The Results of 16 Years of Iodization: Assessment of Iodine Deficiency Among School-age Children in Antalya, Turkey.

Objective: Iodine deficiency (ID) continues to be a problem around the world. This study investigated the prevalence of ID and goiter among school-age children in the city center of Antalya, Turkey. The aim was to investigate the effect of an iodization program, which had been running for sixteen years, on nutritional iodine status in this population.

Remarkable Increase in the Prevalence of Overweight and Obesity Among School Age Children in Antalya, Turkey, Between 2003 and 2015.

Objective: Childhood obesity (OB) is an acknowledged global problem with increasing prevalence reported around the world. We conducted this study with the aim of determining the local trend in OB and overweight (OW) prevalence in the last decade and to observe the alteration of OB and OW prevalence by age group. An additional aim was to construct new age- and gender-specific body mass index (BMI) reference percentile charts for Turkish children living in the city center of Antalya.

Urinary phthalate metabolite concentrations in girls with premature thelarche.

In girls, breast development before eight years of age is called "premature thelarche (PT)". There are few studies in literature that show the interaction between PT and phthalate exposure. The aim of this study was to determine the urinary levels of di-(2-ethylhexyl) phthalate (DEHP) metabolites and other phthalate metabolites in girls with PT.

A Novel Null Mutation in P450 Aromatase Gene (CYP19A1) Associated with Development of Hypoplastic Ovaries in Humans.

Objective: The CYP19A1 gene product aromatase is responsible for estrogen synthesis and androgen/estrogen equilibrium in many tissues, particularly in the placenta and gonads. Aromatase deficiency can cause various clinical phenotypes resulting from excessive androgen accumulation and insufficient estrogen synthesis during the pre- and postnatal periods. In this study, our aim was to determine the clinical characteristics and CYP19A1 mutations in three patients from a large Turkish pedigree.

Try235Phe homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Turkish patient.

Steroid 5-a reductase type 2 isoenzyme (SRD5A2) deficiency is a male-limited autosomal recessive disorder that results in decreased conversion of testosterone to dihydrotestosterone with various de.gree of incomplete virilization in affected 46, XY infants. No clear genotype-phenotype relationship has been reported till date; moreover, the same mutation can result in considerable heterogeneity in clinical manifestations.

A combination of nifedipine and octreotide treatment in an hyperinsulinemic hypoglycemic infant.

Hyperinsulinemic hypoglycemia (HH) is the commonest cause of persistent hypoglycemia in the neonatal and infancy periods. Mutations in the ABCC8 and KCNJ11 genes, which encode subunits of the ATP-sensitive potassium channel in the pancreatic beta cell, are identified in approximately 50% of these patients. The first-line drug in the treatment of HH is diazoxide.

Urinary bisphenol a levels in girls with idiopathic central precocious puberty.

Objective: Bisphenol A (BPA) is an industrial chemical, particularly used to harden plastics. BPA is thought to have negative health effects on both laboratory animals and humans. Consider ing the decline in age of onset of puberty noted in recent years, particularly among girls, the importance of BPA as an estrogenic endocrine disruptor has increased.

Investigation of enterovirus infections, autoimmune factors and HLA genotypes in patients with T1DM.

Aim: Besides of genetic and autoimmun factors, role of viral infections have been investigated in pathogenesis of type 1 diabetes mellitus (T1DM). The aim of this study was to determine enterovirus (EV) infections, glutamic acid decarboxylase (GAD) antibody positivity and HLA genotype distribution in T1DM patients with respect to corresponding healthy subjects. This is the first study in Turkey designed to investigate enteroviral infections and autoimmune and genetic factors together in this group of patients.

Clinical expression of familial Williams-Beuren syndrome in a Turkish family.

Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by distinctive facial features, intellectual disability with a typical neurobehavioral profile, cardiovascular anomalies, and occasional infantile hypercalcemia. Majority of cases occur sporadically, and only a few cases of familial WBS have been reported. Although pre- and post-natal growth retardation is a common clinical feature of the syndrome, growth hormone deficiency is detected only in a few patients.

A novel DAX-1 mutation presented with precocious puberty and hypogonadotropic hypogonadism in different members of a large pedigree.

Patients with DAX-1 gene mutations on chromosome Xp21 usually present with adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Yet, neither correlation between the type of mutation and the age of onset of the disease nor mechanism of the mutation on puberty is fully understood. Here, we report a novel non-sense p.

Intrathyroidal ectopic thymic tissue may mimic thyroid cancer: a case report.

Ectopic intrathyroidal thymus tissue that may be present as a thyroid nodule is rarely reported. We present a case of a 4-year-old boy with a solitary thyroid nodule. Real-time thyroid ultrasound showed a calcified nodule in the right lobe.

CTLA-4 (+49A/G) polymorphism and type-1 diabetes in Turkish children.

Objective: To evaluate the contribution of cytotoxic T-Iymphocyte antigen-4(CTLA-4)+49A/G polymorphism to the susceptibility to type-1 diabetes (T1D) in Turkish children.

