Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height

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dc.contributor.authorSavas-Erdeve, Senay
dc.contributor.authorCetinkaya, Semra
dc.contributor.authorAbali, Zehra Yavas
dc.contributor.authorPoyrazoglu, Sukran
dc.contributor.authorBas, Firdevs
dc.contributor.authorBerberoglu, Merih
dc.contributor.authorSiklar, Zeynep
dc.contributor.authorKorkmaz, Ozlem
dc.contributor.authorBulus, Derya
dc.contributor.authorAkbas, Emine Demet
dc.contributor.authorGuran, Tulay
dc.contributor.authorBober, Ece
dc.contributor.authorAkin, Onur
dc.contributor.authorYilmaz, Gulay Can
dc.contributor.authorAycan, Zehra
dc.date.accessioned2019-10-27T11:07:16Z
dc.date.available2019-10-27T11:07:16Z
dc.date.issued2017
dc.departmentEge Üniversitesien_US
dc.description.abstractBackground: The clinical, laboratory, genetic properties and final height of a large cohort of patients with nonclassical 21-hydroxylase deficiency (NC21OHD) in Turkey were analyzed. Methods: This multicenter, nationwide web-based study collected data. Results: The mean age was 9.79 +/- 4.35 years (229 girls, 29 boys). The most common symptoms were premature pubarche (54.6%) and hirsutism (28.6%). The peak cortisol was found below 18 mu g/dL in three (15.45%) patients. A mutation was detected in the CYP21A2 gene of 182 (87.5%) patients. The most common mutation was V281L. Final height in female patients who were diagnosed and treated before attaining final height or near final height was found to be shorter than the final height in female patients who were diagnosed after attaining final height or near final height. Conclusions: The final height of the patients who were treated during childhood was found to be shorter than the final height of patients during the adolescent period.en_US
dc.identifier.doi10.1515/jpem-2017-0088en_US
dc.identifier.endpage766en_US
dc.identifier.issn0334-018X
dc.identifier.issn2191-0251
dc.identifier.issue7en_US
dc.identifier.pmid28672743en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage759en_US
dc.identifier.urihttps://doi.org/10.1515/jpem-2017-0088
dc.identifier.urihttps://hdl.handle.net/11454/32001
dc.identifier.volume30en_US
dc.identifier.wosWOS:000408795100008en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWalter De Gruyter Gmbhen_US
dc.relation.ispartofJournal of Pediatric Endocrinology & Metabolismen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectfinal heighten_US
dc.subject21 hydroxylase deficiencyen_US
dc.subjectnonclassical congenital adrenal hyperplasiaen_US
dc.titleClinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final heighten_US
dc.typeArticleen_US

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