Objectives: The effects of thyroid hormones on body composition are well-known. We aimed to examine the body composition of children with and without Hashimoto's thyroiditis (HT) by bioelectrical impedance analysis (BIA) while they were still euthyroid.
Methods: Between the ages of 5 and 18, 53 girls and 12 boys in each group, 65 children with HT, and 65 healthy children were included in this study.
21-hydroxylase deficiency stands as the most prevalent form of congenital adrenal hyperplasia, primarily resulting from mutations in the CYP21A2 gene. On the other hand, mutations within the CYP17A1 gene lead to 17α-hydroxylase/17,20-lyase enzyme deficiencies. The scarcity of 17-OH deficiency is noteworthy, accounting for less than 1% of all congenital adrenal hyperplasia cases.
View Article and Find Full Text PDFCleft Palate Craniofac J
February 2024
Cleidocranial dysplasia (CCD) is a rare genetic condition that affects the bones and teeth. In our study, we presented three cases of CCD, including one with a new mutation and two with a family history. Case 1 had a unique heterozygous frameshift mutation (NM_001015051,c.
View Article and Find Full Text PDFIntroduction: Aggrecanopathies are rare disorders associated with idiopathic short stature. They are caused by pathogenic changes in the gene located on chromosome 15q26. In this study, we present a case of short stature caused by mutations in the gene.
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
February 2022
Objectives: Coronavirus disease 2019 has caused a major epidemic worldwide, and lockdowns became necessary in all countries to prevent its spread. This study aimed to evaluate the effects of staying-at-home practices on the metabolic control of children and adolescents with type 1 diabetes during the pandemic period.
Materials And Methods: Eighty-nine patients younger than 18 years old who were diagnosed with type 1 diabetes at least one year before the declaration of the pandemic were included in the study.