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

Orpha number ORPHA90791
Synonym(s) CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • E25.0
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT
  • 54470008

Summary

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.

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.

The disease follows an autosomal recessive pattern of inheritance.

Expert reviewer(s)

  • Pr Juliane LEGER

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Detailed information

Article for general public
  • FR (2009,pdf)
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