TURKISH JOURNAL OF PEDIATRICS, vol.57, no.3, pp.277-281, 2015 (Journal Indexed in SCI)
Article / Article
TURKISH JOURNAL OF PEDIATRICS
Science Citation Index Expanded, Scopus, TR DİZİN (ULAKBİM)
17 alpha-hydroxylase/17,20-lyase deficiency, CYP17A1 gene, disorders of sex development, DISORDERS, EXPERIENCE, MUTATIONS, SEX
The CYP17A1 gene encodes the enzyme P450c17, which mediates both 17 alpha-hydroxylase and 17,20-lyase activities and is essential for production of cortisol and sex steroids. Loss-of-function mutations of this gene cause 17 alpha-hydroxylase/17,20-lyase deficiency, characterized by hypertension, hypokalemia and sexual infantilism.