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Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

Synonym(s) CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
  • E25.0
MeSH -
MedDRA -


Disease definition

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.


The prevalence is unknown as it is extremely rare.

Clinical description

Boys present at birth with variable levels of undervirilization. In both sexes, salt wasting forms of CAH lead to symptoms of dehydration and hypotension in the first few weeks of life and can be life threatening.


The disease is caused by a mutation in the HSD3B2 gene located on chromosome 1p13.1.

Genetic counseling

The disease follows an autosomal recessive pattern of inheritance.

Expert reviewer(s)

  • Pr Juliane LEGER

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