Presentation, diagnosis and follow-up characteristics of 17?-hydroxylase deficiency cases with exon 1-6 deletion (founder mutation) in the CYP17A1 gene: 20-years single-center experience

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dc.authoridÇamtosun, Emine/0000-0002-8144-4409
dc.authoridDundar, Ismail/0000-0003-1468-6405
dc.authorwosidÇamtosun, Emine/AAE-3945-2020
dc.authorwosidÇiftci, Nurdan/GNM-8116-2022
dc.authorwosidDundar, Ismail/ABG-2027-2021
dc.contributor.authorDundar, Ismail
dc.contributor.authorAkinci, Aysehan
dc.contributor.authorCamtosun, Emine
dc.contributor.authorCiftci, Nurdan
dc.contributor.authorKayas, Leman
dc.date.accessioned2024-08-04T20:54:37Z
dc.date.available2024-08-04T20:54:37Z
dc.date.issued2023
dc.departmentİnönü Üniversitesien_US
dc.description.abstractContext: 17 alpha-hydroxylase/17,20-lyase deficiency (17OHD) is characterized by decreased sex steroids and cortisol synthesis, as well as an increased mineralocorticoid effect.Aim: This study aimed to evaluate the clinical, biochemical, and molecular characteristics of patients with 17OHD and to discuss the diagnosis, treatment, and follow-up process. Methods: Age, symptoms, anthropometric measurements, blood pressure, and hormonal, biochemical, and chromosomal analysis results of 13 patients diagnosed with 17OHD between 2003 and 2022 were recorded at admission and during follow-up. Whole gene next-generation sequencing was performed for the CYP17A1 gene. Multiplex ligation-dependent probe amplification was used to detect deletions in patients without point mutations in CYP17A1.Results: The median age at diagnosis was 14.0 (3.5-16.8) years. Nine of 13 (69.2%) had 46,XY karyotypes. All patients were phenotypically female and were raised as girls. The most common reasons for admission were the absence of puberty and amenorrhea (n=8, 61.5%), followed by hypertension (n=3, 23.0%) and family screening (n=2, 15.3%). At the time of diagnosis, hypertension was detected in 10 (76.9%) patients, and 11 (84.6%) patients had hypokalemia.Conclusions: 17OHD should be considered in patients with pubertal delay/primary amenorrhea, hypertension, and hypokalemia. Adrenal function should be included in the clinical study of hypergonadotropic hypogonadism, after excluding Turner syndrome, in all 46,XX females. Deletion in the CYP17A1, including exons 1-6, is the founder mutation for Turkey's East and Southeast regions.en_US
dc.identifier.doi10.1159/000529158
dc.identifier.endpage50en_US
dc.identifier.issn1661-5425
dc.identifier.issn1661-5433
dc.identifier.issue1en_US
dc.identifier.pmid36652930en_US
dc.identifier.scopus2-s2.0-85167478363en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage43en_US
dc.identifier.urihttps://doi.org/10.1159/000529158
dc.identifier.urihttps://hdl.handle.net/11616/101511
dc.identifier.volume17en_US
dc.identifier.wosWOS:000922249500001en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherKargeren_US
dc.relation.ispartofSexual Developmenten_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectChinese Patientsen_US
dc.subject17-Hydroxylaseen_US
dc.subjectIdentificationen_US
dc.titlePresentation, diagnosis and follow-up characteristics of 17?-hydroxylase deficiency cases with exon 1-6 deletion (founder mutation) in the CYP17A1 gene: 20-years single-center experienceen_US
dc.typeArticleen_US

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