Browsing by Author "Lidaka, Lasma"

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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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    Health-related quality of life and binge eating among adolescent girls with PCOS
    (2022-03) Lidaka, Lasma; Lazdane, Gunta; Kivite-Urtane, Anda; Gailite, Linda; Dzivite-Krisane, Iveta; Stokenberga, Ieva; Department of Obstetrics and Gynaecology; Institute of Public Health; Department of Public Health and Epidemiology; Scientific Laboratory of Molecular Genetics
    Background: Polycystic ovary syndrome (PCOS) affects 3–8% of adolescents. It is characterized by hyperandrogenism and oligoovulation/anovulation. PCOS has a negative impact on health-related quality of life (HRQoL). However, the extents to which factors influence total HRQoL of adolescents are not known. Adult PCOS patients have a higher incidence of binge eating than the general reproductive-age female population. Limited data on binge eating in adolescents with PCOS are available. Aim of this study was to investigate how PCOS and its associated factors, including binge eating, affect the HRQoL of adolescent girls. Methods: This case-control study recruited 63 adolescent girls 13–18 years of age with PCOS and 66 age-matched healthy controls. The PCOS health-related quality of life questionnaire (PCOSQ) and Binge Eating Scale (BES) were used. Multiple linear regression was executed to establish exact predictors and their effect on total HRQoL. Results: HRQoL was significantly lower in adolescents with PCOS than controls (4.9 (interquartile range (IQR) 1.5) vs. 5.8 (IQR 0.9) points). The lowest scores were found in the body hair and weight domains. BES results were not significantly higher in the PCOS group than in the control group (p = 0.727). The main predictors for total HRQoL were PCOS diagnosis per se (β = –1.002; p < 0.001), BES score (β = –0.27; p = 0.004) and body mass index (BMI) percentile (β = –0.007; p = 0.013). Conclusions: The lower HRQoL in adolescents with PCOS is attributable to the diagnosis of PCOS, BES score and BMI percentile, confirming the importance of tailoring clinical interventions and counselling to address the domains (i.e., symptoms of hirsutism and weight concerns) causing distress and lowering HRQoL. Further implementation research is required to evaluate the impact of targeted interventions on the HRQoL of adolescent girls with PCOS.
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    Non-classical congenital adrenal hyperplasia-causing alleles in adolescent girls with pcos and in risk group for pcos development
    (2021-05-28) Lidaka, Lasma; Bekere, Laine; Lazdane, Gunta; Dzivite-Krisane, Iveta; Kivite-Urtane, Anda; Gailite, Linda; Faculty of Medicine; Department of Obstetrics and Gynaecology; Institute of Public Health; Department of Public Health and Epidemiology; Scientific Laboratory of Molecular Genetics
    Background: 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.
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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.