adrenal hyperplasia 1; congenital lipoid adrenal hyperplasia (CLAH)

Introduction

Most severe form of congenital adrenal hyperplasia.

Epidemiology

• rare disease, except in Japan & Korea where it accounts for a significant percentage of cases of congenital adrenal hyperplasia

Pathology

individuals produce no adrenal or gonadal steroids

Genetics

• autosomal recessive
• mutations in gene for steroidogenic acute regulatory protein (StAR)
• associated with defects in CYP11A1

Clinical manifestations

• profound adrenocortical insufficiency shortly after birth
• hyperpigmentation reflecting increased production of pro-opiomelanocortin
• all are phenotypic female
  • male pseudohermaphroditism resulting from deficient fetal testicular testosterone synthesis
• severe salt losing syndrome

Laboratory

• elevated plasma renin activity as a consequence of diminished aldosterone synthesis

Management

• fatal if not treated early
• see adrenal insufficiency

More general terms

• congenital adrenal hyperplasia (21-hydroxlase deficiency)
• pseudohermaphroditism; indeterminate sex; gynandrism

Database

• OMIM: https://mirror.omim.org/entry/201710