Evaluation of the etiology of subclinical hypothyroidism in children.

Objectives: Subclinical hypothyroidism (SH) is defined by normal free triiodothyronine (fT3) and free thyroxine (fT4) levels, elevated thyroid-stimulating hormone levels, and the absence of overt clinical signs of hypothyroidism. The natural course of SH is influenced by the underlying etiology. The purpose of this study was to evaluate the etiologic causes of SH.

Inequalities in Access to Diabetes Technologies in Children with Type 1 Diabetes: A Multicenter, Cross-sectional Study from Türkiye.

Objective: To determine inequalities in access to diabetes technologies and the effect of socioeconomic factors on families with children with type 1 diabetes.

Methods: In this multicenter cross-sectional study, parents of children with type 1 diabetes completed a questionnaire about household sociodemographic characteristics, latest HbA1c values, continuous glucose monitoring (CGM) and insulin pump use of children, the education and working status of parents. These characteristics were compared between technology use (only-CGM, only-pump, CGM+pump, no technology use).

Electrocardiographic Findings in Children Treated with Leuprolide Acetate for Precocious Puberty: Does it Cause Prolonged QT?

Objective: Central precocious puberty (CPP) is treated with long-acting gonadotropin releasing hormone (GnRH) analogues (GnRHa). Some adult patients undergoing GnRHa treatment experienced prolonged QT syndrome, which is associated with an increased risk of serious cardiac events, such as myocardial infarction, stroke, arrhythmias, and sudden cardiac death.

Methods: Seventy-four patients, aged between 5 and 11 years and diagnosed with CPP but with no other concomitant disease or medication use, underwent electrocardiogram (ECG) assessment.

Schwartz-Jampel Syndrome Type-1: Compound Heterozygosity of Two Novel Variants.

Schwartz-Jampel Syndrome (SJS) type-1 (OMIM; #255800), a rare cause of skeletal dysplasia, is characterized by myotonic myopathy, chondrodystrophy, short stature, facial and eye abnormalities. SJS Type-1 develops due to variations in the HSPG2 gene which produces the "perlecan" molecule, one of the main proteoglycans of the basement membrane. A 6-year-old girl presented with short stature, a mask face, shrunken lips, narrow palpebral opening due to blepharospasm, stiffness of facial muscles, micrognathia, overlapping teeth, a short neck, and a bell-shaped thorax due to myotonic myopathy.

Effects of applications manual pressure and shotblocker to reduce needle-related pain and fear in children with type 1 diabetes mellitus.

Background: Pain and fear associated with insulin injections can cause children with type 1 diabetes mellitus to avoid insulin injections and skip doses.

Objective: To evaluate and compare pain and fear levels in children aged 6-12 years receiving subcutaneous insulin injection using the manual pressure and ShotBlocker methods.

Methods: A randomized controlled study was conducted with 90 children with type 1 diabetes who were allocated using block randomization to the manual pressure, ShotBlocker, and control groups (n = 30 in each group).

Diagnostic Pitfalls of a Newborn with Congenital Nephrogenic Diabetes Insipidus.

Congenital nephrogenic diabetes insipidus (NDI) is a rare cause of hypernatremia in newborns. Central diabetes insipidus (CDI) is the main differential diagnosis of NDI. NDI responds poorly to desmopressin acetate (DDAVP) treatment while this is the mainstay of CDI management.

Human chorionic gonadotrophin secreting adrenocortical neoplasm presenting with peripheral precocious puberty in an infant.

Adrenocortical tumor (ACT) is a rare malignant tumor which usually present with Cushing syndrome and virilization. Paraneoplastic syndromes (PNS) due to neoplasms can occur with peptides or cytokines secreted by the tumor. Here, we report a 13-month-old-male presented with severe masculinization.

The effects of the covid-19 pandemic on puberty: a cross-sectional, multicenter study from Turkey.

Backgrounds: During the Coronavirus-19 disease (Covid-19) pandemic it was observed that the number of girls presenting with early puberty had increased. The aim of this study was to carry out a retrospective evaluation of the characteristics of girls who had been referred for evaluation of precocious puberty in five different pediatric endocrinology units, before and during the pandemic.

Methods: The study participants comprised 359 girls who were assigned into 2 groups a pre-pandemic group (n:214) and a pandemic group (n:145).

Psychometric Properties of the Turkish Version of the Diabetes Strengths and Resilience Measure for Adolescents with Type 1 Diabetes.

Objective: Resilience in diabetes refers to the capacity overcome diabetes-related challenges to achieve favorable psychosocial and health outcomes. Despite the known benefits of resilience in adolescents with type 1 diabetes mellitus (T1DM), there tends to be more emphasis on risk factors in research and practice. This study evaluated the psychometric properties of the Diabetes Strengths and Resilience Measure for Adolescents with Type 1 Diabetes (DSTAR-Teen) in Turkey.

Sacroiliac joint involvement in children with inflammatory bowel diseases.

Objective: Sacroiliitis (SI), an inflammatory arthropathy, may accompany pediatric inflammatory bowel diseases (IBDs), present with non- specific back pain, hence might be unnoticed. The aims of this study were to assess the frequency of the SI in children with IBD and determine the characteristics of the association of SI with the clinical hallmarks of the IBD.

Methods: In this prospective, cross sectional study, twenty-seven children with IBD, 7-18 years of age were evaluated.

Steroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiency.

