A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature

Abstract

Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency represents a group of autosomal recessive disorders characterized by impaired cortisol production due to altered upstream steroid conversions, subclassified as classic and nonclassic forms. The genotype–phenotype correlation is possible in the most frequent case but not in all. Despite in literature many mutations are known, there is the possibility of finding a new genetic pattern in patients with CAH.

Keywords

salt-wasting CAH - homozygous - CYP21A2 mutation - Q318X - R356W - R369Q

Publikationsverlauf

Eingereicht: 08. Oktober 2019

Angenommen: 23. Januar 2020

Artikel online veröffentlicht:
09. März 2020

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