{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T11:38:06Z","timestamp":1769341086701,"version":"3.49.0"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,5,25]],"date-time":"2017-05-25T00:00:00Z","timestamp":1495670400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["R01 HD068138"],"award-info":[{"award-number":["R01 HD068138"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NIH5T32GM007454"],"award-info":[{"award-number":["NIH5T32GM007454"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>Sex assignment at birth remains one of the most clinically challenging and controversial topics in 46,XY disorders of sexual development (DSD). This is particularly challenging in deficiency of 5\u2010alpha reductase type 2 given that external genitalia are typically undervirilized at birth but typically virilize at puberty to a variable degree. Historically, most individuals with 5\u2010alpha reductase deficiency were raised females. However, reports that over half of patients who underwent a virilizing puberty adopted an adult male gender identity have challenged this practice. Consensus guidelines on assignment of sex of rearing at birth are equivocal or favor male assignment in the most virilized cases. While a male sex of rearing assignment may avoid lifelong hormonal therapy and\/or allow the potential for fertility, female sex assignment may be more consistent with external anatomy in the most severely undervirilized cases. Herein, we describe five patients with 46,XY DSD due 5\u2010alpha\u2010reductase type 2 deficiency, all with a severe phenotype. An inter\u2010disciplinary DSD medical team at one of two academic centers evaluated each patient. This case series illustrates the complicated decision\u2010making process of assignment of sex of rearing at birth in 5\u2010alpha reductase type 2 deficiency and the challenges that arise when the interests of the child, parental wishes, recommendations of the medical team, and state law collide.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.c.31560","type":"journal-article","created":{"date-parts":[[2017,5,25]],"date-time":"2017-05-25T17:23:21Z","timestamp":1495733001000},"page":"260-267","source":"Crossref","is-referenced-by-count":24,"title":["Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5\u2010alpha reductase type 2 deficiency"],"prefix":"10.1002","volume":"175","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9971-1368","authenticated-orcid":false,"given":"Heather M.","family":"Byers","sequence":"first","affiliation":[{"name":"Division of Medical Genetics University of Washington Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren H.","family":"Mohnach","sequence":"additional","affiliation":[{"name":"DSD Program Department of Pediatrics University of Michigan Ann Arbor Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia Y.","family":"Fechner","sequence":"additional","affiliation":[{"name":"Division of Endocrinology Seattle Children's Hospital Seattle Washington"},{"name":"Division of Pediatric Psychology Seattle Children's Hospital Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming","family":"Chen","sequence":"additional","affiliation":[{"name":"Division of Endocrinology Department of Pediatrics University of Michigan Ann Arbor Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inas H.","family":"Thomas","sequence":"additional","affiliation":[{"name":"Division of Endocrinology Department of Pediatrics University of Michigan Ann Arbor Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda A.","family":"Ramsdell","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine Seattle Children's Hospital Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margarett","family":"Shnorhavorian","sequence":"additional","affiliation":[{"name":"Division of Urology Seattle Children's Hospital Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9763-9262","authenticated-orcid":false,"given":"Elizabeth A.","family":"McCauley","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavior Medicine University of Washington Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne\u2010Marie E.","family":"Amies Oelschlager","sequence":"additional","affiliation":[{"name":"Division of Adolescent Gynecology Seattle Children's Hospital Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Urology University of Michigan Ann Arbor Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7389-8283","authenticated-orcid":false,"given":"David E.","family":"Sandberg","sequence":"additional","affiliation":[{"name":"Division of Pediatric Psychology Department of Pediatrics University of Michigan Ann Arbor Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9817-5121","authenticated-orcid":false,"given":"Margaret P.","family":"Adam","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics University of Washington Seattle Washington"},{"name":"Division of Genetic Medicine Seattle Children's Hospital Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7780-6542","authenticated-orcid":false,"given":"Catherine E.","family":"Keegan","sequence":"additional","affiliation":[{"name":"Division of Genetics Department of Pediatrics University of Michigan Ann Arbor Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,5,25]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-10-0930"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10508-005-4339-4"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0032-1324727"},{"key":"e_1_2_11_5_1","unstructured":"Disability Rights Washington. 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