Non-classic form of 21-Hydroxlase deficiency: Report of four sisters

Abstract

Congenital adrenal hyperplasia consists of a variety of disorders arising from specific defects in the enzymes of the adrenal cortex, which is transmitted autosomal recessively. The most common enzyme deficiency is 21-Hydroxlase defect causing accumulation of precursors proximal to the blocked enzymatic step, so shifting the pathway into the androgen overproduction. Deficiency of 21-Hydroxlase is closely linked to HLA major histocompatibility complex on the short arm of chromosome 6. There is a specific association between HLA and molecular genetic analysis and the type of the disease ranging from asymptomatic carrier to fully symptomatic and salt loser patients. In this article we present four sisters with 21OH deficiency and late onset of clinical symptoms