Non-classical congenital adrenal hyperplasia-causing alleles in adolescent girls with pcos and in risk group for pcos development

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dc.contributor.authorLidaka, Lasma
dc.contributor.authorBekere, Laine
dc.contributor.authorLazdane, Gunta
dc.contributor.authorDzivite-Krisane, Iveta
dc.contributor.authorKivite-Urtane, Anda
dc.contributor.authorGailite, Linda
dc.contributor.institutionFaculty of Medicine
dc.contributor.institutionDepartment of Obstetrics and Gynaecology
dc.contributor.institutionInstitute of Public Health
dc.contributor.institutionDepartment of Public Health and Epidemiology
dc.contributor.institutionScientific Laboratory of Molecular Genetics
dc.date.accessioned2021-07-01T13:55:01Z
dc.date.available2021-07-01T13:55:01Z
dc.date.issued2021-05-28
dc.descriptionFunding Information: Funding: The study was financially supported by a Riga Stradins University internal research grant. Publisher Copyright: © 2021 by the authors. Licensee MDPI, Basel, Switzerland.
dc.description.abstractBackground: Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women. Depending on the diagnostic criteria applied, it occurs in up to 16.6% of the general female population. Congenital adrenal hyperplasia includes a group of autosomal recessive disorders, the most common of which is non-classical congenital adrenal hyperplasia (NCAH) caused by mutations in the CYP21A2 gene. PCOS and NCAH have similar clinical manifestations (hyperandrogenemia, i.e., hirsutism, acne, alopecia, and increased androgen levels in the blood) and potential impact on long-term health (infertility, increased risk of type 2 diabetes, and cardiovascular disease. Consequently, it is thought that NCAH mutations in the heterozygous state may play a role in PCOS development and phenotypic expression. Objective: To determine the prevalence of the most common pathogenic alleles of the CYP21A2 gene in adolescents with PCOS and adolescents at risk of PCOS development, and to compare the results with healthy adolescents matched for gynecological age. Methods: A cross-sectional study was conducted with 55 PCOS patients, 23 risk patients (with hyperandrogenism but a normal menstrual cycle), and 49 healthy adolescents. Genetic variations in the CYP21A2 gene were analyzed using a standard Multiplex Ligation-dependent Probe Amplification test (SALSA MLPA Probemix P050-C1 CAH; MRC Holland). Results: No significant differences were found among the three groups regarding the frequency of carriers of NCAH variations in the heterozygous state. It was found that the I172N carrier in the PCOS group had a significantly higher Global Acne Grading Scale score than PCOS patients without this variation (p = 0.038). Within the control group of healthy adolescents, compound heterozygous carriers (IVS2-12A > G and-113G > A) had a significantly higher body mass index than non-carriers (p = 0.036). Conclusion: We found no differences in the incidence of NCAH-causing variations in the heterozygous state in adolescent PCOS patients, risk adolescents (with hirsutism but normal menstruation), and healthy adolescents. Future studies of larger cohorts and rarer pathogenic CYP21A2 gene variations are required.en
dc.description.statusPeer reviewed
dc.format.extent11
dc.format.extent249790
dc.identifier.citationLidaka, L, Bekere, L, Lazdane, G, Dzivite-Krisane, I, Kivite-Urtane, A & Gailite, L 2021, 'Non-classical congenital adrenal hyperplasia-causing alleles in adolescent girls with pcos and in risk group for pcos development', Diagnostics, vol. 11, no. 6, 980. https://doi.org/10.3390/diagnostics11060980
dc.identifier.doi10.3390/diagnostics11060980
dc.identifier.issn2075-4418
dc.identifier.urihttps://dspace.rsu.lv/jspui/handle/123456789/5794
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85107834507&partnerID=8YFLogxK
dc.language.isoeng
dc.relation.ispartofDiagnostics
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectAdolescent
dc.subjectAlleles
dc.subjectCYP21A2
dc.subjectNCAH
dc.subjectPCOS
dc.subject3.2 Clinical medicine
dc.subject1.1. Scientific article indexed in Web of Science and/or Scopus database
dc.subjectClinical Biochemistry
dc.subjectSDG 3 - Good Health and Well-being
dc.titleNon-classical congenital adrenal hyperplasia-causing alleles in adolescent girls with pcos and in risk group for pcos developmenten
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article

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