{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T08:32:19Z","timestamp":1789979539630,"version":"4.0.1"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,5,15]],"date-time":"2017-05-15T00:00:00Z","timestamp":1494806400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000071","name":"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\/100000071","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>Investigation of disorders of sex development (DSD) has resulted in the discovery of multiple sex\u2010determining genes. <jats:italic>MAP3K1<\/jats:italic> encodes a signal transduction regulator in the sex determination pathway and is emerging as one of the more common genes responsible for 46,XY DSD presenting as complete or partial gonadal dysgenesis. Clinical assessment, endocrine evaluation, and genetic analysis were performed in six individuals from four unrelated families with 46,XY DSD. All six individuals were found to have likely pathogenic <jats:italic>MAP3K1<\/jats:italic> variants. Three of these individuals presented with complete gonadal dysgenesis, characterized by bilateral streak gonads with typical internal and external female genitalia, while the other three presented with partial gonadal dysgenesis, characterized by incomplete testicular development, resulting in clitoral hypertrophy with otherwise typical female external genitalia. Testing for <jats:italic>MAP3K1<\/jats:italic> variants should be considered in patients with 46,XY complete or partial gonadal dysgenesis, particularly in families with multiple members affected with 46,XY DSD. Identification of a <jats:italic>MAP3K1<\/jats:italic> variant should prompt an evaluation for DSD in female siblings of the proband.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.c.31559","type":"journal-article","created":{"date-parts":[[2017,5,15]],"date-time":"2017-05-15T11:54:07Z","timestamp":1494849247000},"page":"253-259","source":"Crossref","is-referenced-by-count":50,"title":["<i>MAP3K1<\/i>\u2010related gonadal dysgenesis: Six new cases and review of the literature"],"prefix":"10.1002","volume":"175","author":[{"given":"Andrea","family":"Granados","sequence":"first","affiliation":[{"name":"Department of Pediatrics Division of Endocrinology University of Michigan  Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronica I.","family":"Alaniz","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University of Michigan  Ann Arbor 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