{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:04:22Z","timestamp":1790813062410,"version":"4.1.0"},"reference-count":50,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2014,2,1]],"date-time":"2014-02-01T00:00:00Z","timestamp":1391212800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,2,1]],"date-time":"2014-02-01T00:00:00Z","timestamp":1391212800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,5,27]],"date-time":"2022-05-27T00:00:00Z","timestamp":1653609600000},"content-version":"vor","delay-in-days":3037,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,2,1]],"date-time":"2014-02-01T00:00:00Z","timestamp":1391212800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2014,2,1]],"date-time":"2014-02-01T00:00:00Z","timestamp":1391212800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2014,2,1]],"date-time":"2014-02-01T00:00:00Z","timestamp":1391212800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2014,2,1]],"date-time":"2014-02-01T00:00:00Z","timestamp":1391212800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2014,2,1]],"date-time":"2014-02-01T00:00:00Z","timestamp":1391212800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","fertstert.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Fertility and Sterility"],"published-print":{"date-parts":[[2014,2]]},"DOI":"10.1016\/j.fertnstert.2013.11.128","type":"journal-article","created":{"date-parts":[[2014,1,8]],"date-time":"2014-01-08T05:45:27Z","timestamp":1389159927000},"page":"310-316","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":70,"title":["The effect of 5\u03b1-reductase-2 deficiency on human fertility"],"prefix":"10.1016","volume":"101","author":[{"given":"Hey-Joo","family":"Kang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julianne","family":"Imperato-McGinley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan-Shan","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zev","family":"Rosenwaks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.fertnstert.2013.11.128_bib1","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/S0303-7207(02)00368-4","article-title":"Androgens and male physiology the syndrome of 5alpha-reductase-2 deficiency","volume":"198","author":"Imperato-McGinley","year":"2002","journal-title":"Mol Cell Endocrinol"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib2","first-page":"380","article-title":"5 alpha-reduced androgens play a key role in murine parturition","volume":"10","author":"Mahendroo","year":"1996","journal-title":"Mol Endocrinol"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib3","first-page":"577","article-title":"Steroid 5 alpha-reductase 2 deficiency","volume":"14","author":"Wilson","year":"1993","journal-title":"Endocr Rev"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib4","unstructured":"Cooper DN, Ball EV, Stenson PD, Phillips AD, Howells K, Mort ME. Institute of Medical Genetics in Cardiff. The human gene mutation database. Available at: http:\/\/www.hgmd.org\/. Accessed September 15, 2013."},{"key":"10.1016\/j.fertnstert.2013.11.128_bib5","series-title":"Hormones, brain and behavior","first-page":"2787","article-title":"Disorders in male sexual differentiation: molecular genetics, gender identity, and cognition","volume":"vol. 5","author":"Zhu","year":"2009"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib6","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.1126\/science.186.4170.1213","article-title":"Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism","volume":"186","author":"Imperato-McGinley","year":"1974","journal-title":"Science"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib7","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1111\/j.1365-2265.1991.tb03769.x","article-title":"A cluster of male pseudohermaphrodites with 5\u03b1-reductase deficiency in Papua New Guinea","volume":"34","author":"Imperato-McGinley","year":"1991","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib8","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1172\/JCI115954","article-title":"The molecular genetics of steroid 5 \u03b1-reductase 2 deficiency","volume":"90","author":"Thigpen","year":"1992","journal-title":"J Clin Invest"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib9","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1056\/NEJM199210223271706","article-title":"The molecular basis of steroid 5 \u03b1-reductase deficiency in a large Dominican kindred","volume":"327","author":"Thigpen","year":"1992","journal-title":"N Engl J Med"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib10","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/0002-9343(86)90262-7","article-title":"Familial male pseudohermaphroditism in a Turkish village due to 5\u03b1-reductase deficiency","volume":"81","author":"Akgun","year":"1986","journal-title":"Am J Med"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib11","first-page":"560","article-title":"The identification of 5\u03b1-reductase-2 and 17\u03b2 hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred","volume":"83","author":"Can","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib12","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1016\/0022-4731(79)90329-7","article-title":"Antagonist action of dihydroprogesterone on the formation of the specific dihydrotestosterone-cytoplasmic receptor complex in rat ventral prostate","volume":"10","author":"Wright","year":"1979","journal-title":"J Steroid Biochem"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib13","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/0002-9343(76)90175-3","article-title":"Male pseudohermaphroditism: complexities of male sexual development","volume":"61","author":"Imperato-McGinley","year":"1976","journal-title":"Am J Med"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib14","first-page":"1022","article-title":"Prostate visualization studies in males homozygous and heterozygous for 5\u03b1-reductase