Learn 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)
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 Normosmic idiopathic hypogonadotropic hypogonadism (nIHH) is characterized by failure of initiation or maintenance of puberty due to insufficient gonadotropin release, which is not associated with anosmia/hyposmia. The objective of this study was to determine the distribution of causative mutations in a hereditary form of nIHH. METHODS In this(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)
CONTEXT Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular causes have been reported, often with overlapping clinical and biochemical features. The relative prevalence of these conditions is not(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 To evaluate the epidemiologic, clinical and laboratory characteristics of a group of children with type 1 diabetes mellitus (T1DM) living in a Turkish city. METHODS The records of 395 (boys/girls: 199/196) children with newly diagnosed T1DM hospitalized in the years 1985-2004 were evaluated retrospectively. The data were assessed by gender and(More)
CONTEXT An association between low birth weight, insulin resistance (IR), dyslipidemia, and atherogenesis has been shown in girls with precocious adrenarche (PA). OBJECTIVE To evaluate whether girls with PA born appropriate for gestational age (AGA) have increased risk for metabolic complications at initial evaluation. DESIGN/METHODS We conducted a(More)
Permanent neonatal diabetes mellitus (PNDM) is a rare condition presenting before six months of age. Mutations in the genes encoding the ATP-sensitive potassium (KATP) channel are the most common causes. Sulfonylurea (SU) therapy leads to dramatic improvement in diabetes control and quality of life in most patients who carry these mutations. Here, we report(More)
22q11 deletion is one of the most frequently encountered genetic syndromes. The phenotypic spectrum shows a wide variability. We report a boy who presented at age 11.9 years with seizures due to hypocalcemia as a result of hypoparathyroidism. FISH analysis revealed a heterozygote deletion at 22q11.2. Positive findings for the syndrome were delayed speech(More)
  • 1