An easily missed diagnosis: 17-alpha-hydroxylase/17,20-lyase deficiency
TURKISH JOURNAL OF PEDIATRICS, cilt.57, sa.3, ss.277-281, 2015 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 57 Sayı: 3
- Basım Tarihi: 2015
- Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.277-281
- Anahtar Kelimeler: 17 alpha-hydroxylase/17,20-lyase deficiency, CYP17A1 gene, disorders of sex development, DISORDERS, EXPERIENCE, MUTATIONS, SEX
- İstanbul Üniversitesi Adresli: Evet
Özet
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.