Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
MONDO:0008727Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.
Also known as: 3-beta HSD deficiency, CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency, 3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF, 3-Beta-HSD deficiency, 3-Beta-hydroxysteroid dehydrogenase deficiency, 3b-hydroxysteroid dehydrogenase deficiency, HSD3B deficiency, adrenal hyperplasia 2
3 clinical trials for this condition and its sub-types.
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Researchers launch major study to unravel mysteries of excess male hormones
Knowledge-focused Recruiting nowThis 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 Aug 06, 2026 00:00 UTC
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New imaging tracer could shed light on adrenal cholesterol
Knowledge-focused Recruiting nowThis study tests a special radioactive tracer called [18F]FNP-59 to see if it can safely and clearly show cholesterol activity in the adrenal gland using PET scans. About 24 people will take part, including healthy volunteers and those with known adrenal problems. The goal is to …
Phase: EARLY_PHASE1 • Sponsor: Benjamin Viglianti • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:02 UTC