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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)
The aim of this study was to evaluate the thyroid function alterations in a group of epileptic children taking antiepileptic drugs (AEDs). Patients demographic data and the free throxine (fT4) and thyroid-stimulating hormone (TSH) levels at the beginning of the treatment and at the third, sixth and ninth months of AED treatment were recorded(More)
OBJECTIVE Epidemiologic and clinical features of type 1 diabetes mellitus (T1DM) may show substantial differences among countries. The primary goal in the management of T1DM is to prevent micro- and macrovascular complications by achieving good glycemic control. The present study aimed to assess metabolic control, presence of concomitant autoimmune(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)
OBJECTIVE The aim of this study was to investigate the effect of hypo- and euthyroid status on serum cystatin C (CysC) levels in children and to explore whether CysC can be used as a marker of the thyroid status. METHODS Twenty five patients with hypothyroidism (10M, 15F; mean age:8.7±4.9 years) and 21 healhty age-matched controls (9M, 12F; mean age:(More)
OBJECTIVE Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric(More)
OBJECTIVE Standard deviation score or Z-score reference charts are used in some countries in preference to percentile charts and are considered as better tools in assessing children with measurements outside the accepted limits of normality. Growth data for Istanbul children have previously been reported as percentiles; hence, the aim of this study is to(More)
OBJECTIVE Premature thelarche (PT) refers to isolated onset of thelarche in girls younger than 8 years of age. Most cases have an onset under 2 years of age. We aimed to establish whether the onset of thelarche under 2 years of age certifies a transient clinical course, as suggested by several authors. METHODS Sixty-seven girls with an onset of PT under 2(More)
OBJECTIVE Polycystic ovary syndrome (PCOS) is a common endocrine problem in adolescents with an increasing prevalence of 30%. Pursuing new biomarkers with high specificity and sensitivity in the diagnosis of PCOS in adolescents is currently an active area of research. We aimed to investigate the diagnostic value of anti-Müllerian hormone (AMH), insulin-like(More)
OBJECTIVE Noonan syndrome (NS) is a multisystem disorder, and short stature is its most striking manifestation. Optimal growth hormone (GH) treatment for NS is still controversial. In this study, using a nationwide registration system, we aimed to evaluate the growth characteristics and the clinical features of NS patients in Turkey and their growth(More)