Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency
September 2025
in “
JCEM Case Reports
”
New to Prednisolone? There is a guide in the encyclopedia. Read the guide → Studysummary In this case report, a 46-year-old woman initially diagnosed with 21-hydroxylase deficiency congenital adrenal hyperplasia was later identified as having 3β-HSD2 deficiency after further investigation, highlighting the need for awareness of rarer CAH forms to prevent delayed diagnosis and insufficient treatment. Our plain-language summary of this paper — not a Tressless recommendation.
This case study describes a 46-year-old woman with a delayed diagnosis of congenital adrenal hyperplasia (CAH) due to 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD2) deficiency, initially misdiagnosed as 21-hydroxylase deficiency (21-OHD) CAH at birth. Despite treatment, her symptoms persisted, leading to further investigation and the correct diagnosis through low 17-hydroxyprogesterone levels and genetic testing. The study highlights the importance of considering rarer forms of CAH when symptoms do not match common diagnoses, as misdiagnosis can result in inadequate treatment. The patient is stable on her current treatment, and her family has been offered genetic screening. The case emphasizes the diagnostic challenges of 3β-HSD2 deficiency, which requires urine steroid profiling for accurate diagnosis, and the need for clinical suspicion and family screening to prevent misdiagnosis.
