Clinical Characteristics and Genotype-Phenotype Correlation in the Patients with the Diagnosis of Resistance to Thyroid Hormone Beta.

Objective: Resistance to thyroid hormone beta (RTHβ) is a rare disorder characterized by a fairly heterogeneous clinical presentation due to varying degrees of tissue response to thyroid hormone. The study aimed to evaluate the clinical, laboratory features and genotype-phenotype relationship of Turkish patients with RTHβ.

Methods: Patients who underwent a THRB gene analysis between September 2019 and September 2023 were retrospectively reviewed.

Central precocious puberty in a toddler with hypothalamic hamartoma.

Objectives: Hypothalamic hamartoma (HH) is a rare condition that causes epilepsy and central precocious puberty (CPP) at an early age. In this report, we describe a child with CPP secondary to HH and discuss the current literature.

Case Presentation: A 26-month-old girl was brought to our hospital for evaluation of breast enlargement.

Evaluation of Arrhythmia Risk in Children with Type 1 Diabetes Mellitus.

Background And Aim: Children with type 1 diabetes mellitus are susceptible to arrhythmias and sudden cardiac death. In this study, we aimed to explore the arrhythmia risk among children with type 1 diabetes mellitus by assessing electrocardiographic parameters.

Methods: A total of 165 children diagnosed with type 1 diabetes mellitus, aged 10-18 years, and 154 healthy children matched for age and gender without any chronic diseases, were included in the study.

A case with short stature and proteinuria: atypical presentation of a family with m.3243A>G mutation.

Background: The mitochondrial DNA (mtDNA) m.3243A>G mutation is one of the most common pathogenic mtDNA variants. The phenotypes associated with this mutation range from asymptomatic induviduals to well-defined clinical syndromes, or non-syndromic mitochondrial disorders.

A Rare Cause Of Proportional Short Stature and Puberty Precocity: Floating-Harbor Syndrome.

Floating-Harbor syndrome is a sporadic autosomal dominantly inherited malformation syndrome characterized by typical craniofacial findings, proportional short stature, significantly delayed bone age, delayed expressive language, delayed speech, and normal head circumference. It is caused by heterozygous mutations in the SNF2-associated CBP activator protein gene (SRCAP) located on chromosome 16. Here, we report 9 years and 4 months old male patient who presented to the pediatric genetics outpatient clinic with retardation in early developmental stages, dysmorphic facial features, and short stature.

Do body esteem and quality of life scores change with puberty signs or precocious puberty treatment?

Objectives: Body esteem (BE) and quality of life (QOL) of girls aged 9-11 years may change depending on their puberty. We aimed to examine The Pediatric Quality of Life Inventory 4.0 (PedsQL 4.

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.

Benign transient hyperphosphatasemia in the pediatric population: a single center cohort study.

Objectives: Alkaline phosphatase (ALP) can be increased in a benign condition known as benign-transient hyperphosphatasemia (BTH). We aimed to evaluate the demographic, and clinical characteristics of infants and children with BTH.

Methods: In our retrospective study, infants and children diagnosed with BTH between September 2019 and September 2023 were included.

Comparison of the optical coherence tomography-angiography (OCT-A) vascular measurements between molecularly confirmed MODY and age-matched healthy controls.

Aims: Previous structural, vascular density, and perfusion studies have mostly comprised type 1 and type 2 diabetes, even in the absence of retinopathy. The current study aimed to compare macular vessel density (VD) measurements between maturity-onset diabetes of the young (MODY) patients and controls.

Methods: The macular VD of superficial, deep retina, and choriocapillaris (CC), and central macular thickness (CMT), foveal avascular zone (FAZ), FAZ perimetry, VD of the total retina at 300 µm around the FAZ (FD), and acirculatory index (AI) measurements were taken and analyzed via OCT-A (RTVue XR 100-2 Avanti, AngioVue) and were compared between molecularly confirmed MODY (glucokinase (GCK) variants) patients and healthy controls.

Comparison of internet usage and internet addiction scores in healthy children and children with type 1 diabetes mellitus.

Objectives: The Internet, an integral part of modern life, can lead to internet addiction, which negatively affects academic performance, family relationships, and emotional development. This study aimed to evaluate the Internet addiction scores (IAS) during COVID-19 in children with type 1 diabetes mellitus (T1DM) compared with healthy controls.

Methods: Children with T1DM and healthy controls aged 8-18, were evaluated with the Parent-Child Internet Addiction Test (PCIAT20).

