Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

MONDO:0008727

Congenital 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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Broader categories

Disease (680) Metabolic disease (233) Inherited lipid metabolism disorder (189) Hereditary disease (176) Endocrine system disorder (72) Inborn errors of metabolism (45) Congenital adrenal hyperplasia (31) Adrenocortical insufficiency (26) Hereditary endocrine growth disease (24) Reproductive system disorder (15)

Trials to join now! 2 Not yet recruiting 1

Tiny trial to see if a dye helps adrenal surgery

Knowledge-focused Not yet recruiting

This study will look at 12 people having surgery to remove an adrenal gland (adrenalectomy) using robotic or laparoscopic methods. Some surgeries will use a green dye called Indocyanine Green (ICG) to help the surgeon see better, while others will not. The main goal is to track c…

Sponsor: University of Roma La Sapienza • Aim: Knowledge-focused

Last updated Jun 27, 2026 12:32 UTC

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

Broader categories

Tiny trial to see if a dye helps adrenal surgery