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

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by pathogenic variants in seven genes involved in the cortisol and aldosterone biosynthetic pathway. The second most common cause, 11β-hydroxylase deficiency (11βOHD), is attributed to pathogenic variants in the CYP11B1 gene encoding for the enzyme 11β-hydroxylase (11βOH).A 13-year-old girl was referred to the pediatric endocrinologist due to a syncopal episode. She...