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Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form

MONDO:0017839

The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency.

Also known as: classic 21-OHD CAH, salt wasting form

2 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) Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (18)
Trials to join now! 1 Not yet recruiting 1
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  • New imaging tracer could shed light on adrenal cholesterol

    Knowledge-focused Recruiting now

    This 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

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