17-alpha-hydroxylase deficiency
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 90793
Definition
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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
Union, NJ, 07083 , United States Toll Free: 866-227-3737 Email: contact@caresfoundation.org Url: http://www.caresfoundation.org Name: Adrenal Insufficiency United Toll Free: 1-855-AIUnite (248-6483) Email: contact@aiunited.org Url: http://aiunited.org/ Name: National Adrenal Diseases Foundation NADF P.O. Box 566
Lake Zurich, IL, 60047, Phone: +1-(847) 726-9010 Email: nadfmail@nadf.us Url: https://www.nadf.us
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