{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T20:08:54Z","timestamp":1772136534444,"version":"3.50.1"},"reference-count":16,"publisher":"Walter de Gruyter GmbH","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,9,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2024-0156_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Lipoid congenital adrenal hyperplasia (LCAH) is a rare autosomal recessive disease caused by mutations in the steroidogenic acute regulatory protein (\n                      <jats:italic>STAR<\/jats:italic>\n                      ) gene, expressed in the adrenal and gonadal tissues. In classical LCAH, individuals with 46, XY chromosomes present with a female appearance of the external genitalia due to insufficient androgen production. In the non-classical form, a milder phenotype is observed with male external genitalia. Here, we present a non-classical LCAH diagnosis with a newly identified c.266T&gt;A (p.Ile89Asn) likely pathogenic homozygous variant in a 46, XY infant.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2024-0156_abs_003\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>A three-month-and-thirteen-day-old male proband presented with clinical features of cortisol and mineralocorticoid deficiencies. The manifestation of salt-wasting syndrome occurred relatively late, and although the external genitalia appeared male, there was a mild virilization defect. The combination of mild impairment in androgen production and severe salt-wasting syndrome is an intriguing finding in our patient. Peripheral blood samples were obtained from the patient and his family. The newly identified variant, determined by next-generation sequencing analysis, was confirmed by segregation analysis showing carrier status in both parents.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2024-0156_abs_004\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>We aim to contribute to the literature by elucidating molecular mechanisms by presenting an atypical presentation and a newly identified variant.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2024-0156","type":"journal-article","created":{"date-parts":[[2024,7,23]],"date-time":"2024-07-23T01:48:01Z","timestamp":1721699281000},"page":"835-839","source":"Crossref","is-referenced-by-count":1,"title":["A novel variant of the\n                    <i>STAR<\/i>\n                    gene: nonclassical presentation from Turkey"],"prefix":"10.1515","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8385-4049","authenticated-orcid":false,"given":"Emel Hatun","family":"Ayta\u00e7 Kaplan","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology , Basaksehir Cam and Sakura City Hospital , Istanbul , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2432-9279","authenticated-orcid":false,"given":"Alper","family":"Gezdirici","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Basaksehir Cam ve Sakura City Hospital , Istanbul , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7335-1272","authenticated-orcid":false,"given":"Z\u00fcmr\u00fct","family":"Kocabey S\u00fct\u00e7\u00fc","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Basaksehir Cam and Sakura City Hospital , Istanbul , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2234-3536","authenticated-orcid":false,"given":"Ezgi","family":"G\u00f6kpinar \u0130li","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Basaksehir Cam ve Sakura City Hospital , Istanbul , T\u00fcrkiye"},{"name":"Department of Medical Genetics , Ankara University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2024,7,24]]},"reference":[{"key":"2026022619314839235_j_jpem-2024-0156_ref_001","doi-asserted-by":"crossref","unstructured":"Hauffa, BP, Miller, WL, Grumbach, MM, Conte, FA, Kaplan, SL. Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20, 22-desmolase) in a patient treated for 18 years. Clin Endocrinol 1985;23:481\u201393. https:\/\/doi.org\/10.1111\/j.1365-2265.1985.tb01107.x.","DOI":"10.1111\/j.1365-2265.1985.tb01107.x"},{"key":"2026022619314839235_j_jpem-2024-0156_ref_002","doi-asserted-by":"crossref","unstructured":"Lin, D, Sugawara, T, Strauss, JF3rd, Clark, BJ, Stocco, DM, Saenger, P, et al.. Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. Science 1995;267:1828\u201331. https:\/\/doi.org\/10.1126\/science.7892608.","DOI":"10.1126\/science.7892608"},{"key":"2026022619314839235_j_jpem-2024-0156_ref_003","doi-asserted-by":"crossref","unstructured":"Khoury, K, Barbar, E, Ainmelk, Y, Ouellet, A, Lavigne, P, LeHoux, JG. Thirty-eight-year follow-up of two sibling lipoid congenital adrenal hyperplasia patients due to homozygous steroidogenic acute regulatory (STARD1) protein mutation. Molecular structure and modeling of the STARD1 L275P mutation. Front Neurosci 2016;10:527. https:\/\/doi.org\/10.3389\/fnins.2016.00527.","DOI":"10.3389\/fnins.2016.00527"},{"key":"2026022619314839235_j_jpem-2024-0156_ref_004","doi-asserted-by":"crossref","unstructured":"Baker, BY, Lin, L, Kim, CJ, Raza, J, Smith, CP, Miller, WL, et al.. Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia. J Clin Endocrinol Metab 2006;91:4781\u20135. https:\/\/doi.org\/10.1210\/jc.2006-1565.","DOI":"10.1210\/jc.2006-1565"},{"key":"2026022619314839235_j_jpem-2024-0156_ref_005","doi-asserted-by":"crossref","unstructured":"Gassner, HL, Toppari, J, Quinteiro Gonzalez, S, Miller, WL. Near-miss apparent SIDS from adrenal crisis. J Pediatr 2004;145:178\u201383. https:\/\/doi.org\/10.1016\/j.jpeds.2004.04.052.","DOI":"10.1016\/j.jpeds.2004.04.052"},{"key":"2026022619314839235_j_jpem-2024-0156_ref_006","doi-asserted-by":"crossref","unstructured":"Ahmed, SF, Khwaja, O, Hughes, IA. The role of a clinical score in the assessment of ambiguous genitalia. BJU Int 2000;85:120\u20134. https:\/\/doi.org\/10.1046\/j.1464-410x.2000.00354.x.","DOI":"10.1046\/j.1464-410x.2000.00354.x"},{"key":"2026022619314839235_j_jpem-2024-0156_ref_007","doi-asserted-by":"crossref","unstructured":"Richards, S, Aziz, N, Bale, S, Bick, D, Das, S, Gastier-Foster, J, et al.. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405\u201323. https:\/\/doi.org\/10.1038\/gim.2015.30.","DOI":"10.1038\/gim.2015.30"},{"key":"2026022619314839235_j_jpem-2024-0156_ref_008","doi-asserted-by":"crossref","unstructured":"Bose, HS, Sugawara, T, Strauss, IIIJF, Miller, WL. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. N Engl J Med 1996;335:1870\u20138. https:\/\/doi.org\/10.1056\/nejm199612193352503.","DOI":"10.1056\/NEJM199612193352503"},{"key":"2026022619314839235_j_jpem-2024-0156_ref_009","doi-asserted-by":"crossref","unstructured":"Zhao, X, Su, Z, Liu, X, Song, J, Gan, Y, Wen, P, et al.. Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a STAR gene mutation. BMC Endocr Disord 2018;18:78. https:\/\/doi.org\/10.1186\/s12902-018-0307-6.","DOI":"10.1186\/s12902-018-0307-6"},{"key":"2026022619314839235_j_jpem-2024-0156_ref_010","unstructured":"Ruimin, C, Xin, Y, Ying, Z, Xiaohong, Y, Xiangquan, L. Mutation analysis of steroid acute regulatory protein gene in a patient affected with congenital lipoid adrenal hyperplasia. Chinese J Endocrinol Metab 2014;30:980\u20134."},{"key":"2026022619314839235_j_jpem-2024-0156_ref_011","unstructured":"Qiu, WJ, Ye, J, Han, B, Han, LS, Gu, XF. Molecular genetic analysis of congenital lipoid adrenal hyperplasia. Zhonghua Er Ke Za Zhi 2004;42:585\u20138."},{"key":"2026022619314839235_j_jpem-2024-0156_ref_012","doi-asserted-by":"crossref","unstructured":"Bakkar, AA, Alsaedi, A, Kamal, NM, Althobaiti, E, Aboulkhair, LA, Almalki, AM, et al.. Lipoid congenital adrenal hyperplasia with a novel StAR gene mutation. Clin Med Insights Endocrinol Diabetes 2023:16. https:\/\/doi.org\/10.1177\/11795514231167059.","DOI":"10.1177\/11795514231167059"},{"key":"2026022619314839235_j_jpem-2024-0156_ref_013","doi-asserted-by":"crossref","unstructured":"Kaur, J, Casas, L, Bose, HS. Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient. Endocrinol Diab Metabol Case Rep 2016;2016:150119. https:\/\/doi.org\/10.1530\/edm-15-0119.","DOI":"10.1530\/EDM-15-0119"},{"key":"2026022619314839235_j_jpem-2024-0156_ref_014","doi-asserted-by":"crossref","unstructured":"Chen, X, Baker, BY, Abduljabbar, MA, Miller, WL. A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings. J\u00a0Clin Endocrinol Metab 2005;90:835\u201340. https:\/\/doi.org\/10.1210\/jc.2004-1323.","DOI":"10.1210\/jc.2004-1323"},{"key":"2026022619314839235_j_jpem-2024-0156_ref_015","doi-asserted-by":"crossref","unstructured":"Ishii, T, Tajima, T, Kashimada, K, Mukai, T, Tanahashi, Y, Katsumata, N, et al.. Clinical features of 57 patients with lipoid congenital adrenal\u00a0hyperplasia: criteria for nonclassic form revisited. J Clin Endocrinol Metab 2020;105. https:\/\/doi.org\/10.1210\/clinem\/dgaa557.","DOI":"10.1210\/clinem\/dgaa557"},{"key":"2026022619314839235_j_jpem-2024-0156_ref_016","doi-asserted-by":"crossref","unstructured":"Lu, W, Zhang, T, Zhang, L, Wang, X, Lv, S, Wang, J, et al.. Clinical characteristics of a male child with non-classic lipoid congenital adrenal hyperplasia and literature review. 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