Article
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
Journal of clinical research in pediatric endocrinology - 31 Jul 2018
Kardelen Aslı Derya, Toksoy Güven, Baş Firdevs, Yavaş Abalı Zehra, Gençay Genco, Poyrazoğlu Şükran, Bundak Rüveyde, Altunoğlu Umut, Avcı Şahin, Najaflı Adam, Uyguner Oya, Karaman Birsen, Başaran Seher, Darendeliler Feyza
Abstract excerpt
Objective: 17α-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....
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