Arterial hypertension in 34-yr-old female with concomitant defects in biosynthesis of cortisol and sex steroids leading to defects in sexual maturation (the late diagnosed 17a-hydroxylase/17.20-lyase deficiency) — a case report

Abstract

Congenital adrenal hyperplasia resulting from 17a-hydroxylase/ 17.20-lyase deficiency (17OHD) is a rare autosomal recessive disorder. Deficiency of enzyme is caused by mutation of the P450c17 gene termed CYP17 gene. 17a-Hydroxylase/17.20-lyase deficiency is characterized by reduced or absent secretion of androgens and estrogens in the gonads as well as cortisol and C19 adrenal steroid precursors, with accompanying ACTH-mediated overproduction of adrenal mineralocorticoids: 11-deoxicorticosteron(DOC) and corticosteron. It is characterised by hypertension, hypokalaemia and sexual abnormalities such as infantilism in females or male pseudohermaphroditism. We describe a 34-yr-old female (karyotype 46 XX) with clinical and hormonal features typical for 17a-hydroxylase/17.20-lyase deficiency. She presented hypokalaemic hypertension, primary amenorrhoea and lack of development of secondary sex features. The hormonal profile of the patient demonstrated significant reduction of cortisol, estrogens and androgens, as well as elevation of progesterone, ACTH and gonadotropins. We also described the pathogenesis of biochemical and hormonal disturbancies and different clinical forms of this rare disorder.