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 | Zendy

Aslı Derya Kardelen | Zendy; Güven Toksoy | Zendy; Firdevs Baş | Zendy; Zehra Yavaş Abalı | Zendy; Ali Genco Gençay | Zendy; Şükran Poyrazoğlu | Zendy; Rüveyde Bundak | Zendy; Umut Altunoğlu | Zendy; Şahin Avcı | Zendy; Adam Najaflı | Zendy; Zehra Oya Uyguner | Zendy; Birsen Karaman | Zendy; Seher Başaran | Zendy; Feyza Darendelıler | Zendy

Open Access

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

Author(s) -

Aslı Derya Kardelen,

Güven Toksoy,

Firdevs Baş,

Zehra Yavaş Abalı,

Ali Genco Gençay,

Şükran Poyrazoğlu,

Rüveyde Bundak,

Umut Altunoğlu,

Şahin Avcı,

Adam Najaflı,

Zehra Oya Uyguner,

Birsen Karaman,

Seher Başaran,

Feyza Darendelıler

Publication year - 2018

Publication title -

journal of clinical research in pediatric endocrinology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.566

H-Index - 35

eISSN - 1308-5735

pISSN - 1308-5727

DOI - 10.4274/jcrpe.0032

Subject(s) - medicine , congenital adrenal hyperplasia , pediatrics , cyp17a1 , missense mutation , delayed puberty , pediatric endocrinology , bone age , endocrinology , genetics , mutation , gene , hormone , biology

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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