An easily missed diagnosis: 17-alpha-hydroxylase/17,20-lyase deficiency

KÜÇÜKEMRE-AYDıN B., ÖĞRENDIL-YANAR Ö., BILGE I., Baş F., POYRAZOĞLU Ş., YıLMAZ A., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.57, sa.3, ss.277-281, 2015 (SCI-Expanded) identifier identifier identifier

  • 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.