Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency
September 2025
in “
JCEM Case Reports
”
TLDR Consider rare forms of CAH for accurate diagnosis and treatment.
This document discusses a case of a 46-year-old female initially diagnosed with 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) at birth, who later exhibited signs of hyperandrogenism, such as hirsutism and male pattern hair loss. Despite treatment with prednisolone and fludrocortisone, her symptoms persisted, and low 17-hydroxyprogesterone levels suggested an alternative diagnosis. Further testing revealed a rare 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD2) deficiency, which accounts for less than 0.5% of CAH cases. This case underscores the importance of considering rarer forms of CAH to prevent delayed diagnosis and ensure appropriate treatment.
