{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T20:24:39Z","timestamp":1774643079718,"version":"3.50.1"},"reference-count":14,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sex Dev"],"published-print":{"date-parts":[[2022]]},"abstract":"<jats:p>Introduction: Disorders of gonadal development represent a clinically and genetically heterogeneous group of DSD, and the etiology in many cases remains unknown, indicating that our knowledge of factors controlling sex determination is still limited. Methods: We describe a 46,XY DSD patient from Egypt. The patient was reared as female, born to consanguineous parents, and was referred to us at the age of 5 years because of ambiguous genitalia. On examination, the girl was microcephalic (head circumference \u20133 SD), but her height and weight were normal for her age and sex. Results: Exome sequencing identified a homozygous variant in the hedgehog acyltransferase (HHAT) gene, which encodes an enzyme that is required for multimerization and signaling potency of the hedgehog secreted proteins. The variant is a novel homozygous missense change c.1329C&gt;A (p.N443K), located within transmembrane domain 9, which segregated with the phenotype in the family. Discussion\/Conclusion: Our results expand the phenotypic spectrum associated with HHAT variants to include 46,XY gonadal dysgenesis and reinforce the role of exome sequencing in unraveling new genes that play a pivotal role in sexual development. <\/jats:p>","DOI":"10.1159\/000520366","type":"journal-article","created":{"date-parts":[[2022,1,19]],"date-time":"2022-01-19T22:00:35Z","timestamp":1642629635000},"page":"261-265","source":"Crossref","is-referenced-by-count":6,"title":["A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis"],"prefix":"10.1159","volume":"16","author":[{"given":"Inas","family":"Mazen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alaa","family":"Kamel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenneth","family":"McElreavey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anu","family":"Bashamboo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aya","family":"Elaidy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed S.","family":"Abdel-Hamid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2022,1,19]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61133"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0112687"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2019.11.110"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1159\/000485507"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12932"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/s0960-9822(02)00480-3"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0011195"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004340"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2017.05.009"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M114.625764"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb.3032"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0000000000000275"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.01103"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-1314"}],"container-title":["Sexual Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/sxd\/article-pdf\/16\/4\/261\/3914938\/000520366.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/sxd\/article-pdf\/16\/4\/261\/3914938\/000520366.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:28:48Z","timestamp":1745422128000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000520366"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022]]},"references-count":14,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2023,2,10]]},"published-print":{"date-parts":[[2023,2,14]]}},"URL":"https:\/\/doi.org\/10.1159\/000520366","archive":["Portico"],"relation":{},"ISSN":["1661-5425","1661-5433"],"issn-type":[{"value":"1661-5425","type":"print"},{"value":"1661-5433","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022]]}}}