{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T20:54:41Z","timestamp":1782852881023,"version":"3.54.5"},"reference-count":8,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:bold>Objectives.<\/jats:bold>\n                    The aim of the present study was 1) to describe the phenotypic spectrum of non-21-alfa-hydroxylase deficiency (non-21-OHD) congenital adrenal hyperplasia (CAH) encountered in a tertiary care endocrine center; 2) to identify the key biochemical, hormonal, and genetic markers that aid in differentiating non-21-OHD CAH subtypes; 3) to highlight the diagnostic challenges faced in distinguishing non-21-OHD CAH from classic 21OHD CAH and other adrenal disorders; and 4) to discuss the clinical implications and management challenges associated with non-21-OHD CAH.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Methods.<\/jats:bold>\n                    A retrospective analysis identified 13 cases of non-21-OHD CAH out of 87 CAH patients between 2008 to 2022. Clinical, biochemical, imaging and genetic data were analyzed. The diagnosis was confirmed by hormonal assays and next-generation sequencing (NGS)-based genetic analysis.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Results.<\/jats:bold>\n                    Of the 13 cases, six patients had 11\u03b2-hydroxylase deficiency (11\u03b2-OHD), primarily presenting with precocious puberty, hypertension, and hyperpigmentation, with elevated ACTH, 17-hydroxyprogesterone (17-OHP), and suppressed renin levels. Three patients with 3\u03b2-hydroxysteroid dehydrogenase type 2 (3\u03b2-HSD2) deficiency were diagnosed in early infancy following salt-wasting crises. 17\u03b1-hydroxylase deficiency (17\u03b1-OHD) was diagnosed in three adolescent females presenting with primary amenorrhea, tall stature, hypertension, and elevated gonadotropins. One case of StAR deficiency was diagnosed at 45 days of life, presenting with adrenal crisis and severe adrenal insufficiency.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Conclusion.<\/jats:bold>\n                    Non-21-OHD CAH presents diagnostic challenges due to its varied clinical spectrum. Hypertension and hypokalemia are key differentiators for 11\u03b2-OHD and 17\u03b1-OHD, while steroid profiling (LC-MS) aids in diagnosing 3\u03b2-HSD2 deficiency. However, the most crucial aspect is the early diagnosis, which is a significant factor in preventing complications like hypertensive cardiomyopathy and adrenal crises.\n                  <\/jats:p>","DOI":"10.2478\/enr-2025-0015","type":"journal-article","created":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T08:11:44Z","timestamp":1756455104000},"page":"135-140","source":"Crossref","is-referenced-by-count":2,"title":["Phenotypic spectrum and diagnostic challenges in non-21-alpha-hydroxylase deficiency congenital adrenal hyperplasia: a case series from a tertiary care center"],"prefix":"10.2478","volume":"59","author":[{"given":"Anand","family":"Sheya","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism , Sri Ramachandra Institute of Higher Education and Research , Chennai , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nayana Tara","family":"Vasireddy","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism , Sri Ramachandra Institute of Higher Education and Research , Chennai , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shriraam","family":"Mahadevan","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism , Sri Ramachandra Institute of Higher Education and Research , Chennai , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asha","family":"Ranjan","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism , Sri Ramachandra Institute of Higher Education and Research , Chennai , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adlyne Reena","family":"Asirvatham","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism , Sri Ramachandra Institute of Higher Education and Research , Chennai , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sai Namratha","family":"Gogineni","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism , Sri Ramachandra Institute of Higher Education and Research , Chennai , India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2025,8,28]]},"reference":[{"key":"2026063014595202728_j_enr-2025-0015_ref_001","doi-asserted-by":"crossref","unstructured":"Al Alawi AM, Nordenstrom A, Falhammar H. Clinical perspectives in congenital adrenal hyperplasia due to 3\u03b2-hydroxysteroid dehydrogenase type 2 deficiency. Endocrine 63, 407\u2013421, 2019.","DOI":"10.1007\/s12020-018-01835-3"},{"key":"2026063014595202728_j_enr-2025-0015_ref_002","doi-asserted-by":"crossref","unstructured":"Asirvatham AR, Balachandran K, Jerome P, Venkatesan V, Koshy T, Mahadevan S. Clinical, biochemical and genetic characteristics of children with congenital adrenal hyperplasia due to 17\u03b1-hydroxylase deficiency. J Pediatr Endocrinol Metab 2020.","DOI":"10.1515\/jpem-2020-0050"},{"key":"2026063014595202728_j_enr-2025-0015_ref_003","doi-asserted-by":"crossref","unstructured":"Dabas A, Bothra M, Kapoor S. CAH newborn screening in India: challenges and opportunities. Int J Neonatal Screen 6, 70, 2020.","DOI":"10.3390\/ijns6030070"},{"key":"2026063014595202728_j_enr-2025-0015_ref_004","doi-asserted-by":"crossref","unstructured":"Lutfallah C, Wang W, Mason JI, Chang YT, Haider A, Rich B, Castro-Magana M, Copeland KC, David R, Pang S. Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab 87, 2611\u20132622, 2002.","DOI":"10.1210\/jcem.87.6.8615"},{"key":"2026063014595202728_j_enr-2025-0015_ref_005","doi-asserted-by":"crossref","unstructured":"Raveendran A, Chacko TJ, Prabhu P, Varma R, Lewis LE, Rao P, Shetty PP, Mallimoggala YSP, Hedge A, Nayak DM, Moorkoth S, Moorkoth S. Need and viability of newborn screening programme in India: report from a pilot study. Int J Neonatal Screen 8, 26, 2022.","DOI":"10.3390\/ijns8020026"},{"key":"2026063014595202728_j_enr-2025-0015_ref_006","doi-asserted-by":"crossref","unstructured":"Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, Meyer-Bahlburg HFL, Miller WL, Murad MH, Oberfield SE, White PC. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 103, 4043\u20134088, 2018.","DOI":"10.1210\/jc.2018-01865"},{"key":"2026063014595202728_j_enr-2025-0015_ref_007","doi-asserted-by":"crossref","unstructured":"Therrell BL. Newborn screening for congenital adrenal hyperplasia. Endocrinol Metab Clin North Am 30, 15\u201330, 2001.","DOI":"10.1016\/S0889-8529(08)70017-3"},{"key":"2026063014595202728_j_enr-2025-0015_ref_008","doi-asserted-by":"crossref","unstructured":"Zhou Q, Wang D, Wang C, Zheng B, Liu Q, Zhu Z, Jia Z, Gu W. Clinical and Molecular Analysis of Four Patients With 11\u03b2-Hydroxylase Deficiency. Front Pediatr 8, 410, 2020.","DOI":"10.3389\/fped.2020.00410"}],"container-title":["Endocrine Regulations"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/reference-global.com\/pdf\/10.2478\/enr-2025-0015","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T19:56:11Z","timestamp":1782849371000},"score":1,"resource":{"primary":{"URL":"https:\/\/reference-global.com\/article\/10.2478\/enr-2025-0015"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,1]]},"references-count":8,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,8,28]]},"published-print":{"date-parts":[[2025,1,1]]}},"alternative-id":["10.2478\/enr-2025-0015"],"URL":"https:\/\/doi.org\/10.2478\/enr-2025-0015","relation":{},"ISSN":["1336-0329"],"issn-type":[{"value":"1336-0329","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,1]]}}}