Pediatricians' COVID-19 experiences and views on the willingness to receive COVID-19 vaccines: a cross-sectional survey in Turkey.

Developing an effective and safe vaccine against Covid-19 will facilitate return to normal. Due to hesitation toward the vaccine, it is crucial to explore the acceptability of the COVID-19 vaccine to the public and healthcare workers. In this cross-sectional survey, we invited 2251 pediatricians and 506 (22%) of them responded survey and 424 (84%) gave either nasopharyngeal swap or antibody assay for COVID-19 and 71 (14%) of them got diagnosis of COVID-19.

Neonatal Bartter syndrome with cholelithiasis and hydrocephalus: Rare association.

Neonatal Bartter syndrome (NBS) is a rare autosomal recessive renal tubular disorder. This disease is characterized by hypokalemia, hypochloremia, and metabolic alkalosis that is often associated with failure to thrive and recurrent episodes of dehydration. The combination of BS and cholelithiasis in an infant is very rare.

Density of the crystalline lens in obese and nonobese children.

Purpose: To compare crystalline lens density in obese and nonobese children.

Methods: A total of 40 obese (25 females) and 46 age-sex matched controls (26 females) were included in this prospective study. Children with ocular diseases (except for mild refractive errors), ocular trauma, or surgery and any systemic disorders, including diabetes, were excluded.

Maturity onset diabetes of youth (MODY) in Turkish children: sequence analysis of 11 causative genes by next generation sequencing.

Background: Maturity-onset diabetes of the youth (MODY), is a genetically and clinically heterogeneous group of diseasesand is often misdiagnosed as type 1 or type 2 diabetes. The aim of this study is to investigate both novel and proven mutations of 11 MODY genes in Turkish children by using targeted next generation sequencing.

Methods: A panel of 11 MODY genes were screened in 43 children with MODY diagnosed by clinical criterias.

Evaluating the Efficacy of Treatment with a GnRH Analogue in Patients with Central Precocious Puberty.

Objective. GnRH analogues (GnRHa) are used in the treatment of central precocious puberty (CPP). The purpose of this study was to evaluate the efficacy of treatment with a GnRHa (leuprolide acetate) in patients with CPP.

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.

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 known, but making a specific diagnosis can have important implications for management.

Investigation of autoimmune diseases accompanying Hashimoto's thyroiditis in children and adolescents and evaluation of cardiac signs.

Objective: In the present study, it was aimed to investigate the concomitance of additional cardiac problems, mainly mitral valve prolapse, in adolescents and pediatric patients with Hashimoto's thyroiditis, by screening autoimmune markers.

Materials And Methods: Fifty-seven euthyroid patients, who applied to the Pediatric Endocrinology clinic at our institution with marked symptoms of hypothyroidism at the time of diagnosis, and were diagnosed and treated for Hashimoto's thyroiditis, were included in the present study. All patients were evaluated by performing non-organ specific autoantibodies which could be tested at our institution, thyroid ultrasonography, two-dimensional echocardiography, and 24-h holter monitorization.

Effects of GnRH analogue treatment on anterior pituitary hormones in children with central precocious puberty.

Introduction And Purpose: This study aims to investigate the effect of Gonadotropin-releasing hormone analogues (GnRHa) treatment on anterior pituitary hormones in female children with central precocious puberty (CPP).

Subjects And Method: There were 62 female children who had been diagnosed with CPP and received GnRHa (Leuprolide acetate, 3.75 mg intramuscular/subcutaneous/28 days) included in the study.

Urinary C-Peptide/Creatinine Ratio Can Distinguish Maturity-Onset Diabetes of the Young from Type 1 Diabetes in Children and Adolescents: A Single-Center Experience.

Background: The urinary C-peptide/creatinine ratio (UCPCR) and fasting C-peptide level can assess beta-cell function in clinical practice. In the present study, the use of the UCPCR and fasting C-peptide levels was investigated in the differential diagnosis between maturity-onset diabetes of the young (MODY) and type 1 diabetes mellitus (T1DM).

Methods: Twenty-seven patients with genetically confirmed MODY by next-generation sequence analysis and 42 children with T1DM were included.

An uncommon cause of hypoglycemia: insulin autoimmune syndrome.

Background: Insulin autoimmune syndrome (IAS) is a condition characterized by hypoglycemia associated with the presence of autoantibodies to insulin in patients who have not been injected with insulin.

