17? Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort

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dc.contributor.authorSiklar, Zeynep
dc.contributor.authorCamtosun, Emine
dc.contributor.authorBolu, Semih
dc.contributor.authorYildiz, Melek
dc.contributor.authorAkinci, Aysehan
dc.contributor.authorBas, Firdevs
dc.contributor.authorDundar, Ismail
dc.date.accessioned2024-08-04T20:56:13Z
dc.date.available2024-08-04T20:56:13Z
dc.date.issued2024
dc.departmentİnönü Üniversitesien_US
dc.description.abstractPurpose17 alpha Hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, typically diagnosed in late adolescence with symptoms of pubertal delay and hypertension. This study aimed to determine the clinical and laboratory characteristics of 17OHD cases and gather data on disease management.MethodsData from 97 nationwide cases were analyzed using the CEDD-NET web system. Diagnostic, follow-up findings, and final heights of patients were evaluated.ResultsMean age at admission was 13.54 +/- 4.71 years, with delayed puberty as the most common complaint. Hypertension was detected in 65% at presentation; hypokalemia was present in 34%. Genetic analysis revealed Exon 1-6 homozygous deletion as the most frequent mutation, identified in 42 cases. Hydrocortisone replacement was universal; pubertal replacement was administered to 66 cases. Antihypertensive treatment was required in 57 (90%) patients. Thirty-seven cases reached final height, with an average SD of 0.015 in 46,XX and -1.43 in 46,XY. Thelarche and pubarche did not develop properly in some cases despite estradiol treatment.ConclusionThis study represents the largest cohort of pediatric cases of 17-hydroxylase deficiency (17OHD) documented in the literature. Hypertension and hypokalemia can serve as guiding indicators for early diagnosis.The final height is typically considered to be normal. The relationship between genotype and phenotype remains elusive. The initial genetic test for exon 1-6 deletions may be MLPA in our region.en_US
dc.description.sponsorshipScientific and Technological Research Council of Tuerkiye (TUBITAK)en_US
dc.description.sponsorshipOpen access funding provided by the Scientific and Technological Research Council of Tuerkiye (TUBITAK).en_US
dc.identifier.doi10.1007/s12020-024-03962-6
dc.identifier.issn1355-008X
dc.identifier.issn1559-0100
dc.identifier.pmid39020240en_US
dc.identifier.scopus2-s2.0-85198831355en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttps://doi.org/10.1007/s12020-024-03962-6
dc.identifier.urihttps://hdl.handle.net/11616/102125
dc.identifier.wosWOS:001271754200001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofEndocrineen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subject17 alpha hydroxylase, 17,20en_US
dc.subjectlyase deficiencyen_US
dc.subjectdelayed pubertyen_US
dc.subjectcongenital adrenal hyperplasiaen_US
dc.subjectfinal heighten_US
dc.title17? Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohorten_US
dc.typeArticleen_US

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