A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations


Kardelen A. D. , Toksoy G. , Bas F., Abali Z. Y. , Gencay G., Poyrazoglu S. , ...Daha Fazla

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.10, ss.206-215, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 10 Konu: 3
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4274/jcrpe.0032
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Sayfa Sayıları: ss.206-215

Özet

Objective: 17a-hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH), characterized by hypertension and varying degrees of ambiguous genitalia and delayed puberty. The disease is associated with bi-allelic mutations in the CYP17A1 gene located on chromosome 10q24.3. We aimed to present clinical and genetic findings and follow-up and treatment outcomes of 17OHD patients.