Title of article :
Classic congenital adrenal hyperplasia: A delayed presentation
Author/Authors :
Siddiqui, Saima Aziz Dow University of Health Sciences - Civil Hospital, Pakistan , Soomro, Nargis Dow University of Health Sciences - Civil Hospital, Pakistan , Ganatra, Ashraf Dow University of Health Sciences - Civil Hospital Karachi, Pakistan
Abstract :
Congenital adrenal hyperplasia (CAH) is a rare congenital disorder, which in cases of female genotype may result in virilization. Specific enzyme deficiencies in adrenocorticoid hormones biosynthetic pathway lead to excess androgen production causing virilization. Classic type presents early in infant life as salt losing or simple virilizing type, whereas non classic form presents late at puberty or in adult life. Depending on the type of classic CAH, type of adrenocorticoid deficiency, extent of virilization genotype, surgical corrective procedures, glucocorticoid mineralocorticoid replacement therapy are the mainstay of management. We present here a case of classic congenital adrenal hyperplasia of simple virilizing type, which presented later in childhood
Keywords :
Congenital adrenal hyperplasia , Clitoromegaly , Virilization , Clitoroplasty , Ambiguous genitalia
Journal title :
Pakistan Journal of Medical Sciences
Journal title :
Pakistan Journal of Medical Sciences