Simple-Virilizing Congenital Adrenal Hyperplasia – A Rare Case Report

Abstract

Abstract Simple-virilizing congenital adrenal hyperplasia (SV-CAH) is an inherited condition which transmission is autosomal recessive due to complete or partial enzyme deficiency which leads to defective cortisol synthesis. It involves five enzyme-linked steps. Insufficiency of any enzyme leads to different types of CAH. It can be classified into classic and nonclassic. Classic has two subtypes – salt wasting and simple-virilizing type. This case report of a 3½-year-old boy showing an increase in growth of genitals and increase in pigmentation of the skin. A probable diagnosis of virilizing CAH or precocious puberty was made. On laboratory investigation, there was a decrease in the level of cortisol and grossly raised level of 17-hydroxyprogesterone. This condition was diagnosed with SV-CAH after confirmation with laboratory parameters. The patient was managed accordingly. The aim of the treatment was to correct the level of cortisol and maintain balance of electrolytes. Hence, the patient was treated with hydrocortisone and fludrocortisone and discharged with advice to continue the same treatment.