Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

CYP17A1, CYB5A, WBP1L, AMH, CYP2B6, POMC, PPIG

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

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A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.

Epidemiology

It accounts for approximately 1% of all CAH cases. The prevalence is therefore around 1/1,000,000.

Clinical description

Both a sex steroid and glucocorticoid deficiency are present. Common manifestations include undervirilization in males, primary amenorrhea in females and lack of pubertal development in both sexes. Hypertension, often accompanied by hypokalemia, can also develop due to the mineralocorticoid excess seen in this disease.

Etiology

The disease is caused by a mutation in the CYP17A1 gene located on chromosome 10 q24.3.

Genetic counseling

The disease follows an autosomal recessive pattern of inheritance.