Turkish Journal of
Endocrinology and Metabolism
Case Report

17-Alpha Hydroxylase Deficiency: A Rare Case of Primary Amenorrhea and Hypertension


Erciyes University Faculty of Medicine, Departments of Endocrinology, Kayseri, Turkey


Erciyes University Faculty of Medicine, Department of Medical Genetics, Kayseri, Turkey


University Hospital Schleswig-Holstein, Department of Pediatrics, Division of Pediatric Endocrinology, Kiel, Germany

Turk J Endocrinol Metab 2014; 18: 137-139
DOI: 10.4274/tjem.2415
Read: 213 Downloads: 69 Published: 01 December 2014


17-alpha hydroxylase deficiency (17OHD) is an uncommon cause of congenital adrenal hyperplasia (CAH) resulting from mutation in the CYP17 gene. It is an autosomal recessive disease leading to the deficiency of enzyme activity which results in impaired synthesis of cortisol, androgen and sex steroids. A 35-year-old woman was admitted to the hospital with hypokalemia, weakness, and fatigue. Medical history revealed two attempts of in vitro fertilization (IVF) without achieving pregnancy. Laboratory evaluation showed  hypokalemia, hypocortisolemia, hypergonadotropic hypogonadism and increased levels of 11-deoxycorticosterone. Her karyotype was 46XX. The patient had no history of menarche. She had Tanner stage 2 breast development. Genotyping showed homozygous mutation located in exon 7 which abolishes both 17-alpha hydroxylase and 17,20 lyase activities of the CYP17A1 protein. After starting dexamethasone 0.5 mg/day, her potassium level was normalized, and blood pressure improved. In conclusion, a comprehensive evaluation should be performed before using assisted reproductive techniques, such as in vitro fertilization in hypertensive women with sexual infantilism, primary amenorrhea, and hypokalemia.



ISSN 1301-2193 EISSN 1308-9846