Document Type



Pathology and Microbiology


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, and high degree of consanguinity among parents, psychosexual outcome of 21 OHD females and the need to develop expertise for early case detection. The analysis was done using Amplification Refractory Mutation System (ARMS) PCR. These cases show that CAH frequently remains undiagnosed during the newborn period in our population due to lack of awareness in the society and lack of proper diagnosis by the primary physician. There is a need to develop expertise for early case detection.

Publication (Name of Journal)

Journal of the Pakistan Medical Association

Included in

Pathology Commons