Congenital adrenal hyperplasia: Experience at intersex clinic, AIIMS

Abstract

During 1981–88, 63 cases of female pseudohermaphroditism (FPH) were seen at the Intersex clinic at AIIMS, of whom 34 (54%) were diagnosed as due to congenital adrenal hyperplasia (CAH). Though ambiguity was present at birth in most cases, only one child was brought immediately after birth, while 14 presented after one year. Family history of affected siblings and fetal wast-age was present in 10. Salt wasting symptoms were present in 13 (38.2%), evidence of early virilization in 10 (29.4%) and generalised hyperpigmentation in 7 (20.6%). Clitoromegaly was present in 30 children with labial fusion in 10 and scrotalisation of labia in 6. The urogenital opening was single in 25 (73.5%). Buccal smear was positive for sex chromatin in 19. Chromosomal pattern showed 46 XX in 33. Dyselectrolytemia was present in 16 children. Bone age was advanced in all. Adrenal hyperplasia could be documented in 3 on CT scan. All the girls were put on hydrocortisone or prednisolone, and fluodrocortisone was given only to children with salt wasting CAH. Children with CAH are being broght to medical attention much too late and investigative and therapeutic facilities are grossly inadequate. There is a need to educate primary care physicians for early case detection and provide minimum diagnostic and therapeutic facilities in regional centres.