Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants

CONCLUSION: We present a case of CAH due to compound heterozygosity of two novel pathogenic variants of the CYP11B1 gene, emphasizing the importance of molecular investigation in order to confirm clinical diagnosis and allow proper genetic counseling of the family.PMID:34697763 | DOI:10.1007/s42000-021-00322-1

Source: Hormones - October 26, 2021 Category: Endocrinology Authors: I Fylaktou P Smyrnaki A Sertedaki M Dracopoulou Ch Kanaka-Gantenbein Source Type: research