A homozygous TARS2 variant is a novel cause of syndromic neonatal diabetes.

Aims: Neonatal diabetes is a monogenic condition which can be the presenting feature of complex syndromes. The aim of this study was to identify novel genetic causes of neonatal diabetes with neurological features including developmental delay and epilepsy.

Methods: We performed genome sequencing in 27 individuals with neonatal diabetes plus epilepsy and/or developmental delay of unknown genetic cause.

Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.

Aims/hypothesis: Current clinical guidelines for childhood-onset monogenic diabetes outside infancy are mainly focused on identifying and testing for dominantly inherited, predominantly MODY genes. There are no systematic studies of the recessively inherited causes of monogenic diabetes that are likely to be more common in populations with high rates of consanguinity. We aimed to determine the contribution of recessive causes of monogenic diabetes in paediatric diabetes clinics and to identify clinical criteria by which to select individuals for recessive monogenic diabetes testing.

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.

Distribution of α-actinin-3 rs1815739 and angiotensin-1 converting enzyme InDel polymorphisms in Turkish bodybuilders.

The determination of the genetic profiles of successful athletes and the effects of these genetic parameters on athletic performance is gaining increasing interest. The majority of studies assessing the genetics of athletes usually analyse the most well-known genetic variations in athletes associated with the different specialties. The aim of the present study was to analyse the InDel and rs1815739 polymorphisms in Turkish bodybuilders.

The Use of Social Network in Daily Pediatric Practice and Education: Turkish Pediatric Atelier.

Using social media applications in pediatric education is not outdated, and its effectiveness has not been tested yet. For this reason, we shared the first results of the Pediatric Atelier experience that we realized through telegram application. We make an online survey to investigate the needs, requirements, pleasure, and suggestions of members through a web-based questionnaire.

Revisiting Classical 3β-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Cases.

Context: The clinical effects of classical 3β-hydroxysteroid dehydrogenase 2 (3βHSD2) deficiency are insufficiently defined due to a limited number of published cases.

Objective: To evaluate an integrated steroid metabolome and the short- and long-term clinical features of 3βHSD2 deficiency.

Design: Multicenter, cross-sectional study.

Characteristics of Turkish children with Type 2 diabetes at onset: a multicentre, cross-sectional study.

Aims: To describe the baseline clinical and laboratory findings and treatment modalities of 367 children and adolescents diagnosed with Type 2 diabetes in various paediatric endocrinology centres in Turkey.

Methods: A standard questionnaire regarding clinical and laboratory characteristics at onset was uploaded to an online national database system. Data for 367 children (aged 6-18 years) newly diagnosed with Type 2 diabetes at 37 different paediatric endocrinology centres were analysed.

Glucocorticoid deficiency causes transcriptional and post-transcriptional reprogramming of glutamine metabolism.

Background: Deficient glucocorticoid biosynthesis leading to adrenal insufficiency is life-threatening and is associated with significant co-morbidities. The affected pathways underlying the pathophysiology of co-morbidities due to glucocorticoid deficiency remain poorly understood and require further investigation.

Methods: To explore the pathophysiological processes related to glucocorticoid deficiency, we have performed global transcriptional, post-transcriptional and metabolic profiling of a cortisol-deficient zebrafish mutant with a disrupted ferredoxin () system.

-174 G/C polymorphism of interleukin 6 gene is not significantly different in Turkish professional short and long distance runners.

Interleukin-6 (IL-6) is a kind of multifunctional cytokine and involved in mediating muscle repair metabolism, and therefore athletic capacity.  Muscular and circulating IL-6 levels increase in response to physical exercise. Responsible gene coding for IL-6 has a functional polymorphism in its promoter region, -174 G/C (rs1800795).

Incidence of Type 1 Diabetes in Children Aged Below 18 Years during 2013-2015 in Northwest Turkey.

Objective: To assess the incidence of type 1 diabetes mellitus (T1DM) in children under 18 years of age in the northwest region of Turkey during 2013-2015.

Methods: All newly diagnosed T1DM cases were recorded prospectively during 2013-2015. Total, as well as gender and age group specific (0-4, 5-9, 10-14 and 15-17 age) mean incidences per 100,000 per year were calculated.

Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation.

Background: As KATP channel mutations are the most common cause of neonatal diabetes mellitus (NDM) and patients with these mutations can be treated with oral sulfonylureas, empiric therapy is a common practice for NDM patients.

Case Presentation: A non-syndromic, small for gestational age baby born to first-degree consanguineous parents was diagnosed with NDM. Because of hypo- and hyperglycemic episodes and variability in insulin requirement, we initiated a trial of glibenclamide, with a presumptive diagnosis of NDM caused by a KATP channel mutation.

