Exploring the Heterogeneity of Pediatric Neuroendocrine Tumors: Single-Center Experience.

Introduction: Neuroendocrine tumors (NETs) are rare, slow-growing tumors with distinct clinical manifestations that can be challenging to diagnose and treat, particularly in children. This retrospective study aimed to improve the diagnosis and treatment of NETs by evaluating their clinical course, hormonal activity, and long-term effects in children.

Methods: A retrospective study was conducted on 26 pediatric patients diagnosed with NETs between 2000 and 2024.

Comprehensive clinical and molecular characterization with long-term outcomes in 40 patients with congenital hyperinsulinism.

Purpose: Congenital hyperinsulinism (CHI) represents the most frequent cause of recurrent hypoglycemia in neonates and infants, stemming from defects in the regulatory pathways of insulin secretion from pancreatic beta cells. This study aims to assess the clinical and genetic characteristics of a CHI cohort and to discuss the complexities involved in managing this heterogeneous disorder.

Methods: Forty patients (23 girls) with CHI were included in the study.

Investigation of dysmenorrhea in adolescent girls with familial Mediterranean fever: a comparative study with healthy controls.

Unlabelled: Perimenstrual attacks have been reported in up to 15% of patients with FMF, suggesting that menstruation may be a trigger for FMF attacks. The aim of this study was to investigate menstrual period patterns and dysmenorrhea in adolescents with FMF in comparison to their healthy peers. This cross-sectional case-control study included 73 FMF patients and 70 age- and body mass index-matched controls.

Cabergoline Induced Pathological Gambling in an Adolescent with Prolactinoma.

Prolactinomas are the most common hormone-secreting pituitary adenomas in adolescents. Dopamine agonists (DA) are used as first-line medical treatment. DAs are associated with an array of physical side effects; however, impulse control disorders (ICDs), such as pathological gambling (PG), have also been reported in adults.

Thyrotoxic Hypokalemic Periodic Paralysis Induced by High-Dose Insulin in an Adolescent Male with Type 1 Diabetes Mellitus.

Introduction: Thyrotoxic hypokalemic periodic paralysis (THPP) is a rare but severe complication of hyperthyroidism characterized by acute muscle weakness. This study reports the first case of THPP in an adolescent with type 1 diabetes mellitus (T1DM) and Graves' disease, triggered by high-dose insulin, high carbohydrate intake, and strenuous exercise. It highlights the clinical presentation, management, and implications of THPP in this context.

Central Adrenal Insufficiency: Etiology and Diagnostic Approach.

Central adrenal insufficiency (CAI) occurs due to a pituitary gland disorder (secondary AI) or hypothalamic dysfunction (tertiary AI). It is a potentially life-threatening condition that has many congenital and acquired causes. Adrenocorticotropic hormone deficiency may be isolated or more commonly it can be accompanied by other pituitary hormone deficiencies or midline defects.

Expanding the Clinical and Mutational Spectrum of Biallelic POC1A Variants: Characterization of Four Patients and a Comprehensive Review of POC1A-Related Phenotypes.

SOFT syndrome (SOFTS) is an autosomal recessive disorder caused by biallelic POC1A variants, characterized by short stature, distinctive facial features, onychodysplasia, and hypotrichosis. To date, 21 pathogenic POC1A variants have been reported in 26 families. This study aims to broaden the phenotypic and genotypic spectrum of SOFTS with emphasis on the long-term effects of growth hormone (GH) therapy.

Clinical and Genetic Mechanisms in Patients with MC2R Deficiency Presenting with Early Puberty.

Introduction: Melanocortin receptor 2 (MC2R) in the adrenal cortex controls the hypothalamic-pituitary-adrenal axis. The melanocortin system, influenced by leptin, regulates GnRH neurons, crucial for puberty onset and fertility. This study evaluates early puberty in primary adrenal insufficiency (PAI) patients due to MC2R gene alterations.

Effect of obesity and NAFLD on leukocyte telomere length and hTERT gene MNS16A VNTR variant.

It is known that telomere length (TL) (evaluated with T/S ratio) is shortened in the presence of obesity. In this study, we aimed to investigate how obesity in adolescents and non-alcoholic liver disease (NAFLD) within the obese group affect TL and the clinical significance of the human telomerase reverse transcriptase (hTERT) gene MNS16A VNTR variant in terms of NAFLD. Adolescents with exogenous obesity and healthy controls (aged 10-19 years) who applied to our adolescent outpatient clinic between May-October 2023 were included in this study.

Assessing Psychological Disorders in Turkish Adolescents with Transfusion-Dependent Thalassemia.

We investigated depression and anxiety levels and related psychological disorders in adolescents with transfusion-dependent thalassemia (TDT) in this study. The study was conducted in two pediatric hematology outpatient clinics and included adolescents with TDT (14.8 ± 2.

