Normal-weight obesity (NWO) syndrome has been shown to be associated with cardiometabolic dysfunction. However, little is known regarding this potential relationship in Latin American children and adolescents. The aim of this study was two-fold: (i) to investigate whether Colombian youth with NWO syndrome have a poorer cardiometabolic profile and physical fitness performance than normal-weight lean (NWL) peers; and (ii) to determine if physical fitness levels are related to prevalence of normal-weight obesity in youth. This was an analytical cross-sectional study of 1919 youths (9–179 years old, 53.0% girls) in the capital area of Colombia. NWO was defined as a body mass index < 25 kg/m² and a validated body fat percentage above the sex-age-specific 90th percentile for Colombian children and adolescents. Body fat was estimated using bioelectrical impedance analysis, cardiorespiratory fitness (CRF) was estimated using the 20-meter shuttle run test, and muscular fitness with the handgrip test. Biochemical profile blood samples were collected for cardiometabolic risk factors. After adjusting for chronological age, pubertal stage, and Mediterranean diet adherence, the NWO group (boys and girls) had significantly higher values for cardiometabolic risk factors, and waist circumference (WC) than the NWL group. The prevalence of NWO was lower in youth classified with healthy CRF (boys, odds ratio (OR) = 0.54, 95% confidence interval (CI) 0.37 to 0.78; girls, OR = 0.35, 95% CI 0.24 to 0.50), p < 0.001. Our findings indicate that using only body mass index for the assessment of cardiometabolic risk likely misrepresents true adiposity and suggest the need to include the assessment of body fat in the routine clinical evaluation of individuals during childhood and adolescence.

Polycystic ovary syndrome (PCOS) is an endocrine and metabolic disorder with high prevalence in women around the world. The identification of single-nucleotide polymorphisms (SNPs) through genome-wide association studies has classified it as a polygenic disease. Most studies have independently evaluated the contribution of each SNP to the risk of PCOS. Few studies have assessed the effect of epistasis among the identified SNPs. Therefore, this exploratory study aimed to evaluate the interaction of 27 SNPs identified as risk candidates and their contribution to the pathogenesis of PCOS. The study population included 49 control women and 49 women with PCOS with a normal BMI. Genotyping was carried out through the MassARRAY iPLEX single-nucleotide polymorphism typing platform. Using the multifactor dimensionality reduction (MDR) method, the interaction between SNPs was evaluated. The analysis showed that the best interaction model (p < 0.0001) was composed of three loci (rs11692782-FSHR, rs2268361-FSHR, and rs4784165-TOX3). Furthermore, a tendency towards synergy was evident between rs2268361 and the SNPs rs7371084–rs11692782–rs4784165, as well as a redundancy in rs7371084–rs11692782–rs4784165. This pilot study suggests that epistasis may influence PCOS pathophysiology. Large-scale analysis is needed to deepen our understanding of its impact on this complex syndrome affecting thousands of women.

Polycystic ovary syndrome (PCOS) is the most prevalent endocrine disorder in premenopausal women. Although the etiology of PCOS remains uncertain, the role of single nucleotide polymor-phisms (SNPs) in its pathogenesis has been extensively described. The second large genome-wide association study (GWAS) conducted in a Chinese population identified that variants in the INSR (rs2059807), TOX3 (rs4784165), YAP1 (rs1894116), HMGA2 (rs2272046), and ERBB3 (rs2292239) genes are associated with PCOS. In this exploratory study, we evaluated the genetic contribution of five polymorphisms in these genes in a sample of Colombian women. Forty-nine control women and forty-nine women with PCOS were included. Genotypic and allelic frequencies were calcu-lated under different inheritance models, and genotype/phenotype analysis was performed. We found that rs4784165-TOX3 was negatively associated with PCOS risk. Additionally, the GG+AA genotypes at rs2059807-INSR were linked to higher fasting blood glucose levels, while the GA genotype was associated with a greater number of total antral follicles. The AC genotype at rs2272046-HMGA2 was associated with older age and larger total ovarian volume. This is the first pilot study in Colombia to explore the relationship between these gene polymorphisms and PCOS, providing the first insights for the country.

To compare Human Papillomavirus (HPV) detection in first-void urine (FVU) and cervicovaginal samples and to analyze factors associated with cervicovaginal HPV infection among women in Tunja, Colombia. A cross-sectional study was conducted among 161 women aged 20–65 years residing in Tunja, Colombia. Samples and data were collected between September and November 2022 in a clinical laboratory. Cervicovaginal and FVU samples were obtained for HPV genotyping using the INNO-LiPA HPV Genotyping Extra II kit. Concordance, sensitivity, specificity, and associations with sociodemographic and gynecological variables were evaluated. Crude and adjusted odds ratios (OR) were estimated using logistic regression. HPV prevalence was 29.19% in cervicovaginal samples and 32.91% in urine samples. Genotypes 52 and 68 were the most frequent in both sample types. Concordance between tests was weak (kappa = 0.39). Sensitivity and specificity of urine-based detection were 61.70% and 78.94%, respectively. In the multivariable model, only pregnancy history remained independently associated with cervicovaginal HPV infection. HPV infection prevalence was moderate, with high-risk genotypes detected in both sample types. The history of pregnancy was the only independent factor associated with cervicovaginal HPV infection. HPV detection in urine showed limited diagnostic performance, highlighting the need to optimize urine screening strategies.