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Phenotypic spectrum and diagnostic challenges in non-21-alpha-hydroxylase deficiency congenital adrenal hyperplasia: a case series from a tertiary care center

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28 sie 2025

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Al Alawi AM, Nordenstrom A, Falhammar H. Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency. Endocrine 63, 407–421, 2019. Search in Google Scholar

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 17α-hydroxylase deficiency. J Pediatr Endocrinol Metab 2020. Search in Google Scholar

Dabas A, Bothra M, Kapoor S. CAH newborn screening in India: challenges and opportunities. Int J Neonatal Screen 6, 70, 2020. Search in Google Scholar

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, 2611–2622, 2002. Search in Google Scholar

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. Search in Google Scholar

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, 4043–4088, 2018. Search in Google Scholar

Therrell BL. Newborn screening for congenital adrenal hyperplasia. Endocrinol Metab Clin North Am 30, 15–30, 2001. Search in Google Scholar

Zhou Q, Wang D, Wang C, Zheng B, Liu Q, Zhu Z, Jia Z, Gu W. Clinical and Molecular Analysis of Four Patients With 11β-Hydroxylase Deficiency. Front Pediatr 8, 410, 2020. Search in Google Scholar