Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

MONDO:0008730

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

Also known as: 17-alpha-hydroxylase/17,20-lyase deficiency, CAH due to 17-alpha-hydroxylase deficiency, combined 17-hydroxylase/17,20-lyase deficiency, 17,20-lyase deficiency, isolated, 17-Alpha-Hydroxylase deficiency, 17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete, 17-Alpha-Hydroxylase/17,20-lyase deficiency, combined partial, adrenal hyperplasia 5

3 clinical trials for this condition and its sub-types, 1 tagged with Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency itself.

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Where it sits in the disease tree

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↑ Reproductive system disorder (8559) ↑ Congenital adrenal hyperplasia (38)

Including sub-types (3) Tagged with Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency (1)

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Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth