Seventeen alpha-
hydroxylase deficiency (17OHD) syndrome is a rare
genetic disorder of
steroid biosynthesis causing decreased production of
glucocorticoids and sex
steroids and increased synthesis of
mineralocorticoid precursors. There are only 130 cases reported worldwide with documented severe 17OHD. Here, we describe the clinical, hormonal, and molecular genetic characteristics of a Turkish patient with 17OHD, who presented to our clinic due to
high blood pressure. A 29-year-old girl with 46,XY genotype was admitted to our nephrology clinic due to uncontrolled
hypertension and
hypokalemia. The diagnosis was suspected because of primary
amenorrhea, absence of sexual maturation,
hypertension, and
hypokalemia. Endocrine investigation revealed low basal levels of all
steroid hormones which require 17-hydroxylation for biosynthesis. Plasma concentrations of
ACTH, FSH, and LH were elevated. Imaging did not reveal uterus or adnexial structures. The patient's
hypertension and
hypokalemia resolved after
glucocorticoid replacement and treatment with
potassium-sparing diuretics. 17OHD is a rare form of
congenital adrenal hyperplasia in which defects in the biosynthesis of
cortisol and sex
steroids result in
mineralocorticoid excess, hypokalemic
hypertension, and sexual abnormalities such as
pseudohermaphroditism in males, and
sexual infantilism in females. 17OHD should be suspected in patients with hypokalemic
hypertension and lack of secondary sexual development so that appropriate
therapy can be implemented.