RESUMO
BACKGROUND: Reference values according to age groups for each population are needed for the diagnosis and follow-up of pediatric patients with thyroid diseases. Such values are unknown for Mexican infants and children younger than six years. OBJECTIVE: To determine the reference values of total TT3, FT4 and TSH by chemiluminescence immunoassay in infants and children younger than six year old in Northeastern Mexico. MATERIAL AND METHODS: Thyroid hormone serum levels were determined by chemiluminescence immunoassay in healthy infants and children younger than six years old. RESULTS were analyzed according to gender in seven age groups: Newborns (NB), 1 to 6, 7 to 12, 13 to 18, 19 to 23, 24 to 35, and 36 to 71 months. RESULTS: A total of 405 infants and children were included, 209 male and 196 female, 1.6 ± 1.4 years of age (4 days to 5.6 years). Thyroid hormones: Although there were not significant differences according to gender, in NB TSH and FT4 serum levels were higher (p = 0.001 and p = 0.000, respectively) and TT3 levels were lower (p = 0.000). CONCLUSIONS: Serum levels of TSH and TT4 were higher and TT3 lower in newborns, which has been previously reported even for other measurement methods and other populations. These results allow counting with reference values of these hormones for this region.
RESUMO
A systematic search for a hidden Y-chromosome mosaicism, in Turner syndrome (TS) patients is justified by the evaluation of the risk of development of germ cell tumors. In this study, we analyzed cryptic Y-chromosome derivatives by polymerase chain reaction (PCR) coupled with fluorescence in situ hybridization (FISH) using Y-specific sequences in patients with TS, and validated this methodology. Unrelated patients with TS (n=32) of Mexican mestizo ethnic origin were diagnosed using cytogenetic analysis. Clinical assessment, endocrine evaluation, karyotyping, FISH and PCR analysis of the Y-chromosomal loci were performed. We found that 9.4% (3 out of 32) patients with TS had Y-chromosome material. Two patients showed Y-chromosome by conventional cytogenetics. One patient had no Y-chromosome by initial karyotyping (45, X) but was positive by lymphocyte PCR DNA analysis of the Y-sequence-specific sex-determining region Y (SRY) gene. Our results suggest that the detection of the Y-chromosome material using sensitive methods, such as PCR coupled with FISH, should be carried out in all patients with TS and should not be limited to TS patients with cytogenetically identifiable Y-chromosome and/or virilization.