Rare types of congenital adrenal hyperplasia: report of five children with 11β-hydroxylase deficiency including pathogenic and novel CYP11B1 variants.

Abstract excerpt

11β-hydroxylasedeficiency (11β-OHD) is a rare form of congenital adrenal hyperplasia caused by biallelic pathogenic variants in the CYP11B1 gene. It leads to impaired cortisol synthesis, resulting in increased adrenocorticotropic hormone stimulation and consequent accumulation of steroid precursors, which are diverted to androgen synthesis. In addition, the accumulation of 11-deoxycorticosterone, which is a...

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