17-Hydroxyprogesterone deficiency as a cause of sexual infantilism and arterial hypertension: Laboratory and molecular diagnosis – a case report

Abstract

The differential diagnosis of hypertension associated with hypokalemia in infancy and adolescence should necessarily include deficiency of the 17α-hydroxylase enzyme, a rare form of congenital adrenal hyperplasia (CAH). In addition to hypertension, the classic syndrome caused by this deficiency is characterized by suppressed production of sex hormones and consequently sexual infantilism. Although rare (1% of all forms of CAH), there appears to be a higher incidence of this syndrome in some population groups. This is a case report on two sisters followed up at the Department of Obstetrics and Gynecology, School of Medicine, Universidade Estadual de Campinas (UNICAMP), who were both found to have the 46,XY genotype with homozygosis for W406R, exon 7 of the CYP17 gene (OMIM 202110). The condition was diagnosed only at puberty when hypergonadotropic hypogonadism resulted in sexual infantilism; however, arterial hypertension had been present since infancy and late diagnosis and lack of timely adequate treatment resulted in complications.

Keywords:

• 17-Hydroxylase deficiency
• congenital adrenal hyperplasia
• hypertension
• hypergonadotropic hypogonadism
• primary amenorrhea