Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency

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.