Objective: Thyroid dyshormonogenesis is a genetically heterogeneous group of inherited disorders in the enzymatic cascade of thyroid hormone synthesis that result in congenital hypothyroidism (CH). Thyroid peroxidase gene (TPO) mutations are one of the most common causes of thyroid dyshormonogenesis. The aim of this study was to identify TPO gene defects in a cohort of patients with thyroid dyshormonogenesis from Slovenia, Bosnia, and Slovakia. Design and methods: Forty-three patients with permanent CH and orthoptic thyroid glands from 39 unrelated families participated in the study. Mutational analysis of the TPO gene and part of its promoter consisted of single-stranded conformation polymorphism analysis, sequencing, and restriction fragment length polymorphism (RFLP) analysis. Results: TPO gene mutations were identified in 46% of participants. Seven different mutations were identified, four mutations of these being novel, namely 613COT (R175X), 1519_1539del (A477_N483del), 2089GOA (G667S), and 2669GOA (G860R). Only a single allele mutation was identified in 65% of the TPO mutation carriers.
Conclusions:The results showed a higher prevalence of TPO gene mutations in thyroid dyshormonogenesis when compared with published studies. The high percentage of single allele mutations implied possible intronic or regulatory TPO gene mutations or monoallelic expression.
Girls who experienced early menarche are significantly more often overweight/obese. Overweight/obesity may be considered as one of the predictors for the early occurrence of menarche.
The results of the assessment by the PedsQL 3.0 Cardiac Module, a cardiac disease-specific instrument for children with CHD, indicate that HRQOL is poorest in children with complex CHD. Therefore, it is necessary to take the appropriate preventive measures for these patients, which include early (timely) cardiosurgical intervention and active psychological support to limit the negative impact of serious forms of CHD on the quality of life of these children.
Our results show that psychological trauma, physical injury and low socioeconomic status, which provoked by the events of war, delay the age of menarche.
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