{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T01:06:47Z","timestamp":1780621607539,"version":"3.54.1"},"reference-count":26,"publisher":"Walter de Gruyter GmbH","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,5,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2025-0612_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      46,XY differences of sex development (DSD) comprise a heterogeneous group of congenital conditions affecting chromosomal, gonadal or anatomical sex differentiation.\n                      <jats:italic>GATA4<\/jats:italic>\n                      is essential for cardiac and gonadal development, although its role in DSD is not fully understood. We report four 46,XY DSD cases with GATA4 variants from our center and performed a literature review.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0612_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      Case 1 presented with ambiguous genitalia, persistent M\u00fcllerian structures, and complex congenital heart disease; a\n                      <jats:italic>GATA4<\/jats:italic>\n                      variant (p.Cys239Arg) was identified, and gonadectomy revealed atrophic testes. Case 2 had penoscrotal hypospadias and a ventricular septal defect, carrying a synonymous\n                      <jats:italic>GATA4<\/jats:italic>\n                      variant (p.Cys275=) and showing normal hormonal evaluation and pubertal development. Case 3 presented with perineal hypospadias and a\n                      <jats:italic>GATA4<\/jats:italic>\n                      variant (p.Val305Ile), along with a maternally inherited\n                      <jats:italic>RET<\/jats:italic>\n                      mutation; his twin brother, carrying the same variants, had no DSD. Both exhibited spontaneous puberty. Case 4 presented with isolated hypospadias and a\n                      <jats:italic>GATA4<\/jats:italic>\n                      variant (p.Arg261GLn) without cardiac anomalies.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0612_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      <jats:italic>GATA4<\/jats:italic>\n                      should be included in genetic panels for 46,XY DSD. Our work expand the clinical and molecular spectrum of\n                      <jats:italic>GATA<\/jats:italic>\n                      <jats:italic>4<\/jats:italic>\n                      -associated 46,XY DSD and our review support the relevance of zinc finger domain variants in\u00a0gonadal development. Phenotypic variability among carriers supports variable expressivity and incomplete penetrance.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2025-0612","type":"journal-article","created":{"date-parts":[[2026,3,15]],"date-time":"2026-03-15T07:37:21Z","timestamp":1773560241000},"page":"482-489","source":"Crossref","is-referenced-by-count":0,"title":["<i>GATA4<\/i>\n                    gene variants in 46,XY differences of sex development: report of four cases and literature review"],"prefix":"10.1515","volume":"39","author":[{"given":"Maria","family":"Mans\u00f3 Borr\u00e0s","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology , Hospital Universitari i Polit\u00e8cnic La Fe , Val\u00e8ncia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Pellicer Viudes","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Hospital Universitari i Polit\u00e8cnic La Fe , Val\u00e8ncia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"De Mingo Alemany","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Hospital Universitari i Polit\u00e8cnic La Fe , Val\u00e8ncia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Le\u00f3n Cari\u00f1ena","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Hospital Universitari i Polit\u00e8cnic La Fe , Val\u00e8ncia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Jaijo Sanchis","sequence":"additional","affiliation":[{"name":"Department of Genetics and Prenatal Diagnosis , Hospital Universitari i Polit\u00e8cnic La Fe , Val\u00e8ncia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisca","family":"Moreno Maci\u00e1n","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Hospital Universitari i Polit\u00e8cnic La Fe , Val\u00e8ncia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,3,16]]},"reference":[{"key":"2026060500564548943_j_jpem-2025-0612_ref_001","doi-asserted-by":"crossref","unstructured":"Hughes, IA, Houk, C, Ahmed, SF, Lee, PA, Lawson Wilkins Pediatri, c Endocrine Society\/European Society for Paediatric Endocrinology Consensus Group. 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