Context: There is a significant challenge of attributing specific diagnoses to patients with primary adrenal insufficiency of unknown etiology other than congenital adrenal hyperplasia (non-CAH PAI). Specific diagnoses per se may guide personalized treatment or may illuminate pathophysiology.

Objective: This work aimed to investigate the efficacy of steroid hormone profiles and high-throughput sequencing methods in establishing the etiology in non-CAH PAI of unknown origin.

Evaluation of metabolic parameters and aortic elasticity in normotensive children with premature adrenarche.

Objectives: Premature adrenarche may be associated with an intrauterine programmed metabolic syndrome which should be considered as a warning sign for coronary heart disease due to accelerated atherosclerosis, hypertension, type 2 diabetes mellitus (DM), and polycystic ovary syndrome.

Methods: Seventy-three patients with premature adrenarche were evaluated for metabolic parameters and aortic elasticity to evaluate the susceptibility to atherosclerosis and compared with a control group. The patients were examined in two groups as overweight and nonoverweight, and metabolic and cardiac parameters were also compared among these groups.

Significant improvement in bone mineral density in pediatric celiac disease: even at six months with gluten-free diet.

Objectives: Patients with celiac disease had significantly decreased bone mineral density even in patients with no gastrointestinal symptoms. Only few bone studies are available on pediatric patients with celiac disease.

Methods: Forty-six patients underwent measurement of areal bone mineral density (aBMD) by dual-energy X-ray absorptiometry (DXA) before the initiation of gluten-free diet.

The relationship between vitamin D level and hepatosteatosis in obese children.

Objective: The increasing incidence of obesity in children is a significant risk factor for nonalcoholic fatty liver disease and obesity-associated morbidity. In the present study, we aimed to explore the correlation between Vitamin D level and hepatosteatosis in obese children.

Methods: A total of 110 children aged 10-16 years who presented to pediatric endocrinology outpatient clinic for obesity were enrolled.

Obesity-related thyroiditis in childhood: relationship with insulin resistance.

Background Thyroid dysfunction is the most common hormonal abnormality in obesity. It should actually be considered as an adaptation response to fat excess. However, little has been reported on the morphology of the thyroid gland, and no data regarding the relationship between thyroid gland changes and metabolic parameters are available in obese adolescents.

Ocular surface evaluation in pediatric Hashimoto's thyroiditis without thyroid-associated ophthalmopathy.

Purpose: We aimed to assess ocular surface characteristics in children with Hashimoto's thyroiditis without thyroid-associated ophthalmopathy and compare the results with those of healthy children.

Methods: Twenty-two children with Hashimoto's thyroiditis (Group 1) and 20 healthy children without any ocular and/or systemic disorder (Group 2) were enrolled in the study. Ocular Surface Disease Index questionnaire, tear film osmolarity measurement (TearLab Osmolarity System, San Diego, CA, USA), Schirmer and tear film breakup time tests, meibography, and conjunctival brush cytology were performed and compared the results between the groups.

Hepatopathies in children and adolescents with type 1 diabetes.

Background Diabetes and hepatosteatosis are dramatically increasing in childhood. Non-alcoholic fatty liver disease (NAFLD) is defined as a common disorder in adulthood, especially with type-2 diabetes and metabolic syndrome, while very few studies are available on liver health in children with type-1 diabetes. Patients and methods One hundred and ten (52 males and 58 females) patients with type-1 diabetes aged between 8 and 18 years were examined.

A case series of benign transient hyperphosphatasemia from a pediatric endocrinology reference health facility in Turkey.

Introduction: Benign transient hyperphosphatasemia (BTH), even a known condition, is not very well managed by primary care physicians. The diagnostic criteria for BTH were alkaline phosphatase (ALP) levels above 3-5 times greater than the age adjusted upper limit of normal among children under 5 years with no evidence of liver or bone disease whose ALP values resolved within 4 months.

Methods: This study involved 15 patients aged 0-5 years, who were referred to the pediatric endocrinology clinic for elevated ALP levels.

Magnesium and Anti-phosphate Treatment with Bisphosphonates for Generalised Arterial Calcification of Infancy: A Case Report.

Generalized arterial calcification of infancy (GACI) is a rare autosomal-recessive disorder, characterized by calcification of the internal elastic lamina, fibrotic myointimal proliferation of muscular arteries and resultant arterial stenosis. Treatment with bisphosphonates has been proposed as a means of reducing arterial calcifications in GACI patients, although there is no formalized treatment approach. The case reported here was a patient with severe GACI diagnosed at three months of age who had no response to bisphosphonate treatment, but clinically improved after the initiation of magnesium and anti-phosphate (using calcium carbonate) treatments.

Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A.

Objective: Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in the 1α-hydroxylase gene (). As it may be confused with nutritional rickets and hypophosphatemic rickets, genetic analysis is important for making a correct diagnosis.

Methods: We analysed genomic DNA from 11 patients from eight different Turkish families.

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.

Cholestasis and hypercalcemia secondary to panhypopituitarism in a newborn.

Dursun F, Gerenli N, Kırmızıbekmez H. Cholestasis and hypercalcemia secondary to panhypopituitarism in a newborn. Turk J Pediatr 2017; 59: 100-103.

A rare cause of respiratory distress and edema in neonate: Panhypopituitarism.

Clinical presentation of hypopituitarism may be variable in the neonate. Symptoms are generally nonspecific, ranging from absent to severe, and even life-threatening, due to adrenocorticotrophic hormone deficiency. Presently described is a case of unexplained respiratory distress and edema in a neonate.