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.
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.
Pediatric Endocrinology and Diabetology, Departments of Pediatrics and Clinical Research, University Children's Hospital Bern Bern, 3010, Switzerland.
Núria
N
Camats
School of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Necmettin Erbakan University Konya, 42080, Turkey.
Ala
A
Üstyol
School of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Necmettin Erbakan University Konya, 42080, Turkey.
Mehmet Emre
ME
Atabek
Department of Nephrology, Hypertension and Clinical Pharmacology, University Hospital Bern Bern, 3010, Switzerland.
Bernhard
B
Dick
Pediatric Endocrinology and Diabetology, Departments of Pediatrics and Clinical Research, University Children's Hospital Bern Bern, 3010, Switzerland.
Christa E
CE
Flück
17α-hydroxylase/17,20-lyase deficiency; hypertension; pubertal development; sexual development; steroidogenesis