Correlational Analysis of Bone Health Status and Vitamin D-Related Biomarkers in Women Working in Agriculture

Objective@#The purpose of this study was to investigate the status of bone health in women working in agriculture and analyze the associations between bone health and various vitamin D-related biomarkers. @*Methods@#This observational study enrolled women working in agriculture (n = 210) and control occupations (n = 180). The concentration of serum total 25-hydroxy vitamin D [25(OH)D] was measured using the Elecsys Vitamin D Total Kit, and serum vitamin D-binding protein (VDBP) was measured by enzyme-linked immunosorbent assay (ELISA). Along with albumin, 25(OH)D and VDBP were used to calculate the concentrations of bioavailable and free 25(OH)D. Bone mineral density (BMD) and T-score were measured at lumbar 1–4 and the femur neck using dual-energy X-ray absorptiometry. To identify factors affecting BMD, log-linear model and linear regression analysis were performed for statistical analysis. @*Results@#Agricultural women workers showed higher serum concentrations of bioavailable 25(OH)D (12.8 ± 3.7 vs. 8.7 ± 5.1 ng/mL) and lower VDBP concentrations (201.8 ± 45.0 vs. 216.0 ± 68.2 μg/ mL) than control women. The association between these two vitamin D related-biomarkers and femur neck BMD were confirmed through univariable and multivariable linear model analysis. Although lumbar BMD did not differ between groups, the agricultural group displayed a lower femur BMD and a 4.3-fold increase in the risk of osteoporosis compared with the control group. @*Conclusions@#Women working in agriculture showed lower femur BMD than the control group. Of the vitamin D-related biomarkers tested, bioavailable 25(OH)D and VDBP were associated with BMD. As bioavailable 25(OH)D levels are affected mainly by VDBP levels, VDBP may play a role in the lower femur neck BMD values observed in the agricultural group. Thus, the measurement of VDBP concentration might be considered a simple and non-invasive method for measuring bone health status.

Triploidy that escaped diagnosis using chromosomal microarray testing in early pregnancy loss: Two cases and a literature review

About 15% to 20% of all clinically recognized pregnancies result in spontaneous abortion or miscarriage, and chromosomal anomalies can be identified in up to 50% of first trimester miscarriages. Chromosomal microarray analysis (CMA) is currently considered first-tier testing for detecting fetal chromosomal abnormalities and is supported by the absence of cell culture failure or erroneous results due to cell contamination in pregnancy loss. Triploidy is a lethal chromosome number abnormality characterized by an extra haploid set of chromosomes. Triploidy is one of the most common chromosomal aberrations in first trimester spontaneous abortions. Here, we report two cases of triploidy abortion that were not detected using array comparative genomic hybridization-based CMA. The aim of this report was to remind clinicians of the limitations of chromosomal testing and the misdiagnosis that can result from biased test selection.

Clinicopathological features of premature ovarian insufficiency associated with chromosome abnormalities

PURPOSE: The aim of this study was to investigate the clinicopathological features of premature ovarian insufficiency (POI) associated with chromosomal abnormalities. MATERIALS AND METHODS: This was a retrospective study of POI patients with chromosomal abnormalities diagnosed between January 2009 and December 2017. The definition of POI is based on hypergonadotropinism of 40 or greater in follicle stimulating hormone (FSH) measurements at age 40 years or less. FSH was measured twice at least 4 weeks apart. Karyotyping using peripheral blood for chromosomal testing was conducted in all patients diagnosed with POI. We analyzed the clinical characteristics and genetic causes of patients who were diagnosed with POI. RESULTS: Forty patients were diagnosed with POI including 9 (22.5%) with identified chromosomal abnormalities. The mean age at diagnosis was 23.1±7.8 years (ranging between 14 and 39). Three patients did not experience menarche. The presenting complaints were short stature in one case, one case of amenorrhea with ambiguous external genitals, one case of infertility, and six related to menstruation such as oligomenorrhea or irregular rhythm. Turner syndrome was diagnosed in four cases, Xq deletion in one case, trisomy X in two cases, and 46,XY disorder of sexual development in two other patients. CONCLUSION: Patients diagnosed with POI carrying the same type of chromosomal abnormality manifest different phenotypes. The management protocol also needs to be changed depending on the diagnosis. A karyotype is indicated for accurate diagnosis and proper management of POI in patients, with or without stigmata of chromosomal abnormalities.

Analysis of vitamin D-binding protein (VDBP) gene polymorphisms in Korean women with and without endometriosis / 대한생식의학회지

OBJECTIVE: Vitamin D-binding protein (VDBP) mediates various biological processes in humans. The goal of this study was to investigate whether VDBP gene polymorphisms could predispose Korean women to endometriosis. METHODS: We prospectively enrolled women with endometriosis (n = 16) and healthy controls (n = 16). Total serum 25-hydroxyl vitamin D (25(OH)D) concentrations were measured using an Elecsys vitamin D total kit. Levels of bioavailable and free 25(OH)D were calculated. Concentrations of VDBP were measured using a vitamin D BP Quantikine ELISA kit. DNA was extracted using a DNeasy blood & tissue kit. Two single-nucleotide polymorphisms (SNPs; rs4588 and rs7041) in GC, the gene that codes for VDBP, were analyzed using a TaqMan SNP genotyping assay kit. The functional variant of VDBP was determined based on the results of the two SNPs. RESULTS: Gravidity and parity were significantly lower in the endometriosis patients than in the control group, but serum CA-125 levels and the erythrocyte sedimentation rate were significantly higher. Total serum 25(OH)D levels in the endometriosis patients were significantly lower than in the control group. However, serum bioavailable 25(OH)D, free 25(OH)D, and VDBP levels did not differ significantly between the endometriosis and control groups. The genotypes and allele frequencies of GC were similar in both groups. CONCLUSION: Korean women with endometriosis had lower total serum 25(OH)D concentrations than controls. Neither serum VDBP concentrations nor polymorphisms in the gene coding for VDBP were associated with endometriosis. Further studies are needed to investigate the pathophysiology and clinical implications of 25(OH)D and VDBP in endometriosis.