{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T16:47:30Z","timestamp":1791823650332,"version":"4.3.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T00:00:00Z","timestamp":1791763200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T00:00:00Z","timestamp":1791763200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sex Dev"],"abstract":"<jats:p>Background: A genetic diagnosis is essential for patients with disorders of sex development (DSD) in order to provide appropriate counseling and sex assignment. Therefore, a molecular diagnosis was made for DSD patients who were seen at our institute during 2002-2020. Methods: Molecular diagnosis was performed using: polymerase chain reaction (PCR) for the SRY gene in 46,XX DSD patients; Sanger sequencing of the SRD5A2 and AR genes in 46,XY DSD patients; and next generation sequencing (NGS) of a 46-gene panel in patients without definite diagnoses. Patients with hypogonadotropic hypogonadism and 21-hydroxylase-deficient congenital adrenal hyperplasia were excluded. Results: A total of 150 patients with 46,XY DSD underwent genetic testing for the SRD5A2 gene (n=142) or the AR gene (n=121) or both (n=114). Eighteen patients had homozygous or compound heterozygous mutation in the SRD5A2 gene and 13 patients had hemizygous mutation in the AR gene. One hundred and two patients (46,XY DSD, n=92; 46,XX DSD, n=10) had DNA testing for NGS. Seven patients with 46,XY DSD were found to carry pathogenic or likely pathogenic variants in DSD-related genes: heterozygous variants in the WT1 gene (n=3); heterozygous variants in the SRD5A2 gene (n=2); and hemizygous variant in the MAMLD1 gene (n=2). Thirty-three patients were found to carry only variants of unknown significance (VUS) in DSD-related genes. Two out of six patients with 46,XX ovotesticular DSD were found to carry an SRY gene (one detected by SRY PCR and one by NGS). Conclusion: In our cohort, 5\u03b1-reductase type 2 deficiency and androgen insensitivity syndrome were common causes of 46,XY DSD, followed by monoallelic mutations in the WT1, SRD5A2 and MAMLD1 genes.<\/jats:p>","DOI":"10.1159\/sxd\/aerag005","type":"journal-article","created":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T11:45:24Z","timestamp":1791546324000},"source":"Crossref","is-referenced-by-count":0,"title":["Genetic Causes of Disorders of Sex Development in Thai Children"],"prefix":"10.1159","author":[{"given":"Jeerunda","family":"Santiprabhob","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chanin","family":"Limwongse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sirinya","family":"Boontanapibul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1525-8699","authenticated-orcid":false,"given":"Supitcha","family":"Patjamontri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekkapong","family":"Roothumnong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yupin","family":"Phujomjai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Praewvarin","family":"Weerakulwattana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wanna","family":"Thongnoppakhun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Panee","family":"Nakthong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peerawat","family":"Dungort","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ornsuda","family":"Lertbannaphong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mongkol","family":"Laohapensang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monawat","family":"Ngerncham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ravit","family":"Ruangtrakool","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuenjai","family":"Chuangsuwanich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2026,10,12]]},"container-title":["Sexual Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/sxd\/aerag005","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T16:02:42Z","timestamp":1791820962000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/sxd\/aerag005"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,12]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/sxd\/aerag005","archive":["Portico"],"relation":{},"ISSN":["1661-5425","1661-5433"],"issn-type":[{"value":"1661-5425","type":"print"},{"value":"1661-5433","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10,12]]}}}