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Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.
ORPHA:90793Classification level: Disorder
It accounts for approximately 1% of all CAH cases. The prevalence is therefore around 1/1,000,000.
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.
The disease is caused by a mutation in the CYP17A1 gene located on chromosome 10 q24.3.
The disease follows an autosomal recessive pattern of inheritance.