Evaluation of the ability of insulin resistance and lipid-related indices to predict the presence of NAFLD in obese adolescents.

Background: Nonalcoholic fatty liver disease (NAFLD) has become an important health issue in adolescents. Although several parameters and indices have been investigated for the evaluation of NAFLD in adults, these indices are limited in adolescents. In this study, body mass index, waist circumference, triponderal mass index, HbA1c, homeostatic model assessment insulin resistance (HOMA-IR), triglyceride/high-density lipoprotein (Tg/HDL), the lipid accumulation product (LAP) index, the triglyceride-glucose (TyG) index and the aminotransferase (AT) index were examined together, and their diagnostic values in the clinical treatment of NAFLD were compared.

Association of problems, coping styles, and preferred online activity with depression, anxiety, and other psychological disorders in Turkish adolescents diagnosed with chronic kidney disease.

Background: To assess depression, anxiety, and other psychological disorders in adolescents with chronic kidney disease (CKD) and determine the significant factors and the effect of digital media use on its scores among these patient groups.

Methods: The study was conducted as a cross-sectional study and included 84 adolescents with CKD and 68 healthy controls. The participants completed the Revised Child Anxiety and Depression Scale (RCADS).

The Relationship Between Sleep Quality, Sleep Duration, Social Jet Lag and Obesity in Adolescents.

Objective: The frequency of obesity and poor sleep quality among adolescents is increasing and causes many chronic problems. The objective was to investigate the correlation between body mass index (BMI), sleep quality, sleep duration and social jet lag (SJL) among adolescents.

Methods: This study was cross-sectional.

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.

SPIOMET4HEALTH-efficacy, tolerability and safety of lifestyle intervention plus a fixed dose combination of spironolactone, pioglitazone and metformin (SPIOMET) for adolescent girls and young women with polycystic ovary syndrome: study protocol for a multicentre, randomised, double-blind, placebo-controlled, four-arm, parallel-group, phase II clinical trial.

Background: Polycystic ovary syndrome (PCOS) is the most prevalent, chronic endocrine-metabolic disorder of adolescents and young women (AYAs), affecting 5-10% of AYAs worldwide. There is no approved pharmacological therapy for PCOS. Standard off-label treatment with oral contraceptives (OCs) reverts neither the underlying pathophysiology nor the associated co-morbidities.

Body proportions in patients with Turner syndrome on growth hormone treatment.

Background: : In this cross-sectional study, we aimed to evaluate auxological measurements and detailed body proportions of recombinant human growth hormone (GH)-treated patients with Turner syndrome (TS) and compare them with a group of healthy females.

Methods: We evaluated 42 patients with TS who received GH treatment and 20 healthy controls. Anthropometric measurements were taken and target height, body mass index (BMI), arm span-height difference, extremity-to-trunk ratio, and Manouvrier's skelic index were calculated.

A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy.

Introduction: Pathogenic biallelic RNPC3 variants cause congenital hypopituitarism (CH) with congenital cataracts, neuropathy, developmental delay/intellectual disability, primary ovarian insufficiency, and pituitary hypoplasia. Here, we aimed to evaluate the clinical and molecular characteristics of 2 patients with CH and neuropathy.

Materials And Methods: Proband was evaluated by clinical, laboratory, and radiological exams, followed by exome sequencing (ES).

Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency.

Objective: Recent reports have indicated the role of the prokineticin receptor 2 gene () in the etiology of pituitary hormone deficiencies, suggesting a potential role for the PROK2 pathway in pituitary development, in addition to its role in gonadotropin releasing hormone-expressing neuron development. Here, we present the clinical and molecular findings of four patients with mutations.

Methods: Next-generation targeted sequencing was used to screen 25 genes in 59 unrelated patients with multiple pituitary hormone deficiency (MPHD), isolated growth hormone (GH) deficiency, or idiopathic short stature.

Phenotype-Genotype Correlations of GH1 Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency.

Introduction: Genetic forms of growth hormone deficiency (GHD) may occur as isolated GHD (IGHD) or as a component of multiple pituitary hormone deficiency (MPHD). This study aimed to present the clinical and molecular characteristics of patients with IGHD/MPHD due to the GH1 gene variants.

Methods: A gene panel accommodating 25 genes associated with MPHD and short stature was used to search for small sequence variants.

Long-Term Endocrinologic Follow-Up of Children with Brain Tumors and Comparison of Growth Hormone Therapy Outcomes: A SingleCenter Experience.

Objective: Brain tumors in childhood carry a high risk for endocrine disorders due to the direct effects of the tumor and/or surgery and radiotherapy. Somatotropes are vulnerable to pressure and radiotherapy; therefore, growth hormone deficiency is one of the most frequent abnormalities. This study aimed to evaluate endocrine disorders and recombinant growth hormone treatment outcomes in brain tumor survivors.