Clinical and genetic characteristics of patients with monocarboxylate transporter-8 deficiency: a multicentre retrospective study.

Unlabelled: Allan-Herndon-Dudley syndrome is a neurodevelopmental disorder characterized by motor and intellectual disabilities. Despite its rarity, there has been a rise in interest due to ongoing research and emerging therapy suggestions. In this multicenter, retrospective, cross-sectional study, the genetic characteristics and clinical data of twenty-one cases of genetically confirmed MCT8 deficiency were evaluated.

Evaluation of Growth Characteristics and Final Heights of Cases Diagnosed with Noonan Syndrome on GH Treatment.

Introduction: Proportional short stature is one of the most important features of Noonan Syndrome, and adult height often remains below the 3rd percentile. Although the pathophysiology of short stature in NS patients is not fully understood, it has been shown that GH treatment is beneficial in NS, and it significantly improves the height in respect to the results of short and long-term GH treatment.

Methods: In this study, the efficacy of GH therapy was evaluated in children and adolescents with Noonan syndrome who attained final height.

17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort.

Purpose: 17α Hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, typically diagnosed in late adolescence with symptoms of pubertal delay and hypertension. This study aimed to determine the clinical and laboratory characteristics of 17OHD cases and gather data on disease management.

Methods: Data from 97 nationwide cases were analyzed using the CEDD-NET web system.

Eating Disorders and Sleep Disturbance as Determinants of Metabolic Control in Adolescents with Type 1 Diabetes.

This cross-sectional study examined the effect of sleep disturbance and eating disorders on metabolic control in adolescents with Type 1 Diabetes. The study was conducted with adolescents with T1DM treated at a university hospital in Turkey between October 2023 and January 2024. The study sample consisted of 120 adolescents with T1DM between the ages of 10-18.

Congenital Adrenal Hyperplasia with Combined 21-hydroxylase deficiency and 17α-hydroxylase/17,20-lyase deficiency: An undervirilized male.

21-hydroxylase deficiency stands as the most prevalent form of congenital adrenal hyperplasia, primarily resulting from mutations in the CYP21A2 gene. On the other hand, mutations within the CYP17A1 gene lead to 17α-hydroxylase/17,20-lyase enzyme deficiencies. The scarcity of 17-OH deficiency is noteworthy, accounting for less than 1% of all congenital adrenal hyperplasia cases.

Clinical and Laboratory Characteristics of MODY Cases, Genetic Mutation Spectrum and Phenotype-genotype Relationship.

Objective: Maturity onset diabetes of the young (MODY) occurs due to mutations in genes involved in pancreatic beta cell function and insulin secretion, has heterogeneous clinical and laboratory features, and account for 1-5% of all diabetes cases. The prevalence and distribution of MODY subtypes vary between countries. The aim of this study was to evaluate the clinical and laboratory characteristics, mutation distribution, and phenotype-genotype relationship in a large case series of pediatric Turkish patients genetically diagnosed with MODY.

Adherence to Growth Hormone Treatment in Children During the COVID-19 Pandemic.

Objective: Treatment adherence is crucial for the success of growth hormone (GH) therapy. Reported non-adherence rates in GH treatment have varied widely. Several factors may have an impact on adherence.

A Case Series of Three Patients with Cleidocranial Dysplasia: Clinical Presentation and Diagnostic Considerations.

Cleidocranial dysplasia (CCD) is a rare genetic condition that affects the bones and teeth. In our study, we presented three cases of CCD, including one with a new mutation and two with a family history. Case 1 had a unique heterozygous frameshift mutation (NM_001015051,c.

A Case of Short Stature Caused by a Mutation in the Gene.

Introduction: Aggrecanopathies are rare disorders associated with idiopathic short stature. They are caused by pathogenic changes in the gene located on chromosome 15q26. In this study, we present a case of short stature caused by mutations in the gene.

Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor.

Unlabelled: Testicular adrenal rest tumor (TART) is one of the important complications that can cause infertility in male patients with congenital adrenal hyperplasia (CAH) and should therefore be diagnosed and treated at an early age. The factors that result in TART in CAH have not been completely understood. The aim of this study is to evaluate the genotype-phenotype correlation in CAH patients with TART.

Triponderal mass index is as strong as body mass index in the determination of obesity and adiposity.

Objective: In determining obesity and body adiposity, triponderal mass index (TMI) is as strong an anthropometric measurement as body mass index (BMI). The aim of this study was to develop TMI reference values for Turkish children and adolescents and compare TMI with BMI according to body adiposity and obesity indices.

Methods: Data from the DAMTCA-II (Determination of Anthropometric Measurements of Turkish Children and Adolescents II) study were used in this cross-sectional study.

Effects of whole-grain barley and oat β-glucans on postprandial glycemia and appetite: a randomized controlled crossover trial.

This study aimed to determine the postprandial effects of barley bread (BB) and oat bread (OB), grain sources of β-glucans, on glycaemia and appetite by comparison with white bread (WB) and whole-wheat bread (WWB). This randomized controlled crossover trial included 20 healthy individuals (10 males and 10 females) who consumed WB, WWB, BB, and OB with a standard breakfast followed by an lunch. Postprandial glucose and appetite responses were quantified as the incremental area under the curve (iAUC).

Identifying the effects of excess weight, metabolic syndrome and insulin resistance on liver stiffness using ultrasound elastography in children.

Background: Metabolic syndrome (MetS) and insulin resistance (IR) are known predictors of nonalcoholic fatty liver disease (NAFLD) which is one of the significant comorbidities of obesity. Obese children with MetS and IR are reported to be more likely to have advanced liver fibrosis compared to those without MetS or IR. The aim of this study is to determine the effects of excess weight, MetS and IR on liver fibrosis assessing liver stiffness in children using ultrasound elastography and compare gray scale ultrasonographic findings of hepatic steatosis (HS) with liver fibrosis.

Diagnosing Alström syndrome in a patient followed up with syndromic obesity for years.

Alström syndrome (AS) is a rare autosomal recessive monogenic disorder caused by mutations of the () gene, located on chromosome 2p13. It is a progressive multisystemic disease characterized mostly by obesity, sensorineural hearing loss, visual impairments, cardiomyopathy, insulin resistance and/or type 2 diabetes mellitus (T2DM), metabolic dysfunctions, non-alcoholic fatty liver disease, and chronic progressive kidney disease. Generally, the first clinical symptoms of the disease appear in the first years of life with a major variation of onset age.

A very rare cause of arthrogryposis multiplex congenita: a novel mutation in .

Objectives: Arthrogryposis multiplex congenita-5 (AMC5) is an autosomal recessive disease caused by homozygous or compound heterozygous mutations in the gene on chromosome 9q34. Congenital multiple joint contractures with microcephaly, typical facial dysmorphism, developmental delay, strabismus, tremor, and increased tone are the main characteristics defined in seven patients thus far. One third of the individuals with monoallelic mutations of the gene develop isolated early-onset dystonia (DYT1 dystonia), which is inherited in an autosomal dominant fashion, with variable expressivity and incomplete penetrance.

The effect of the COVID-19 pandemic on metabolic control in children with type 1 diabetes: a single-center experience.

Objectives: Coronavirus disease 2019 has caused a major epidemic worldwide, and lockdowns became necessary in all countries to prevent its spread. This study aimed to evaluate the effects of staying-at-home practices on the metabolic control of children and adolescents with type 1 diabetes during the pandemic period.

Materials And Methods: Eighty-nine patients younger than 18 years old who were diagnosed with type 1 diabetes at least one year before the declaration of the pandemic were included in the study.

Evaluation of micronutrient levels in children and adolescents with obesity and their correlation with the components of metabolic syndrome.

Background: Obesity is a significant public health problem worldwide. Vitamin deficiencies, developing due to monotype nutrition, are more likely to be observed in patients than healthy children. The present study evaluates vitamin and micronutrient levels in children and adolescents with obesity and metabolic syndrome compared to healthy controls.

A comparison of emotional eating, social anxiety and parental attitude among adolescents with obesity and healthy: A case-control study.

This case-controlled study was conducted to determine and compare the emotional eating, social anxiety and parental attitude in those adolescents with obesity and healthy counterparts. The sample of the study consist of obese adolescents in 14-18 aged (n = 150) followed up in the pediatric endocrinology outpatient clinic of a tertiary hospital and healthy adolescents in 14-18 aged (n = 150) who were studying in high schools. The data were collected using a questionnaire form, Emotional Eating Scale Adapted to Use in Children and Adolescents (EES-C), Social Anxiety Scale for Children-Revised (SASC-R) and Parenting Style Scale (PSS).

Endocrine Disruptors and Polycystic Ovary Syndrome: Phthalates.

Objective: We aimed to investigate a possible role of the endocrine disruptors phthalates, di-2-ethylhexyl phthalate (DEHP) and mono (2-ethylhexyl) phthalate (MEHP), in polycystic ovary syndrome (PCOS) aetiopathogenesis. We also wished to evaluate the relationship between phthalates and metabolic disturbances in adolescents with PCOS.

Methods: A total of 124 adolescents were included.

Maturity-onset diabetes of the young: Different diabetes in an infant with cystic fibrosis.

Cystic fibrosis (CF) is one of the most common autosomal recessive and multisystemic diseases. CF affects many systems. One of these systems is the endocrine and exocrine functions of the pancreas, causing cystic fibrosis-related diabetes, which is extremely complex and has unique pathogenesis.