Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

MONDO:0008729

Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.

Also known as: CAH due to 11-beta-hydroxylase deficiency, CYP11B1 deficiency, adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 11-Beta-Hydroxylase deficiency, P450C11B1 deficiency, adrenal hyperplasia 4, adrenal hyperplasia IV, adrenal hyperplasia hypertensive form

3 clinical trials for this condition and its sub-types, 1 tagged with Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency itself.

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

Including sub-types (3) Tagged with Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (1)

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Researchers launch major study to unravel mysteries of excess male hormones

Knowledge-focused Recruiting now

This natural history study aims to gather information from up to 3,000 people with genetic conditions that cause too much androgen (male-like hormones), such as congenital adrenal hyperplasia (CAH) and familial male-limited precocious puberty (FMPP). Participants undergo various …

Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused

Last updated Sep 10, 2026 00:00 UTC

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

Where it sits in the disease tree

Researchers launch major study to unravel mysteries of excess male hormones