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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

dc.contributor.authorBasaran, Seher
dc.contributor.authorToksoy, Güven
dc.contributor.authorKaraman, Birsen
dc.contributor.authorBundak, Ruveyde
dc.contributor.authorPoyrazoglu, Sukran
dc.contributor.authorAvci, Sahin
dc.contributor.authorKardelen, Asli Derya
dc.contributor.authorBas, Firdevs
dc.contributor.authorDarendeliler, Fatma Feyza
dc.contributor.authorNajafli, Adam
dc.contributor.authorAbali, Zehra Yavas
dc.contributor.authorUyguner, Oya
dc.contributor.authorAltunoglu, Umut
dc.contributor.authorGencay, Genco
dc.date.accessioned2021-03-04T13:05:51Z
dc.date.available2021-03-04T13:05:51Z
dc.date.issued2018
dc.identifier.citationKardelen A. D. , Toksoy G., Bas F., Abali Z. Y. , Gencay G., Poyrazoglu S., Bundak R., Altunoglu U., Avci S., Najafli A., et al., "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, cilt.10, sa.3, ss.206-215, 2018
dc.identifier.issn1308-5727
dc.identifier.othervv_1032021
dc.identifier.otherav_7a96b1bd-a159-4098-a384-a0842fb86a68
dc.identifier.urihttp://hdl.handle.net/20.500.12627/83975
dc.identifier.urihttps://doi.org/10.4274/jcrpe.0032
dc.description.abstractObjective: 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.
dc.language.isoeng
dc.subjectİç Hastalıkları
dc.subjectEndokrinoloji ve Metabolizma Hastalıkları
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıp
dc.subjectPEDİATRİ
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectENDOKRİNOLOJİ VE METABOLİZMA
dc.subjectÇocuk Sağlığı ve Hastalıkları
dc.titleA 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
dc.typeMakale
dc.relation.journalJournal of clinical research in pediatric endocrinology
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.identifier.volume10
dc.identifier.issue3
dc.identifier.startpage206
dc.identifier.endpage215
dc.contributor.firstauthorID99462


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