{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,15]],"date-time":"2025-02-15T11:10:15Z","timestamp":1739617815369,"version":"3.37.1"},"reference-count":15,"publisher":"Walter de Gruyter GmbH","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2024-0510_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>DNA ligase IV (LIG4) deficiency is a rare autosomal recessive disorder associated with impaired DNA damage-response mechanisms. LIG4 deficiency exhibits a broad clinical spectrum, including microcephaly, facial abnormalities, sensitivity to ionizing radiation, ranging from severe combined immunodeficiency to normal immune function, progressive bone marrow failure, and predisposition to malignancy.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0510_abs_002\">\n                  <jats:title>Case Presentation<\/jats:title>\n                  <jats:p>We report an 18-year-old girl of consanguineous Turkish parents, first evaluated at 13 years old for growth retardation and short stature. She was born\u00a0preterm at 32\u00a0weeks with dysmorphic facial features, lissencephaly, intellectual disability, and without immunodeficiency. Although diagnosed with growth hormone deficiency, she did not receive appropriate hormone therapy due to special circumstances. At the age of 15, she presented with primary amenorrhea. Further evaluation revealed hypergonadotropic hypogonadism due to gonadal failure. Genetic analysis revealed a homozygous c.2440C&gt;T (p.Arg814Ter) mutation in the LIG4 gene. Following genetic counseling, her parents opted for prenatal diagnosis in a subsequent pregnancy, resulting in the birth of another child with the same condition.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0510_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>LIG4 syndrome should be considered in the differential diagnosis of cases with growth retardation, microcephaly, and gonadal failure. In the literature, there are limited cases reported with gonadal failure in LIG4 syndrome. Here, we emphasize this aspect to highlight its significance.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2024-0510","type":"journal-article","created":{"date-parts":[[2025,2,15]],"date-time":"2025-02-15T10:46:58Z","timestamp":1739616418000},"source":"Crossref","is-referenced-by-count":0,"title":["DNA ligase IV deficiency identified in a patient with hypergonadotropic hypogonadism: a case report"],"prefix":"10.1515","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3403-165X","authenticated-orcid":false,"given":"Deniz","family":"Yasar","sequence":"first","affiliation":[{"name":"General Pediatrics , Etlik City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3886-3808","authenticated-orcid":false,"given":"Abdullah","family":"Sezer","sequence":"additional","affiliation":[{"name":"Medical Genetics , Etlik City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2921-5270","authenticated-orcid":false,"given":"Caner","family":"Aytekin","sequence":"additional","affiliation":[{"name":"Pediatric Immunology and Allergy , Dr. Sami Ulus Children\u2019s Health and Diseases Training and Research Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7506-1711","authenticated-orcid":false,"given":"G\u00fclin","family":"Karacan K\u00fc\u00e7\u00fckali","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology , Etlik City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4161-2631","authenticated-orcid":false,"given":"Beyhan","family":"\u00d6zkaya D\u00f6nmez","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology , Etlik City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4403-2381","authenticated-orcid":false,"given":"Asl\u0131han","family":"Arasl\u0131 Y\u0131lmaz","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology , Etlik City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7944-3351","authenticated-orcid":false,"given":"\u0130clal","family":"Okur","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology , Etlik City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2821-3038","authenticated-orcid":false,"given":"Behiye","family":"Sar\u0131kaya \u00d6zdemir","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology , Etlik City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1814-3216","authenticated-orcid":false,"given":"Erdal","family":"Kurnaz","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology , Etlik City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2713-3618","authenticated-orcid":false,"given":"Melik\u015fah","family":"Keskin","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology , Etlik City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4164-5089","authenticated-orcid":false,"given":"\u015eenay","family":"Sava\u015f Erdeve","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology , Etlik City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,2,17]]},"reference":[{"key":"2025021510464789745_j_jpem-2024-0510_ref_001","doi-asserted-by":"crossref","unstructured":"Altmann, T, Gennery, AR. 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