An Interesting Case of Primary Amenorrhea

Congenital adrenal hyperplasia (CAH) is caused by deficiency of enzymes involved in glucocorticoid synthesis. The classic form of 21 hydroxylase deficiency (21-OHD) is the most common cause of CAH. It is the most common cause of androgenization in 46 XX females. Mutations in CYP21A2 is responsible for 90-95 percent of cases. The mildest mutations result in the least severe clinical phenotype non-classical CAH, usually presenting during adolescence and early adulthood and with preserved glucocorticoid production.We are presenting the case report of a 17 year old female who presented with masculine features. she had not attained menarche. On examination she had masculine look, male pattern pubic hair, female external genitalia with clitoromegaly, acanthosis nigricans and acne. On further evaluation, she was found to have elevated serum testosterone with elevated androstenedione and dehydroepiandrosterone (DHEAS). Her serum cortisol, aldosterone and electrolytes were within normal limits at the expense of elevated serum ACTH. Her serum 17-hydroxy progesterone levels (17-OH progesterone) were elevated. This lead to the diagnosis of non-classical CAH.