A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 ?-hydroxylase deficiency due to a novel variant in CYP17A1 gene

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dc.authorid0000-0002-5299-9480en_US
dc.authorid0000-0002-9809-0977en_US
dc.authorid0000-0003-2438-0602en_US
dc.contributor.authorÜnal, Edip
dc.contributor.authorYıldırım, Ruken
dc.contributor.authorTaş, Funda Feryal
dc.contributor.authorTekin, Suat
dc.contributor.authorCeylaner, Serdar
dc.contributor.authorHaspolat, Yusuf Kenan
dc.date.accessioned2021-12-01T06:19:53Z
dc.date.available2021-12-01T06:19:53Z
dc.date.issued2020en_US
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalıen_US
dc.description.abstractAims: 17α-hydroxylase deficiency is a rare form of congenital adrenal hyperplasia (CAH) which is inherited autosomal recessive. It occurs result of a mutations in gene cytochrome (CYP)17A1, which encodes both 17α-hydroxylase and 17,20-lyase enzymes. The main clinical findings of the disease are delayed puberty, primary amenorrhea in females, and disorders of sex development (DSD) in males. Also, hypertension and hypokalemia can be seen in both sexes. In this paper, we describe the clinical and genetic changes of two patients with 46,XY and 46,XX karyotypes from two different families who were diagnosed with complete 17α-hydroxylase enzyme deficiency.Methods: In this study various methods including clinical, hormonal, radiological and genetic analyzes were used. Blood samples were obtained for genetic tests. Genomic DNA was extracted from peripheral blood leukocytes, and coding sequence abnormalities of the CYP17 gene were assessed by polymerase chain reaction and direct sequencing analysis.Results: 17α-hydroxylase deficiency was diagnosed in 2 patients with 46,XX and 46,XY karyotype who presented with hypertension and delayed puberty. The pQ80 * (c.238C > T) mutation detected in both cases was evaluated as a novel variant.en_US
dc.identifier.citationÜnal, E., Yıldırım, R., Taş, F. F., Tekin, S., Ceylaner, S., Haspolat, Y. K. ve diğerleri. (2020). A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 α-hydroxylase deficiency due to a novel variant in CYP17A1 gene. Gynecological Endocrinology, 36(8), 739-742.en_US
dc.identifier.doi10.1080/09513590.2019.1707798
dc.identifier.endpage742en_US
dc.identifier.issn0951-3590
dc.identifier.issn1473-0766
dc.identifier.issue8en_US
dc.identifier.pmid31885295
dc.identifier.scopus2-s2.0-85077858612
dc.identifier.scopusqualityQ2
dc.identifier.startpage739en_US
dc.identifier.urihttps://pubmed.ncbi.nlm.nih.gov/31885295/
dc.identifier.urihttps://hdl.handle.net/11468/8341
dc.identifier.volume36en_US
dc.identifier.wosWOS:000504809000001
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorÜnal, Edip
dc.institutionauthorTaş, Funda Feryal
dc.institutionauthorTekin, Suat
dc.institutionauthorHaspolat, Yusuf Kenan
dc.language.isoenen_US
dc.publisherTaylor & Francis Groupen_US
dc.relation.ispartofGynecological Endocrinology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subject17α-hydroxylaseen_US
dc.subjectCYP17A1 geneen_US
dc.subjectDelayed pubertyen_US
dc.subjectHypertensionen_US
dc.subjectPrimary amenorrheaen_US
dc.titleA rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 ?-hydroxylase deficiency due to a novel variant in CYP17A1 geneen_US
dc.titleA rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 ?-hydroxylase deficiency due to a novel variant in CYP17A1 gene
dc.typeArticleen_US

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