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Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Disease definition
A very rare form of congenital adrenal hyperplasia (CAH) 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.
ORPHA:90791
Classification level: DisorderSummary
Epidemiology
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.
Etiology
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.
Additional information
Further information on this disease
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