Case Report: A female patient (aged 16 years and 3 months) presented with the complaint of being overweight. Physical examination revealed a body weight of 78.

Evaluation of asymmetric dimethylarginine (ADMA) levels in children with growth hormone deficiency.

Objective: To investigate serum asymmetric dimethylarginine (ADMA) levels in children with isolated growth hormone deficiency (GHD) and to determine the effect of GH replacement therapy on these levels.

Methods: 31 patients diagnosed with isolated GHD and 29 age-and sex-matched healthy children were enrolled in the study. Height, weight and waist circumference were measured in all subjects.

A girl with steroid cell ovarian tumor misdiagnosed as non-classical congenital adrenal hyperplasia.

Ovarian steroid cell tumors are rarely encountered in prepubertal girls. The majority of these tumors produce hormones, testosterone being the leading one. These tumors may either coexist with or imitate congenital adrenal hyperplasia (CAH).

A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect.

The most common congenital endocrine disorder is congenital hypothyroidism (CH), which can lead to mental retardation if untreated. Majority of the patients have been found to have defects in thyroid development and migration disorders (dysgenesis), and the remaining ones have thyroid hormone synthesis defects (dyshormonogenesis). One of the most common mechanisms to cause dyshormonogenesis is a defect in the thyroid peroxidase (TPO) enzyme.

Long-term follow-up of Cushing's disease:a case report.

Cushing's disease is a condition in which hypercortisolism develops due to excessive hypophyseal adrenocorticotropic hormone production. It is rare in childhood. In this paper, we report the case of a 10-year-old male patient with hypophyseal microadenoma-related Cushing's disease who presented with obesity and was found to show poor height growth at follow-up.

Hyperinsulinemic hypoglycemia: experience in a series of 17 cases.

Objective: Hyperinsulinemic hypoglycemia (HIH) is a genetically heterogeneous disorder with both familial and sporadic variants. Patients with HIH may present during the neonatal period, infancy, or childhood and may show transient, prolonged, and persistent features. In this study, we aimed to discuss our experience with HIH patients, based on a series of 17 patients.

Prevalence of hyperthyrotropinemia in obese children before and after weight loss.

Background: Obesity is a worldwide epidemic. In recent years, increasing attention has been focused on thyroid function in obesity.

Objectives: To establish the prevalence of elevated thyroid-stimulating hormone (TSH) levels in obese children and adolescents, and identify the relationship between TSH levels and other metabolic and hormonal variables before and after weight reduction.

Diabetes mellitus with Laron syndrome: case report.

There are different opinions concerning changes in glucose metabolism in patients with Laron syndrome. In this paper we discuss the treatment results of our patient with Laron syndrome who developed diabetes during late adolescence. A 19-year-old boy with Laron syndrome was referred to our clinic for follow-up.

Report of the first case of precocious puberty in Rett syndrome.

Rett syndrome is an X-linked dominant disorder frequently caused by the mutations in the methyl-CpG-binding protein 2 gene (MECP2). Its prevalence in the population is 1/15,000-20,000. Patients with Rett syndrome present apparently normal psychomotor developments during the first 6-18 months of life.

Peroxisome proliferator activated receptor (PPAR)-gamma concentrations in childhood obesity.

Background: Peroxisome proliferator-activated receptors (PPARs) are nuclear proteins that regulate transcriptional responses to peroxisome proliferators. There has been limited research concerned with the childhood expression of these receptors. In this study, we aimed to evaluate PPAR-gamma (PPAR-γ) concentrations and their relationship to body mass index (BMI), ratio of waist and hip, blood pressure levels, insulin resistance and lipid profile in obese children and adolescents.

Mild and severe congenital primary hypothyroidism in two patients by thyrotropin receptor (TSHR) gene mutation.

Congenital hypothyroidism (CH) is the most commonly encountered endocrinological birth defect, with an incidence of approximately 1 in 3000-4000 live births. It could be sporadic or familial as well as goitrous or non-goitrous. Inactivating mutations of TSHR , which is one of the genes responsible for non-goitrogenic congenital hypothyroidism, are mostly inherited autosomal recessively and result in a wide clinical spectrum owing to the extent of receptor function loss.

A rare combination: congenital adrenal hyperplasia due to 21 hydroxylase deficiency and Turner syndrome.

A combination of Turner syndrome (TS) and classical congenital adrenal hyperplasia (CAH) is rare. A one-day-old newborn was referred to our hospital with ambiguous genitalia. The parents were third-degree relatives.