Medicine and Health Sciences Commons^™

Classic Virilizing Congenital Adrenal Hyperplasia Presenting Late: Case Series From Pakistan, Aysha Habib Khan, Muniba Aban, Rameez-Ul-Hassan, Naeem-Ul-Haq, Jamal Raza, Abdul Jabbar, Tariq Moatter

Department of Pathology and Laboratory Medicine

Deficiency of 21 hydroxylase enzyme deficiency (21OH) activity accounts for 90% cases of congenital adrenal hyperplasia (CAH). This results in deficient cortisol, increased ACTH, adrenal hyperplasia and increased adrenal androgen secretion. There is marked virilization in genetic females which is the hallmark of this disorder. Genetic heterogeneity in 21 OHD is well recognized, and both severe and mild forms occur. We present three cases of adult females with the disease from a larger study to establish genotype, phenotype correlation of Pakistani patients with congenital adrenal hyperplasia (CAH) and to highlight issues such as diagnostic delay, inappropriate gender assignment at birth, …