{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,30]],"date-time":"2025-05-30T07:10:06Z","timestamp":1748589006981,"version":"3.41.0"},"reference-count":15,"publisher":"Walter de Gruyter GmbH","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,6,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2024-0624_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>To describe the clinical and genetic profiles of eight patients diagnosed with Congenital Lipoid Adrenal Hyperplasia (CLAH) at a tertiary center in North India.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0624_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>A retrospective analysis of eight children with genetically confirmed CLAH diagnosed between January 2020 and June 2024 was conducted. Data on clinical presentation, anthropometry, biochemical parameters, genetic mutations, and treatment were reviewed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0624_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Seven patients exhibited the nonclassical phenotype, while one had the classical form. The median (IQR) age at symptom onset, presentation, and diagnosis was 2.50 (1.25\u20133.82) years, 5.40 (1.70\u20138.37) years, and 6.31 (4.20\u20139.12) years, respectively. Skin hyperpigmentation was observed in 100\u202f% of patients, failure to thrive in 75\u202f%, dehydration in 50\u202f%, seizures in 62.5\u202f%, and hypotension in 25\u202f%. Biochemical abnormalities included hyponatremia and hypoglycemia in 62.5\u202f% each, and hyperkalemia in 37.5\u202f% of cases. Genetic analysis identified missense variants in the STAR gene, with six patients carrying the p.Arg188Cys variant, suggesting a founder effect. All patients received glucocorticoid and mineralocorticoid replacement. None of the patients had genital ambiguity or hypogonadism.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0624_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Nonclassical CLAH appears to be more prevalent in the Indian population than previously recognized. Genetic testing facilitates accurate diagnosis and management in resource-limited settings. Lifelong follow-up is essential for monitoring pubertal and gonadal function.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2024-0624","type":"journal-article","created":{"date-parts":[[2025,4,19]],"date-time":"2025-04-19T10:08:42Z","timestamp":1745057322000},"page":"644-648","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and genetic insights into congenital lipoid adrenal hyperplasia: a case series from a tertiary care center in North India"],"prefix":"10.1515","volume":"38","author":[{"given":"Arun","family":"George","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Endocrinology and Diabetes Unit , 29751 Post Graduate Institute of Medical Education and Research , Chandigarh , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anvitha","family":"Rallapalli","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Post Graduate Institute of Medical Education and Research , Chandigarh , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pamali Mahasweta","family":"Nanda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Endocrinology and Diabetes Unit , 29751 Post Graduate Institute of Medical Education and Research , Chandigarh , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mrinalini","family":"Peters","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Genetic Metabolic Unit , Post Graduate Institute of Medical Education and Research , Chandigarh , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4191-3765","authenticated-orcid":false,"given":"Sayan","family":"Banerjee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Endocrinology and Diabetes Unit , 29751 Post Graduate Institute of Medical Education and Research , Chandigarh , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anju","family":"Bala","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Endocrinology and Diabetes Unit , 29751 Post Graduate Institute of Medical Education and Research , Chandigarh , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inusha","family":"Panigrahi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Genetic Metabolic Unit , Post Graduate Institute of Medical Education and Research , Chandigarh , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rakesh","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Post Graduate Institute of Medical Education and Research , Chandigarh , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaivinder","family":"Yadav","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Post Graduate Institute of Medical Education and Research , Chandigarh , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3279-6002","authenticated-orcid":false,"given":"Devi","family":"Dayal","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Endocrinology and Diabetes Unit , 29751 Post Graduate Institute of Medical Education and Research , Chandigarh , India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,4,21]]},"reference":[{"key":"2025053006390460971_j_jpem-2024-0624_ref_001","doi-asserted-by":"crossref","unstructured":"U\u00e7ar, A, Ba\u015f, F, Saka, N. 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Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia. J\u00a0Clin Endocrinol Metab 2006;91:4781\u20135. https:\/\/doi.org\/10.1210\/jc.2006-1565.","DOI":"10.1210\/jc.2006-1565"},{"key":"2025053006390460971_j_jpem-2024-0624_ref_005","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;16:1\u20136. https:\/\/doi.org\/10.1177\/11795514231167059.","DOI":"10.1177\/11795514231167059"},{"key":"2025053006390460971_j_jpem-2024-0624_ref_006","doi-asserted-by":"crossref","unstructured":"Metherell, LA, Naville, D, Halaby, G, Begeot, M, Huebner, A, N\u00fcrnberg, G, et al.. Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. 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