About Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia encompasses a group of autosomal recessive disorders of cortisol biosynthesis, with 21-hydroxylase deficiency (CYP21A2 mutations) accounting for over 95% of cases, leading to cortisol and often aldosterone deficiency with accumulation of adrenal androgen precursors. Classic CAH presents in two forms: the severe salt-wasting form, which causes life-threatening adrenal crisis in neonates, and the simple virilising form, which causes androgen excess without significant mineralocorticoid deficiency. Non-classic CAH is a milder form presenting later in childhood or adulthood with signs of androgen excess, and is among the most common autosomal recessive conditions in humans.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Congenital Adrenal Hyperplasia trials.
Biochemical confirmation (elevated 17-OHP on ACTH stimulation testing) and genetic confirmation of CYP21A2 pathogenic variants are required for most interventional trials, particularly those studying novel glucocorticoid regimens.
Current glucocorticoid type, dose, and dosing schedule are central to eligibility for trials of modified-release hydrocortisone or non-steroidal alternatives; detailed medication records are essential.
Biomarker control (androstenedione, 17-OHP, renin levels) at baseline screening is used to assess disease control status and stratify enrolment; recent laboratory results should be available.
Patient Resources
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