{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T19:04:05Z","timestamp":1771959845298,"version":"3.50.1"},"reference-count":32,"publisher":"Walter de Gruyter GmbH","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,3,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2024-0352_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Differences of sex development (DSD) refer to various congenital conditions affecting the urogenital and hormonal systems. Accurate diagnosis and personalized management are crucial for supporting patients through complex decisions, such as those related to gender identity.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2024-0352_abs_002\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      This study represents the first comprehensive investigation into DSD in\u00a0Iran, analyzing patient\u2019s clinical and genetic data between 1991 and 2020. Karyotype analysis was performed on 69 patients without a molecular diagnosis, with sex chromosome DSD excluded. Presence of\n                      <jats:italic>SRY<\/jats:italic>\n                      gene evaluated in all sex reversal patients. Whole exome sequencing (WES) was used for 26 undiagnosed patients, revealing pathogenic variants in\n                      <jats:italic>WT1<\/jats:italic>\n                      ,\n                      <jats:italic>NR5A1<\/jats:italic>\n                      ,\n                      <jats:italic>DHX37<\/jats:italic>\n                      ,\n                      <jats:italic>AR<\/jats:italic>\n                      ,\n                      <jats:italic>CYP17A1<\/jats:italic>\n                      , and\n                      <jats:italic>LHCGR<\/jats:italic>\n                      genes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2024-0352_abs_101\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The most common diagnosis was testicular TDSD, identified in 42 patients (60.86\u202f%), with the\n                      <jats:italic>SRY<\/jats:italic>\n                      gene being the primary cause in 36 of these patients. The study highlights the importance of genetic analysis in identifying novel and rare gene variants, particularly within the steroid hormone and gonad differentiation pathways, for both 46, XY and 46, XX DSD.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2024-0352_abs_011\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p xml:lang=\"ca\">These findings emphasize the need for genetic analysis in providing personalized patient care and tailored counseling to help individuals navigate complex decisions, including those involving gender identity.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2024-0352","type":"journal-article","created":{"date-parts":[[2025,1,20]],"date-time":"2025-01-20T00:50:58Z","timestamp":1737334258000},"page":"279-287","source":"Crossref","is-referenced-by-count":1,"title":["Clinical and genetic diagnosis of first cohort of differences of sexual development in the Iranian population"],"prefix":"10.1515","volume":"38","author":[{"given":"Mandana","family":"Rastari","sequence":"first","affiliation":[{"name":"Department of Genetics, Reproductive Biomedicine Research Center , 48499 Royan Institute for Reproductive Biomedicine, ACECR , Tehran , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masomeh","family":"Askari","sequence":"additional","affiliation":[{"name":"Department of Genetics, Reproductive Biomedicine Research Center , 48499 Royan Institute for Reproductive Biomedicine, ACECR , Tehran , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenneth","family":"McElreavey","sequence":"additional","affiliation":[{"name":"Human Developmental Genetics , Institute Pasteur , Paris , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anu","family":"Bashamboo","sequence":"additional","affiliation":[{"name":"Human Developmental Genetics , Institute Pasteur , Paris , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeinab","family":"Rokhsattalab","sequence":"additional","affiliation":[{"name":"Department of Genetics, Reproductive Biomedicine Research Center , 48499 Royan Institute for Reproductive Biomedicine, ACECR , Tehran , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maryam","family":"Razzaghy-Azar","sequence":"additional","affiliation":[{"name":"Metabolic Disorders Research Center , Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences , Tehran , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahdieh","family":"Bakhshi","sequence":"additional","affiliation":[{"name":"Department of Genetics, Reproductive Biomedicine Research Center , 48499 Royan Institute for Reproductive Biomedicine, ACECR , Tehran , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehdi","family":"Totonchi","sequence":"additional","affiliation":[{"name":"Department of Genetics, Reproductive Biomedicine Research Center , 48499 Royan Institute for Reproductive Biomedicine, ACECR , Tehran , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,1,21]]},"reference":[{"key":"2026022418115250558_j_jpem-2024-0352_ref_001","doi-asserted-by":"crossref","unstructured":"Capel, B. 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