi-asserted-by":"crossref","unstructured":"17 Sasaki G, Nakagawa K, Hashiguchi A, Hasegawa T, Ogata T, et al. (2003) Giant seminoma in a patient with 5 alpha-reductase type 2 deficiency. J Urol 169: 1080\u20131081.","DOI":"10.1097\/01.ju.0000047621.66463.29"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18 Cheon CK (2011) Practical approach to steroid 5alpha-reductase type 2 deficiency. Eur J Pediatr 170: 1\u20138.","DOI":"10.1007\/s00431-010-1189-4"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19 Zhu H, Liu W, Han B, Fan M, Zhao S, et al. (2014) Phenotypic and molecular characteristics in eleven Chinese patients with 5alpha-reductase Type 2 deficiency. Clin Endocrinol (Oxf) 81: 711\u2013720.","DOI":"10.1111\/cen.12456"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20 Miller WL (2009) Androgen synthesis in adrenarche. Rev Endocr Metab Disord 10: 3\u201317.","DOI":"10.1007\/s11154-008-9102-4"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21 Seely J, Amigh KS, Suzuki T, Mayhew B, Sasano H, et al. (2005) Transcriptional regulation of dehydroepiandrosterone sulfotransferase (SULT2A1) by estrogen-related receptor alpha. Endocrinology 146: 3605\u20133613.","DOI":"10.1210\/en.2004-1619"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22 Maimoun L, Philibert P, Cammas B, Audran F, Bouchard P, et al. (2011) Phenotypical, biological, and molecular heterogeneity of 5alpha-reductase deficiency: an extensive international experience of 55 patients. J Clin Endocrinol Metab 96: 296\u2013307.","DOI":"10.1210\/jc.2010-1024"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23 Fernandez-Cancio M, Nistal M, Gracia R, Molina MA, Tovar JA, et al. (2004) Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin. J Androl 25: 412\u2013416.","DOI":"10.1002\/j.1939-4640.2004.tb02808.x"},{"key":"24","unstructured":"24 Kim SH, Kim KS, Kim GH, Kang BM, Yoo HW (2006) A novel frameshift mutation in the 5alpha-reductase type 2 gene in Korean sisters with male pseudohermaphroditism. Fertil Steril 85: 750 e9\u2013750 e12."},{"key":"25","doi-asserted-by":"crossref","unstructured":"25 Bahceci M, Ersay AR, Tuzcu A, Hiort O, Richter-Unruh A, et al. (2005) A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family. Urology 66: 407\u2013410.","DOI":"10.1016\/j.urology.2005.02.021"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26 Imperato-McGinley J, Zhu YS (2002) Androgens and male physiology the syndrome of 5alpha-reductase-2 deficiency. Mol Cell Endocrinol 198: 51\u201359.","DOI":"10.1016\/S0303-7207(02)00368-4"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27 Nie M, Zhou Q, Mao J, Lu S, Wu X (2011) Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development. Mol Hum Reprod 17: 57\u201362.","DOI":"10.1093\/molehr\/gaq072"},{"key":"28","doi-asserted-by":"crossref","unstructured":"28 Ko JM, Cheon CK, Kim GH, Kim SH, Kim KS, et al. (2010) Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency. Horm Res Paediatr 73: 41\u201348.","DOI":"10.1159\/000271915"},{"key":"29","doi-asserted-by":"crossref","unstructured":"29 Sahakitrungruang T, Wacharasindhu S, Yeetong P, Snabboon T, Suphapeetiporn K, et al. (2008) Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism. Fertil Steril 90: 2015 e11\u2013e15.","DOI":"10.1016\/j.fertnstert.2008.01.019"},{"key":"30","doi-asserted-by":"crossref","unstructured":"30 Vilchis F, Ramos L, Mendez JP, Benavides S, Canto P, et al. (2010) Molecular analysis of the SRD5A2 in 46,XY subjects with incomplete virilization: the P212R substitution of the steroid 5alpha-reductase 2 may constitute an ancestral founder mutation in Mexican patients. J Androl 31: 358\u2013364.","DOI":"10.2164\/jandrol.109.009407"},{"key":"31","doi-asserted-by":"crossref","unstructured":"31 Sasaki G, Ogata T, Ishii T, Kosaki K, Sato S, et al. (2003) Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients. J Clin Endocrinol Metab 88: 3431\u20133436.","DOI":"10.1210\/jc.2002-021415"},{"key":"32","doi-asserted-by":"crossref","unstructured":"32 Canto P, Vilchis F, Chavez B, Mutchinick O, Imperato-McGinley J, et al. (1997) Mutations of the 5 alpha-reductase type 2 gene in eight Mexican patients from six different pedigrees with 5 alpha-reductase-2 deficiency. Clin Endocrinol (Oxf) 46: 155\u2013160.","DOI":"10.1046\/j.1365-2265.1997.800904.x"},{"key":"33","doi-asserted-by":"crossref","unstructured":"33 Wigley WC, Prihoda JS, Mowszowicz I, Mendonca BB, New MI, et al. (1994) Natural mutagenesis study of the human steroid 5 alpha-reductase 2 isozyme. Biochemistry 33: 1265\u20131270.","DOI":"10.1021\/bi00171a029"},{"key":"34","doi-asserted-by":"crossref","unstructured":"34 Nagaraja MR, Rastogi A, Raman R, Gupta DK, Singh SK (2010) Molecular diagnosis of 46,XY DSD and identification of a novel 8 nucleotide deletion in exon 1 of the SRD5A2 gene. J Pediatr Endocrinol Metab 23: 379\u2013385.","DOI":"10.1515\/jpem.2010.059"},{"key":"35","doi-asserted-by":"crossref","unstructured":"35 Yang Y, Wang BA, Guo QH, Dou JT, Lv ZH, et al. (2012) Clinical and genetic analysis of three Chinese patients with steroid 5alpha-reductase type 2 deficiency. J Pediatr Endocrinol Metab 25: 1077\u20131082.","DOI":"10.1515\/jpem-2012-0115"},{"key":"36","doi-asserted-by":"crossref","unstructured":"36 Sahu R, Boddula R, Sharma P, Bhatia V, Greaves R, et al. (2009) Genetic analysis of the SRD5A2 gene in Indian patients with 5alpha-reductase deficiency. J Pediatr Endocrinol Metab 22: 247\u2013254.","DOI":"10.1515\/JPEM.2009.22.3.247"},{"key":"37","doi-asserted-by":"crossref","unstructured":"37 Vilchis F, Mendez JP, Canto P, Lieberman E, Chavez B (2000) Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency. 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