Methods: A case-control study was designed to include 91 Turkish children with T1D and 99 healthy controls. CTLA-4 (+99A/G) gene polymorphism typing was done by PCR amplification followed by restriction fragment length polymorphism method.

Variability in the age at diagnosis of diabetes in two unrelated patients with a homozygous glucokinase gene mutation.

Homozygous mutations in the glucokinase gene (GCK) result in a complete deficiency of the GCK enzyme, which leads to permanent neonatal diabetes mellitus. Whilst there has been one report of a patient (with a homozygous p.T168A) who was diagnosed with diabetes at the age of 2 months, all other cases were diagnosed with diabetes within the first 2 weeks of life.

Novel and de novo PHEX mutations in patients with hypophosphatemic rickets.

X-linked hypophosphatemic rickets (XLH) is the most common inherited rickets. XLH is caused by inactivating mutations in the PHEX gene and is transmitted as an X-linked dominant disorder. We investigated PHEX mutation in 10 patients from 6 unrelated Turkish families by PCR-sequence analysis.

Wolcott-Rallison syndrome due to a novel mutation (R491X) in EIF2AK3 gene.

Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by early-onset diabetes, spondyloepiphyseal dysplasia, tendency to skeletal fractures secondary to osteopenia, and growth retardation. Mutations in the eukaryotic translation initiation factor 2α kinase (EIF2AK3) gene are responsible for this disorder. Here, we describe a boy with neonatal diabetes, diagnosed at 2 months of age, who developed severe growth retardation and a skeletal fracture during the follow-up period.

Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A.

Context: Vitamin D-dependent rickets type 1A (VDDR-IA, OMIM 264700) is a rare autosomal recessive disorder and is caused by mutations in the CYP27B1 gene.

Objectives: We aim to investigate CYP27B1 mutation in seven patients from four separate families and characterize the genotype-phenotype correlation.

Methods: The entire coding region of the CYP27B1 gene was sequenced, and genotype-phenotype correlation among patients was assessed.

Renal cell carcinoma presented with hypocalcemia in an adolescent.

Renal cell carcinoma is very rare in childhood. It is a different entity from its adult counterpart. We report a case of renal cell carcinoma presented with hypocalcemia in a 16-year-old girl that is, to the best of our knowledge, the first such published incident.

Effects of vitamin D receptor gene polymorphisms on susceptibility to disease and bone mineral density in Turkish patients with type 1 diabetes mellitus.

Background: Vitamin D receptor (VDR) gene is regarded as one of the candidate genes for type 1 diabetes mellitus (T1D) susceptibility and of some genetic factors involved in the development of osteoporosis in this group.

Study Design: We characterized the VDR gene polymorphism (BsmI, ApaI, TaqI, FokI and Cdx-2 binding site) in a group of Turkish patients with T1D (n=90) and correlated respective VDR genotypes with the bone mass and some parameters of bone turnover.

Results: There were no differences in the genotype frequencies of the BsmI, ApaI, TaqI and Cdx-2 polymorphisms in patients and control subjects.

Spontaneous endogenous hypermelatoninemia: a new disease?

Melatonin, a major photoperiod-dependent hormone, regulates circadian rhythms and biological rhythms and acts as a prominent sleep promoter. Symptoms related to hypermelatoninemia have been reported in individuals supplemented with melatonin. However, spontaneous endogenous hypermelatoninemia has not been reported previously.

Analysis of TPO gene in Turkish children with iodide organification defect: identification of a novel mutation.

The objective was to determine molecular genetic analysis of the TPO gene in Turkish children with iodide organification defect (IOD). Patients with a diagnosis of primary hypothyroidism were evaluated. Subjects having a definite diagnosis of autoimmune thyroiditis, thyroid gland dysplasia and, or iodine deficiency were excluded.

Evaluation of congenital heart diseases and thyroid abnormalities in children with Down syndrome.

Objective: Congenital heart disease (CHD) associated with thyroid disease has been reported in Down syndrome (DS). The purpose of this work was to assess abnormalities of the thyroid in relation to the frequency and type of CHD on admission among children with DS.

Methods: This retrospective study included 187 children with DS between August 1993- December 2005.

Final diagnosis in children with subclinical hypothyroidism and mutation analysis of the thyroid peroxidase gene (TPO).

Aim: To determine the final diagnosis of patients with subclinical hypothyroidism (SCH), and to perform mutation screening of the thyroid peroxidase gene (TPO).

Methods: Infants with SCH without an identified etiology were included in the study. Patients with thyroid dysgenesis were excluded.

Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.

Objective: To evaluate the clinical response to sulphonylurea treatment in a child with a homozygous T168A GCK (glucokinase) mutation, causing permanent neonatal diabetes mellitus (PNDM).

Study Design: Oral glibenclamide was given for 3 months. Pancreatic beta cell function was assessed by a glucagon stimulation test.