Browsing by Author "Beķere, Laine"

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    Challenges in the management of caudal duplication syndrome
    (2021-12) Beķere, Laine; Ģīlis, Ainārs; Ābola, Zane; Lidaka, Lasma; Department of Pathology
    Caudal duplication syndrome (CDS) is a rare developmental anomaly in which embryonic cloaca and notochord structures are duplicated [1]. Due to the diverse clinical manifestation and rarity of CDS, it is crucial to report every case and to share experience and outcomes of individually adjusted management plans. We report here the case of a 2-year-old girl born with duplication of the urogenital (bladder, urethra, uterus, vagina, vulva) and gastrointestinal (gallbladder, appendix vermiformis) systems. Additionally, coccygeal agenesis, lipomyelomeningocele and vertical talus were present. A thorough examination and urological reconstructive surgery were performed. While there may be a desire from patients, parents and healthcare specialists to modify all malformations to an anatomically correct state, the current opinion is that only anatomical variants that influence function should be modified. Consent from patients should be sought for decisions regarding more sensitive matters such as vulva surgery for cosmetic reasons or correction of anatomical variants without functional consequences.
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    Role of Single Nucleotide Variants in FSHR, GNRHR, ESR2 and LHCGR Genes in Adolescents with Polycystic Ovary Syndrome
    (2021-12-11) Lidaka, Lasma; Beķere, Laine; Rota, Adele; Isakova, Jekaterina; Lazdāne, Gunta; Ķīvīte-Urtāne, Anda; Dzīvīte-Krišāne, Iveta; Kempa, Inga; Dobele, Zane; Gailīte, Linda; Department of Obstetrics and Gynaecology; Scientific Laboratory of Molecular Genetics; Institute of Public Health
    Background: Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women, affecting up to 16.6% of reproductive-age women. PCOS symptoms in adolescents comprise oligomenorrhoea/amenorrhoea and biochemical and/or clinical hyperandrogenism. Long-term health risks of PCOS patients include infertility, metabolic syndrome, type 2 diabetes and cardiovascular disease. Genetic factors have been proven to play a role in development of the syndrome and its symptoms. Objective: To investigate single nucleotide variants (SNVs) in the GNRHR, ESR2, LHCGR and FSHR genes in adolescent patients with PCOS and their association with PCOS symptoms. Methods: We conducted a cross-sectional study comprising of 152 adolescents: 63 patients with PCOS, 22 patients at risk of developing PCOS and 67 healthy controls. Participants were recruited from out-patients attending a gynaecologist at the Children’s Clinical University Hospital, Riga, Latvia, between January 2017 and December 2020. Genomic DNA was extracted from whole blood, and SNVs in the GNRHR, ESR2, LHCGR and FSHR genes were genotyped. The distributions of SNV genotypes were compared among the three groups and genotype-phenotype associations within the PCOS group were evaluated. Results: No statistically significant differences were found in the distributions of genotypes for GNRHR (rs104893837), ESR2 (rs4986938), LHCGR (rs2293275) and FSHR (rs6166, rs6165, rs2349415) among PCOS patients, risk patients and healthy controls. Within the PCOS group, ESR2 rs4986938 minor allele homozygous patients had a significantly higher level of total testosterone than major allele homozygous patients and heterozygous patients. A significantly higher total testosterone level was also observed in PCOS patients carrying the LHCGR rs2293275 minor allele compared with major allele homozygous patients. Conclusions: The SNVs ESR2 rs4986938 and LHCGR rs2293275 play a role in the phenotypic characteristics of PCOS. To fully uncover their influence on the development of PCOS and its symptoms, further studies of larger cohorts and a follow up of this study sample through to adulthood are required. Furthermore, studies of adolescent PCOS patients conducted prior to the latest European Society of Human Reproduction and Embryology (ESHRE) criteria (2018) should be re-evaluated as the study groups might include risk patients according to these updated criteria, thereby potentially significantly impacting the published results.