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21-Hydroxylase deficiency is a recessively inherited disorder resulting from mutations in the CYP21 gene. The CYP21 gene is located along with the CYP21P pseudogene in the human leukocyte antigen major histocompatibility complex region on chromosome 6. Molecular diagnosis is difficult due to the 98% similarity of CYP21 and CYP21P genes and the fact that(More)
BACKGROUND Assessment of pubertal stages should be related to updated and reliable referance data from the same background population. OBJECTIVE The aim of this study was to provide normative data for the onset and tempo of puberty in Turkish girls and analyze the growth parameters in puberty. METHODS The analyses are based on data that were collected(More)
Retesting of patients with growth hormone (GH) deficiency (GHD), especially those with idiopathic GHD, has yielded normalization of the results in several studies. The aim of this study was to reevaluate patients diagnosed as GHD at completion or reconfirm the diagnosis before completion of GH treatment by retesting with provocative tests, and to evaluate(More)
We evaluated the frequency of renal malformations in relation to nonmosaic 45,X (group A, 45 patients, 54.9%) and mosaic/structural abnormalities of X (group B, 37 patients, 45.1%) in 82 Turkish patients with Turner syndrome (TS). Ultrasonography of the kidneys and collecting system was performed in all patients. Of the 82 patients, 31 had different renal(More)
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) can occur as a result of mutations in the subunits that form the ATP-sensitive potassium channel (K+ATP) in pancreatic beta-cells which play a major role in modulating insulin secretion from the beta-cells. Mutations have been shown in the genes for these subunits, namely for the plasma membrane(More)
BACKGROUND AND OBJECTIVE Being born as large for gestational age (LGA) has an increased risk of developing insulin resistance. Hypoadiponectinaemia is associated with insulin resistance. The aim of this study was to evaluate adiponectin levels and insulin resistance in association with body composition in LGA born non-obese children at prepubertal ages. (More)
BACKGROUND Congenital adrenal hyperplasia (CAH) due 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder. It is caused by defects in the CYP21A2 gene. OBJECTIVE Our aim was to determine the frequency of common gene mutations and to evaluate genotype-phenotype correlations in Turkish 21-OHD patients. METHODS Molecular analysis of(More)
AIM To construct the body mass index reference curves for Turkish children aged 6 to 18 y, and to determine the prevalence of overweight and obesity. SUBJECTS AND METHODS Height and weight measurements of healthy schoolchildren (1,100 boys, 1,019 girls) were obtained biannually. Body mass index was calculated from 11,648 height and weight measurements.(More)
AIM To create up-to-date reference standards for Turkish children, and to compare these with growth standards for US children (CDC 2000 Growth Charts) and with previous local data. SUBJECTS AND METHODS Height and weight measurements of 1100 boys and 1020 girls were obtained by biannual visits to six schools located in relatively well-off districts of(More)
This study was planned to search for the presence of possible tubular bone abnormalities in familial short stature (FSS) as has been previously noted in some reports. Twenty-five (17 male, 8 female) children with FSS aged 10.0 SD 3.6 years were taken as the study group, and 23 (14 male, 9 female) children of normal stature aged 10.6 SD 2.7 years comprised(More)