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.

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

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

Afiliação

Camats N; Pediatric Endocrinology and Diabetology, Departments of Pediatrics and Clinical Research, University Children's Hospital Bern Bern, 3010, Switzerland.
Üstyol A; School of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Necmettin Erbakan University Konya, 42080, Turkey.
Atabek ME; School of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Necmettin Erbakan University Konya, 42080, Turkey.
Dick B; Department of Nephrology, Hypertension and Clinical Pharmacology, University Hospital Bern Bern, 3010, Switzerland.
Flück CE; Pediatric Endocrinology and Diabetology, Departments of Pediatrics and Clinical Research, University Children's Hospital Bern Bern, 3010, Switzerland.

Clin Case Rep ; 3(10): 793-7, 2015 Oct.

Article em En | MEDLINE | ID: mdl-26509008

Palavras-chave

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

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies Idioma: En Revista: Clin Case Rep Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Suíça

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