Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

Watchlist

(log in to enable)

Retrieved

2021-01-23

Source

Orphanet

Trials

—

Genes

HSD3B2, CHST3, POMC, HSD17B3, CGA, MT2A, MTNR1B, TMPRSS6, LINC01194

Drugs

Adeno-associated viral vector expressing human 21-hydroxylase, Hydrocortisone ( ALKINDI ), Hydrocortisone (modified release tablet) ( PLENADREN )

Adeno-associated viral vector expressing human 21-hydroxylase, Hydrocortisone ( ALKINDI ), Hydrocortisone (modified release tablet) ( PLENADREN ), Nevanimibe, Prasterone, Pyrazolo[1,5-a]pyrimidine, 3-[4-chloro-2-(4-morpholinyl)-5-thiazolyl]-7-(1-ethylpropyl)-2,5-dimethyl-pyrazolo[1,3-a]pyrimidine

Interested in hearing about new therapies?

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.

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.