Growth charts for Mexican children with Down syndrome.

We present the results of a prospective, observational, descriptive, cross-sectional study performed on a Mexican population of 1867 children, aged 0-18 years, with Down syndrome (DS), observed between 2013 and 2019. A total of 9968 measurements of height, weight, and head circumference, as well as calculation of body mass index (BMI) were used to create growth charts and tables of percentiles. Growth curves were elaborated using Cole's LMS method. The mean weight and length at birth did not differ by sex: the weight was 2750 g for boys and 2710 g for girls (p > 0.05), and the length was 48.2 cm for boys and 47.9 cm for girls (p > 0.05). The mean final height at 18 years was different by sex: 149.6 cm for boys and 141.2 cm for girls. The average BMI at 18 years was 24.2 kg/m2 for boys and 21.9 kg/m2 for girls. In a comparison with U.S. growth charts, we find that the Mexican population has lower height and weight. These are the first growth curves for the Mexican population with DS. They can be used by health care providers to optimize preventive care by monitoring children with DS for the early identification of factors that affect individual growth.

Low bone mineral density and renal malformation in Mexican patients with Turner syndrome are associated with single nucleotide variants in vitamin D-metabolism genes.

Turner syndrome (TS) is a common genetic disorder. TS-phenotype includes short stature, gonadal dysgenesis, cardiac and kidney malformations, low bone mineral density (low-BMD) and thyroiditis. TS-phenotype varies from patient to patient and the cause is not clear, the genomic background may be an important contributor for this variability. Our aim was to identify the association of specific single nucleotide variants in the PTPN22, VDR, KL, and CYP27B1 genes and vitamin D-metabolism, heart malformation, renal malformation, thyroiditis, and low-BMD in 61 Mexican TS-patients. DNA samples were genotyped for SNVs: rs7975232 (VDR), rs9536282 (KL), rs4646536 (CYP27B1), and rs1599971 (PTPN22) using the KASP assay. Chi-square test under a recessive model and multifactorial dimensionality reduction method were used for analysis. We found a significant association between renal malformation and the rs9536282 (KL) variant and between rs4646536 (CYP27B1) and low-BMD, these variants may have modest effects on these characteristics but contribute to the variability of the TS phenotype. In addition, we identified gene-gene interactions between variants in genes KL, CYP27B1 and VDR related to vitamin D-metabolism and low-BMD in TS-patients. Our results support the idea that the genetic background of TS-patients contributes to the clinical variability seen in them.