deficiency","volume":"75","author":"Imperato-McGinley","year":"1992","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib15","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1056\/NEJM199210223271701","article-title":"The effect of finasteride in men with benign prostatic hyperplasia","volume":"327","author":"Gormley","year":"1992","journal-title":"N Engl J Med"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib16","first-page":"555","article-title":"Clinical dose ranging studies with Finasteride, a type 2 5\u03b1-reductase inhibitor, in men with male pattern hair loss","volume":"41","author":"Roberts","year":"1999","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib17","first-page":"3160","article-title":"The biochemical and phenotypic characterization of females homozygous for 5 alpha-reductase-2 deficiency","volume":"80","author":"Katz","year":"1995","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib18","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1210\/jcem-63-6-1313","article-title":"The diagnosis of 5\u03b1-reductase deficiency in infancy","volume":"63","author":"Imperato-McGinley","year":"1986","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib19","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1159\/000313372","article-title":"Difficulties in diagnosis and treatment of 5alpha-reductase type 2 deficiency in a newborn with 46,XY DSD","volume":"74","author":"Walter","year":"2010","journal-title":"Horm Res Paediatr"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib20","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1111\/j.1365-2265.1985.tb00181.x","article-title":"Urinary steroid metabolites in subjects with male pseudohermaphroditism due to 5\u03b1-reductase deficiency","volume":"23","author":"Peterson","year":"1985","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib21","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1056\/NEJM197905313002201","article-title":"Androgens and the evolution of male-gender identity among male pseudohermaphrodites with 5\u03b1-reductase deficiency","volume":"300","author":"Imperato-McGinley","year":"1979","journal-title":"N Engl J Med"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib22","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1210\/jcem-50-1-15","article-title":"Steroid 5\u03b1-reductase deficiency in a 65-year old male pseudohermaphrodite: the natural history, ultrastructure of the testes and evidence for inherited enzyme heterogeneity","volume":"50","author":"Imperato-McGinley","year":"1980","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib23","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1097\/00019616-199407000-00009","article-title":"The syndrome of 5\u03b1-reductase deficiency","volume":"4","author":"Fratianni","year":"1994","journal-title":"The Endocrinologist"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib24","unstructured":"Gajdusek D. Congenital absence of the penis in Muniri and Simbari Kukukuku people of New Guinea. In: Program and abstracts of the American Pediatric Society, 74th Annual Meeting, June 16\u201318, 1964. Abstract 128, p.\u00a0138."},{"key":"10.1016\/j.fertnstert.2013.11.128_bib25","series-title":"Journals 1957\u20131976. Eighteen volumes (with specific field data on Simbari male pseudohermaphrodites)","author":"Gajdusek","year":"1959-1989"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib26","series-title":"Health and disease in tribal societies. CIBA Symposium 49 (New Series)","first-page":"69","article-title":"Urgent opportunistic observations: the study of changing, transient, and disappearing phenomena of medical interest in disrupted primitive human communities","author":"Gajdusek","year":"1977"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib27","series-title":"Kuru: early letters and field notes from the collection of D","author":"Farquhar","year":"1981"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib28","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/BF01542051","article-title":"The Sambia \u201cTurnim-Man\u201d: sociocultural and clinical aspects of gender formation in male pseudohermaphrodites with 5a-reductase deficiency in Papua, New Guinea","volume":"17","author":"Herdt","year":"1988","journal-title":"Arch Sex Behav"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib29","first-page":"7","article-title":"Male pseudohermahroditism due to 5 alpha-reductase-deficiency","volume":"11","author":"Loludice","year":"1986","journal-title":"Min Endocrinol"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib30","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1097\/00005792-199603000-00003","article-title":"Male pseudohermaphroditism due to steroid 5alpha-reductase 2 deficiency. Diagnosis, psychological evaluation, and management","volume":"75","author":"Mendonca","year":"1996","journal-title":"Medicine (Baltimore)"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib31","first-page":"71","article-title":"Male pseudohermaphroditism due to deficiency of steroid 5\u03b1-reductase enzyme","volume":"11","author":"Mulaisho","year":"1990","journal-title":"Saudi Med J"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib32","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/BF03347803","article-title":"Male pseudohermaphroditism due to primary 5 alpha-reductase deficiency: variation in gender identity reversal in seven Mexican patients from five different pedigrees","volume":"18","author":"M\u00e9ndez","year":"1995","journal-title":"J Endocrinol Invest"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib33","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1016\/S0306-4530(96)00032-7","article-title":"Gender identity and role in a pedigree of Arabs with intersex due to 5 alpha reductase-2 deficiency","volume":"21","author":"Al-Attia","year":"1996","journal-title":"Psychoneuroendocrinology"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib34","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1111\/j.1365-2265.1980.tb02727.x","article-title":"Familial male pseudohermaphroditism due to