The First Case of 4H Syndrome with Type 1 Diabetes Mellitus.

4H syndrome is a rare progressive hypomyelinating leukodystrophy. Hypomyelination, hypodontia, and hypogonadotropic hypogonadism are the 3 classic features of 4H syndrome. Biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K gene cause 4H leukodystrophy.

The Relationship Between Internet Usage Style and Internet Addiction and Food Addiction in Obese Children Compared to Healthy Children.

Objective: The frequency of using the internet and social media increases in childhood, which leads to a decrease in physical activity. We aimed to investigate the effects of such technological applications on the internet and food addiction in obese and nonobese children.

Materials And Methods: A total of 180 obese and 180 nonobese children were included in this study.

Bisphosphonate treatment at spondylo-ocular syndrome due to a novel compound heterozygote variant in XYLT2 and review of the literature.

Spondylo-ocular syndrome is a rare autosomal recessive disorder characterized by generalized osteoporosis, hearing loss, visual impairment due to cataract, and platyspondyly. Previous studies have revealed that the syndrome is caused by pathogenic variants in the XYLT2 gene. A patient with spondylo-ocular syndrome and two heterozygous pathogenic variant in the XYLT2 gene in compound state are described here.

Acromesomelic dysplasia-Maroteaux type, nine patients with two novel variants.

Objectives: Acromesomelic dysplasia, type Maroteaux, is an autosomal recessive skeletal dysplasia caused by biallelic loss of function variations of , which encodes a cartilage regulator C-type natriuretic peptide receptor B. variations impair skeletal growth. It is a rare type of dwarfism characterized by shortening of the middle and distal segments of the limbs with spondylar dysplasia.

Clinical, biochemical, and echocardiographic evaluation of neonates with vitamin D deficiency due to maternal vitamin D deficiency.

Objective: There are a few number of case reports and small-scale case series reporting dilated cardiomyopathy due to vitamin D-deficient rickets. The present study evaluates the clinical, biochemical, and echocardiographic features of neonates with vitamin D deficiency.

Patients And Methods: In this prospective single-arm observational study, echocardiographic evaluation was performed on all patients before vitamin D3 and calcium replacement.

Identification of Three Novel and One Known Mutation in the Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis.

Objective: Bi-allelic mutations in the cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized by nonautoimmune diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural deafness, urinary tract abnormalities, and neuropsychiatric disorders. Patients presenting with an incomplete phenotype of WS1 were evaluated using homozygosity mapping and subsequent whole-exome sequencing.

Methods: Four unrelated consanguineous Turkish families, including seven affected children, and their unaffected parents and siblings were evaluated.

Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations.

Context: Biallelic mutations in the PTF1A enhancer are the commonest cause of isolated pancreatic agenesis. These patients do not have severe neurological features associated with loss-of-function PTF1A mutations. Their clinical phenotype and disease progression have not been well characterized.

Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology.

Glucose homeostasis requires appropriate and synchronous coordination of metabolic events and hormonal activities to keep plasma glucose concentrations in a narrow range of 3.5-5.5 mmol/L.

Severe hyponatremia and repeated intestinal resections for intestinal dysmotility mimicking congenital aganglionic megacolon due to delay in the diagnosis of congenital hypothyroidism.

Congenital hypothyroidism (CH) may present with nonspecific signs and symptoms, though, majority of infants can be asymptomatic. Therefore, understimation and delay in diagnosis may result in severe complications. A 5-month-old female admitted to our clinic with the history of repeated surgical operations due to the diagnosis of congenital aganglionic megacolon.

Severe Hypercalcemia in a Child With Acute Lymphoblastic Leukemia Relapse: Successful Management With Combination of Calcitonin and Bisphosphonate.

Hypercalcemia is a rare complication of hematological malignancy in children. An 8-year-old girl with CALLA (+) Pre-B-cell ALL developed hypercalcemia during bone marrow relapse. She had nausea, vomiting, leg pain, polyuria, polydipsia, and muscle weakness.

Platelet aggregation, secretion, and coagulation changes in children with asthma.

The chronic inflammation in asthma evolves by cells including eosinophils, mast cells and lymphocytes. Despite their principal function in hemostasis, platelets contribute to pathogenesis of asthma that activation of platelets occurs following antigen provocation and during asthma attack. Our aim was to evaluate the platelet functions and other hemostatic features of children with asthma, both during symptom-free period and asthma attack.