An Interesting Case of Primary Amenorrhea

Abstract

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.