{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T13:10:57Z","timestamp":1789132257629,"version":"build-2803163510"},"reference-count":89,"publisher":"Oxford University Press (OUP)","issue":"19","license":[{"start":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T00:00:00Z","timestamp":1789084800000},"content-version":"vor","delay-in-days":253,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["GNT2025619"],"award-info":[{"award-number":["GNT2025619"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["GNT2025619"],"award-info":[{"award-number":["GNT2025619"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100020071","name":"Cybec Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100020071","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Rebecca L. Cooper Foundation"},{"name":"Australia Awards Scholarship"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,9,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Differences of sex development (DSD) are a group of rare congenital conditions defined by atypical chromosomal, gonadal, and\/or hormonal sex. Despite advances in massively parallel sequencing (MPS), more than half of DSD cases have an unknown genetic aetiology. We recruited and analysed 21 individuals with 46,XY DSD from the Greater Middle East population using chromosomal microarray and whole exome sequencing. Participants had DSD ranging from micropenis to anorchia (absence of testes) with extra-genital features reported in four individuals (19%). Using a combination of microarray and WES, a genetic diagnosis (variants curated as likely pathogenic or pathogenic) was identified in 12\/21 (57%) individuals. Microarray analysis showed two DSD participants with extra genital features had chromosomal abnormalities (48,XXXY and mosaic Y chromosomal rearrangement). Microarray also indicated a high degree of consanguinity, with extensive long contiguous stretches of homozygosity (LCSH) (&amp;gt;3% of the genome) in 6\/21 (28.6%) individuals, all of whom received a genetic diagnosis. WES analysis revealed variants in the NR5A1 (three individuals), SRD5A2 (three individuals), TALDO1 (one individual) and AR (two individuals) genes. This includes the novel frameshift variant, c.1309del (p.Leu437Cysfs*59), in NR5A1. This study contributes to the characterisation of clinical features and molecular findings in individuals with DSD in this understudied and homogenous population and highlights the challenges with DSD diagnosis in the region. The genetic diagnoses identified may contribute to improved patient care and management.<\/jats:p>","DOI":"10.1093\/hmg\/ddag089","type":"journal-article","created":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T11:11:07Z","timestamp":1788520267000},"source":"Crossref","is-referenced-by-count":0,"title":["Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population"],"prefix":"10.1093","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0667-8985","authenticated-orcid":false,"given":"Firman P","family":"Idris","sequence":"first","affiliation":[{"name":"Department of Paediatrics, The University of Melbourne , 50 Flemington Road, Parkville, 3052, Melbourne ,","place":["Australia"]},{"name":"The Murdoch Children's Research Institute , 50 Flemington Road, Parkville, 3052, Melbourne ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tara Hussein","family":"Tayeb","sequence":"additional","affiliation":[{"name":"Sulaimani University College of Medicine , Sulaimani New, Street 27, Zone 209 Sulaymaniyah ,","place":["Iraq"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gorjana","family":"Robevska","sequence":"additional","affiliation":[{"name":"The Murdoch Children's Research Institute , 50 Flemington Road, Parkville, 3052, Melbourne ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalid Hama Salih H","family":"Sharef","sequence":"additional","affiliation":[{"name":"Sulaimani University College of Medicine , Sulaimani New, Street 27, Zone 209 Sulaymaniyah ,","place":["Iraq"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dalya Bikhtiyar","family":"Jalal","sequence":"additional","affiliation":[{"name":"Dr. Jamal Ahmad Rasyid's Paediatric Teaching Hospital , Qanat Street, Sulaymaniyah ,","place":["Iraq"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jocelyn","family":"van den Bergen","sequence":"additional","affiliation":[{"name":"The Murdoch Children's Research Institute , 50 Flemington Road, Parkville, 3052, Melbourne ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7705-7425","authenticated-orcid":false,"given":"Gabby","family":"Atlas","sequence":"additional","affiliation":[{"name":"The Murdoch Children's Research Institute , 50 Flemington Road, Parkville, 3052, Melbourne ,","place":["Australia"]},{"name":"The Royal Children\u2019s Hospital , 50 Flemington Road, Parkville, 3052, Melbourne ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrina M","family":"Bell","sequence":"additional","affiliation":[{"name":"The Murdoch Children's Research Institute , 50 Flemington Road, Parkville, 3052, Melbourne ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8455-7778","authenticated-orcid":false,"given":"Tiong Yang","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, The University of Melbourne , 50 Flemington Road, Parkville, 3052, Melbourne ,","place":["Australia"]},{"name":"The Murdoch Children's Research Institute , 50 Flemington Road, Parkville, 3052, Melbourne ,","place":["Australia"]},{"name":"The Royal Children\u2019s Hospital , 50 Flemington Road, Parkville, 3052, Melbourne ,","place":["Australia"]},{"name":"Victorian Clinical Genetics Services , 50 Flemington Road, Parkville, 3052, Melbourne ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew H","family":"Sinclair","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, The University of Melbourne , 50 Flemington Road, Parkville, 3052, Melbourne ,","place":["Australia"]},{"name":"The Murdoch Children's Research Institute , 50 Flemington Road, Parkville, 3052, Melbourne ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6840-3186","authenticated-orcid":false,"given":"Katie L","family":"Ayers","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, The University of Melbourne , 50 Flemington Road, Parkville, 3052, Melbourne ,","place":["Australia"]},{"name":"The Murdoch Children's Research Institute , 50 Flemington Road, Parkville, 3052, Melbourne ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,9,11]]},"reference":[{"key":"2026091108534572000_ref1","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1016\/j.beem.2007.11.001","article-title":"Disorders of sex development: a new definition and 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