deficiency of 5 alpha-reductase","volume":"12","author":"Savage","year":"1980","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib35","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1007\/BF00441984","article-title":"Male pseudohermaphroditism due to 5 alpha-reductase deficiency in a Swedish family","volume":"147","author":"Ivarsson","year":"1988","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib36","first-page":"379","article-title":"Suchak R.5 alpha reductase deficiency causing male pseudohermaphroditism","volume":"23","author":"Patel","year":"1986","journal-title":"Indian Pediatr"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib37","first-page":"2821","article-title":"Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency","volume":"81","author":"Hochberg","year":"1996","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib38","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1007\/s10508-005-4339-4","article-title":"Gender change in 46, XY persons with 5alpha-reductase-2 deficiency and 17beta-hydroxysteroid dehydrogenase-3 deficiency","volume":"34","author":"Cohen-Kettenis","year":"2005","journal-title":"Arch Sex Behav"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib39","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1210\/jcem-71-2-318","article-title":"Variable expression of 5\u03b1-reductase deficiency: presentation with male phenotype in a child of Greek origin","volume":"71","author":"Carpenter","year":"1990","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib40","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1055\/s-0032-1324727","article-title":"DSD due to 5\u03b1-reductase 2 deficiency\u2014from diagnosis to long-term outcome","volume":"30","author":"Costa","year":"2012","journal-title":"Semin Reprod Med"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib41","first-page":"3236","article-title":"Molecular characterization of 5\u03b1-reductase type 2 deficiency and fertility in a Swedish family","volume":"83","author":"Nordenskj\u00f6ld","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib42","first-page":"409","article-title":"Dihydrotestosterone regulation of semen in male pseudohermaphrodites with 5\u03b1-reductase-2 deficiency","volume":"79","author":"Cai","year":"1994","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib43","doi-asserted-by":"crossref","first-page":"1116","DOI":"10.1016\/j.juro.2008.05.063","article-title":"Differences in testicular development between 5alpha-reductase 2 deficiency and isolated bilateral cryptorchidism","volume":"180","author":"Hadziselimovic","year":"2008","journal-title":"J Urol"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib44","first-page":"117","article-title":"Morphology of the testis and the epididymis in rats with dihydrotestosterone (DHT) deficiency","volume":"49 Suppl 1","author":"Kolasa","year":"2004","journal-title":"Rocz Akad Med Bialymst"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib45","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1002\/j.1939-4640.1999.tb02503.x","article-title":"Testosterone-dependent restoration of spermatogenesis in adult rats is impaired by a 5alpha-reductase inhibitor","volume":"20","author":"O'Donnell","year":"1999","journal-title":"J Androl"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib46","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1196\/annals.1336.023","article-title":"The androgen microenvironment of the human testis and hormonal control of spermatogenesis","volume":"1061","author":"Jarow","year":"2005","journal-title":"Ann N Y Acad Sci"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib47","doi-asserted-by":"crossref","first-page":"2343","DOI":"10.1210\/en.2009-1333","article-title":"Direct action through the Sertoli cells is essential for androgen stimulation of spermatogenesis","volume":"151","author":"O'Shaughnessy","year":"2010","journal-title":"Endocrinology"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib48","doi-asserted-by":"crossref","first-page":"1659","DOI":"10.1210\/jc.2006-2203","article-title":"The effect of 5alpha-reductase inhibition with dutasteride and finasteride on semen parameters and serum hormones in healthy men","volume":"92","author":"Amory","year":"2007","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib49","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1056\/NEJM199704033361404","article-title":"Paternity by intrauterine insemination with sperm from a man with 5\u03b1-reductase-2 deficiency","volume":"336","author":"Katz","year":"1997","journal-title":"N Engl J Med"},{"key":"10.1016\/j.fertnstert.2013.11.128_bib50","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.fertnstert.2011.01.121","article-title":"The first successful paternity through in\u00a0vitro fertilization-intracytoplasmic sperm injection with a man homozygous for the 5\u03b1-reductase-2 gene mutation","volume":"95","author":"Kang","year":"2011","journal-title":"Fertil Steril"}],"container-title":["Fertility and Sterility"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0015028213033888?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0015028213033888?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T17:59:09Z","timestamp":1773251949000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0015028213033888"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2]]},"references-count":50,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,2]]}},"alternative-id":["S0015028213033888"],"URL":"https:\/\/doi.org\/10.1016\/j.fertnstert.2013.11.128","relation":{},"ISSN":["0015-0282"],"issn-type":[{"value":"0015-0282","type":"print"}],"subject":[],"published":{"date-parts":[[2014,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The effect of 5\u03b1-reductase-2 deficiency on human fertility","name":"articletitle","label":"Article Title"},{"value":"Fertility and Sterility","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.fertnstert.2013.11.128","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}