Muthuvel B, Gautam A, Pal R, Panigrahi I, Dayal D. Simple virilising congenital adrenal hyperplasia in monozygotic twins: A rare report and review of previous cases. Pediatric Endocrinology Diabetes and Metabolism. 2020;26(1):58-62. doi:10.5114/pedm.2020.93248.
APA
Muthuvel, B., Gautam, A., Pal, R., Panigrahi, I., & Dayal, D. (2020). Simple virilising congenital adrenal hyperplasia in monozygotic twins: A rare report and review of previous cases. Pediatric Endocrinology Diabetes and Metabolism, 26(1), 58-62. https://doi.org/10.5114/pedm.2020.93248
Chicago
Muthuvel, Balasubramaniyan, Akanksha Gautam, Rimesh Pal, Inusha Panigrahi, and Devi Dayal. 2020. "Simple virilising congenital adrenal hyperplasia in monozygotic twins: A rare report and review of previous cases". Pediatric Endocrinology Diabetes and Metabolism 26 (1): 58-62. doi:10.5114/pedm.2020.93248.
Harvard
Muthuvel, B., Gautam, A., Pal, R., Panigrahi, I., and Dayal, D. (2020). Simple virilising congenital adrenal hyperplasia in monozygotic twins: A rare report and review of previous cases. Pediatric Endocrinology Diabetes and Metabolism, 26(1), pp.58-62. https://doi.org/10.5114/pedm.2020.93248
MLA
Muthuvel, Balasubramaniyan et al. "Simple virilising congenital adrenal hyperplasia in monozygotic twins: A rare report and review of previous cases." Pediatric Endocrinology Diabetes and Metabolism, vol. 26, no. 1, 2020, pp. 58-62. doi:10.5114/pedm.2020.93248.
Vancouver
Muthuvel B, Gautam A, Pal R, Panigrahi I, Dayal D. Simple virilising congenital adrenal hyperplasia in monozygotic twins: A rare report and review of previous cases. Pediatric Endocrinology Diabetes and Metabolism. 2020;26(1):58-62. doi:10.5114/pedm.2020.93248.
Congenital adrenal hyperplasia (CAH) occurring in twins is extremely rare. Most of these cases are of classic salt-wasting CAH due to 21-hydroxylase enzyme deficiency. Only two cases of the simple virilising form of CAH have been reported previously, with variable clinical presentations. In this report, we describe a pair of monozygotic twins with classic simple virilising form of CAH, who had a simultaneous onset and similar severity of clinical manifestations. Genetic analysis of the CYP21A2 gene in twin 1 showed the pres-ence of two heterozygous pathogenic sequence variants, c.518T>A and c.955C>T in the CYP21A2 gene, consistent with a diagnosis of CAH due to 21-hydroxylase deficiency. We also present a brief review of previous cases of twins with CAH.
