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, Asli; Toksoy, GÜVEN; Bas, FİRDEVS; Abali, Zehra; Gencay, Ali; Poyrazoglu, ŞÜKRAN; Bundak, Ruveyde; Altunoglu, Umut; Avci, Sahin; Najafli, Adam; Uyguner, ZEHRA; Karaman, BİRSEN; Basaran, Seher; Darendeliler, Fatma

doi:10.4274/jcrpe.0032

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., ...More

Journal of clinical research in pediatric endocrinology, vol.10, no.3, pp.206-215, 2018 (SCI-Expanded, Scopus, TRDizin)

Publication Type: Article / Article
Volume: 10 Issue: 3
Publication Date: 2018
Doi Number: 10.4274/jcrpe.0032
Journal Name: Journal of clinical research in pediatric endocrinology
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
Page Numbers: pp.206-215
Keywords: Congenital adrenal hyperplasia, CYP17A1, disorder of sex development, hypertension, primary amenorrhea, 17-ALPHA-HYDROXYLASE 17,20-LYASE DEFICIENCY, CHINESE PATIENTS, MALE PSEUDOHERMAPHRODITISM, MOLECULAR CHARACTERIZATION, 20-LYASE DEFICIENCY, CYP17A1 DELETION, TURKISH CHILDREN, PUBERTY, FAMILY, ESTROGEN
Istanbul University Affiliated: Yes

Abstract

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.