{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T19:44:30Z","timestamp":1771962270652,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,9,28]],"date-time":"2020-09-28T00:00:00Z","timestamp":1601251200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Disorders of sex development (DSD) can result from congenital defect in sex determining pathway. Mitogen\u2010activated protein kinase kinase kinase 1 (<jats:italic>MAP3K1<\/jats:italic>) is one of the commonest genes that has been identified to cause 46, XY DSD. It can present as complete or partial gonadal dysgenesis even within the same kindred. Few mutations in this gene have previously been identified in a high proportion of individuals with 46, XY gonadal dysgenesis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and Results<\/jats:title><jats:p>We report three siblings with same novel variant in <jats:italic>MAP3K1<\/jats:italic> gene presenting with variable degrees of partial gonadal dysgenesis. Clinical and genetic assessments were performed for the three siblings, while endocrine evaluation was done for two of them. The identified mutation (p.Thr657Arg) was previously classified as a pathogenic variant, although apparently there are no reported humans with this mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This report adds to the genotype\u2010phenotype correlation, highlighting the clinical importance of considering <jats:italic>MAP3K1<\/jats:italic> gene defects as part of the differential diagnosis for complete or partial gonadal dysgenesis especially with multiple affected family members.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1514","type":"journal-article","created":{"date-parts":[[2020,9,28]],"date-time":"2020-09-28T16:09:38Z","timestamp":1601309378000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A novel missense heterozygous mutation in <i>MAP3K1<\/i> gene causes 46, XY disorder of sex development: case report and literature review"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8757-7782","authenticated-orcid":false,"given":"Aisha","family":"Al Shamsi","sequence":"first","affiliation":[{"name":"Genetic Division Pediatrics Department Tawam Hospital  Al Ain United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0657-7543","authenticated-orcid":false,"given":"Noura","family":"Al Hassani","sequence":"additional","affiliation":[{"name":"Endocrine Division Pediatrics Department Tawam Hospital  Al Ain United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moustafa","family":"Hamchou","sequence":"additional","affiliation":[{"name":"Pediatric surgery Division Surgery Department Tawam Hospital  Al Ain United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raya","family":"Almazrouei","sequence":"additional","affiliation":[{"name":"Endocrine Division Internal Medicine Department Tawam Hospital  Al Ain United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aziz","family":"Mhanni","sequence":"additional","affiliation":[{"name":"Department of Pediatrics &amp; Child Health Max Rady College of Medicine Rady Faculty of Health Sciences University of Manitoba  Winnipeg Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,9,28]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-2605"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz002"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.4103\/0971-6866.124372"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s1305\u200b9-016-1105-y"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31559"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.14341\/\u200bprobl\u200b8596"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/00044\u200b2975"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213\u200b-8587(18)30339\u200b-5"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt502"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/1687-9856-2014-4"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2012.235"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-3690"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.11.003"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2019.144072"}],"container-title":["Molecular Genetics &amp; 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