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

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 chromosom...

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書誌詳細
出版年:J Clin Res Pediatr Endocrinol
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Galenos Publishing 2018
主題:
Original Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6083475/
https://ncbi.nlm.nih.gov/pubmed/29595516
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.0032
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