A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene

Núria Camats; Ala Üstyol; Mehmet Emre Atabek; Bernhard Dick; Christa E Flück

doi:10.1002/ccr3.343

A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene

Clin Case Rep. 2015 Oct;3(10):793-7. doi: 10.1002/ccr3.343. Epub 2015 Aug 26.

Authors

Núria Camats¹, Ala Üstyol², Mehmet Emre Atabek², Bernhard Dick³, Christa E Flück¹

Affiliations

¹ Pediatric Endocrinology and Diabetology, Departments of Pediatrics and Clinical Research, University Children's Hospital Bern Bern, 3010, Switzerland.
² School of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Necmettin Erbakan University Konya, 42080, Turkey.
³ Department of Nephrology, Hypertension and Clinical Pharmacology, University Hospital Bern Bern, 3010, Switzerland.

Abstract

A novel homozygous long-range deletion of the CYP17A1 gene abolished protein expression and caused the severest form of 17-hydroxylase deficiency in one kindred of a Turkish family. The affected subjects presented with 46,XY sex reversal and 46,XX lack of pubertal development as well as severe hypertension.

Keywords: 17α-hydroxylase/17,20-lyase deficiency; hypertension; pubertal development; sexual development; steroidogenesis.

Publication types

Case Reports