Non-classical 11 β-hydroxylase deficiency caused by a novel heterozygous mutation: a case report and review of the literature

ConclusionsWe report a novel heterozygous mutation ofCYP11B1 (c.905_907delinsTT), enriching the spectrum of genetic variants ofCYP11B1. This finding provides a valuable case reference for early diagnosis of non-classical patients with 11 β-OHD.

Source: Endocrine - February 27, 2024 Category: Endocrinology Source Type: research