Significance of S100A8, S100A9 and calprotectin levels in bladder cancer.

Objectives: Members of the S100 protein family, S100A8, S100A9 and their heterodimer complex known as calprotectin are thought to be involved not only in inflammatory pathways but also in tumorigenesis and cancer progression. Therefore, they have been widely studied in various types of cancer; however, there is limited knowledge about their role in bladder cancer. In this study, our aim was to determine the levels of S100A8 and S100A9 in the sera, and calprotectin levels in the sera and urines of bladder cancer patients and compare it to urinary BTA, a tumor marker that can be used in the diagnosis of bladder cancer.

Association Between Endocrine Diseases and Serous Otitis Media in Children.

Objective: Otitis media with effusion (OME) is a condition in which fluid is retained in the middle ear cavity. The association between endocrine disorders and OME has not yet been determined. This study aimed to investigate the presence of OME in children diagnosed with an endocrine disease and the relationship between these two conditions.

Diagnostic potential of YKL-40 in bladder cancer.

Objectives: YKL-40 is a glycoprotein, which is thought to play a role in inflammatory conditions and tissue remodeling. Although it has been investigated in numerous cancers, there is very limited knowledge about the role of YKL-40 in bladder cancer. In this study, our aim was to determine the levels of YKL-40 in the sera and urines of the patients with bladder cancer, and compare it to urinary bladder tumor antigen (BTA), a tumor marker that can be used in the diagnosis of bladder cancer.

Significance of serum c-erbB-2 oncoprotein, insulin-like growth factor-1 and vascular endothelial growth factor levels in ovarian cancer.

Objectives: Our aim was to determine the predictive values of serum levels of several growth factors in ovarian cancer, including soluble c-erbB-2 oncoprotein, insulin-like growth factor-1 (IGF-1) and vascular endothelial growth factor (VEGF).

Background: Previous studies have shown that growth factors play an important role in carcinogenesis.

Methods: Two groups were established.

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.

Expanding the Clinical Spectrum Associated With GLIS3 Mutations.

Context: GLIS3 (GLI-similar 3) is a member of the GLI-similar zinc finger protein family encoding for a nuclear protein with 5 C2H2-type zinc finger domains. The protein is expressed early in embryogenesis and plays a critical role as both a repressor and activator of transcription. Human GLIS3 mutations are extremely rare.

Is Metabolic Syndrome Associated with Obstructive Sleep Apnea in Obese Adolescents?

Objective: To investigate whether there is an association between metabolic syndrome and obstructive sleep apnea syndrome (OSAS) in obese adolescents.

Methods: In total, 240 pubertal children or prepubertal children older than 11 y recruited consecutively from the pediatric endocrinology unit, obesity clinic. Patients with tonsillar and adenoid hypertrophy (grade 3/4), systemic illnesses, or chronic drug usage were excluded.

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.

Idiopathic infantile hypercalcemia (IIH) is characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration, and nephrocalcinosis. Recently, mutations in the vitamin D catabolizing enzyme 25-hydroxyvitamin D3-24-hydroxylase (CYP24A1) were described that lead to increased sensitivity to vitamin D due to accumulation of the active metabolite 1,25-(OH)2D3. In a subgroup of patients who presented in early infancy with renal phosphate wasting and symptomatic hypercalcemia, mutations in CYP24A1 were excluded.

Current practice in diagnosis and treatment of growth hormone deficiency in childhood: a survey from Turkey.

Objective: Approaches to diagnosis and treatment of growth hormone deficiency (GHD) in children vary among countries and even among centers in the same country. This survey, aiming to facilitate the process of preparing the new consensus on GHD by the Turkish Pediatric Endocrinology and Diabetes Society, was designed to evaluate the current practices in diagnosis and treatment of GHD in different centers in Turkey.

Methods: A questionnaire covering relevant items for diagnosis and treatment of GHD was sent out to all pediatric endocrinology centers.

The frequency and the effects of 21-hydroxylase gene defects in congenital adrenal hyperplasia patients.

Congenital adrenal hyperplasia (CAH) is a group of genetic endocrine disorders, caused by enzyme deficiencies in the conversion of cholesterol to cortisol. More than 90% of the cases have 21-hydroxylase deficiency (21-OHD). The clinical phenotype of the disease is classified as classic, the severe form, and nonclassic, the mild form.

Non-alcoholic fatty liver disease in obese children and the relationship between metabolic syndrome criteria.

Aim: To investigate metabolic syndrome (MetS) and MetS criteria, and to establish whether metabolic syndrome criteria were associated with non-alcoholic fatty liver disease (NAFLD) in obese children.

Methods: A total of 451 pubertal obese children (8-18 years old) were enrolled in the study. Patients were divided into three groups according to the degree of steatosis.