Journal of Clinical Research in Pediatric Endocrinology

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BACKGROUND & OBJECTIVES: Short stature homeobox (SHOX) haploinsufficiency underlies idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD). The worldwide prevalence of SHOX variations in ISS varies from 2.5% to 15.0%. This study aims to assess the implication of SHOX variation in ISS in North Indians and its comparison with other cases of SHOX variations from Asian population. METHODS: SHOX gene analysis carried out by Multiplex ligation dependent probe amplification (MLPA) followed by Sanger sequencing in 54 patients with variable phenotypes...

OBJECTIVE: The postnatal activation of the hypothalamic-pituitary-gonadal(HPG) axis is usually known as "minipuberty". There are still open questions on its biological activity and significance depending on sex, gestational age(GA) and birth weight(BW) with few longitudinal data. METHODS: Single-centre longitudinal study to quantify urinary FSH(uFSH), LH(uLH) and testosterone(uTs) in male neonates. 46 neonates were enrolled and sorted into 3 subgroups: 23 full-term boys appropriate for GA(FT AGA), 11 full-term boys with BW≤3 rd centile(FT SGA), and 12 preterm(PT) boys≤33 weeks of GA...

OBJECTIVE: This study aimed to evaluate the neurological development of infants with transient premature hypothyroxinemia (THOP). METHODS: This prospective study included newborns who were born between 28-36 weeks of gestation (GW) and were admitted to neonatal intensive care unit. Newborns with maternal thyroid disease, severe intracranial problems, and congenital anomalies were excluded. Study group consisted of infants with THOP. Infants without THOP formed the control group...

Childhood-onset lymphocytic infundibuloneurohypophysitis (LINH) has rarely been reported. Pathological evaluation via pituitary biopsy is necessary for a definitive diagnosis of LINH. However, pituitary biopsy is a highly invasive procedure. Recently, anti-rabphilin-3A antibody (RPH3A-Ab) has been reported as a promising diagnostic marker for LINH in adults; however, there are few such reports in the pediatric population. We report the case of an 8-year-old boy with central diabetes insipidus (CDI) who was clinically diagnosed with LINH based on RPH3A-Ab positivity...

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Early detection of glycemic dysregulation and optimization of glycemic control at cystic fibrosis related diabetes (CFRD) is associated with improved pulmonary function and decreased mortality. The standard 2-hour oral glucose tolerance test (OGTT) is the current routine screening test for CFRD. However, hyperglycemia can be detected by continuous glucose monitoring systems (CGMS) in patients with normal OGTT evaluation. High-dose acarbose is an important alternative, in the treatment of glycemic dysregulation especially accompanied by hypoglycemia...

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare FGF23-independent disorder caused by biallelic variants in the SLC34A3 gene. The disease severity varies, and patients have an increased risk of developing renal complications. Phosphate supplementation is standard of care and active vitamin D analogs are not indicated as they could worsen the hypercalciuria. We report a Brazilian girl with HHRH who presented with knee pain and progressive genu valgum deformity that became apparent later in childhood (at age 8)...

INTRODUCTION: The rising epidemic of childhood obesity worldwide is a major public health challenge. Despite its urgency, there is a lack of data on the awareness and implementation of preventative measures. This study aims to identify areas for improvement in the prevention and management of childhood obesity worldwide. METHODS: A cross-sectional electronic survey was distributed to 132 national pediatric societies members of the International Pediatric Association...

Insulinoma is a rare cause of non-ketotic hypoglycemia both in adults and in children. Pediatric patients account for approximately 5% of all cases, mostly due to isolated benign lesions, but it can also be part of a multiple endocrine neoplasia type 1 syndrome (MEN1). We report the case of a patient with multiple hospitalizations related to hypoglycemia and neuroglycopenia symptoms, with multiple studies demonstrating the presence of an insulinoma as part of the spectrum of MEN1 syndrome. The primary significance of our report is to underscore that insulinoma can present as the initial manifestation of MEN1 syndrome in 10% of pediatric patients...

One-month old breastfeeding infant, full-term birth, with normal anthropometric measurements at birth is referred to Pediatric Nephrology due to a nephrocalcinosis. The patient presents dysmorphic features and heart disease. A metabolic study is conducted on blood and urine yielding results within normal parameters, except for renal concentration test and acidification test. At 6 months of age, patient presents overgrowth, which along with other clinical signs arouse suspicion of Sotos Syndrome. Molecular genetic testing detects heterozygous deletion in 5q35 between bands q35...

INTRODUCTION: Cardiovascular diseases (CVD) are the most important cause of morbidity and mortality in patients with T1D. Children with T1D had similar or higher prevalence of being overweight or obese compared to their healthy peers. In this study we aimed to determine prevalence of CVD risk factors in children and adolescents with T1D and the impact of obesity and sex differences on these factors. METHODS: Data of 365 patients (200 girls, 165 boys) who were 10-21 years of age and who had been using intensive insulin therapy with a diagnosis of T1D for at least 3 years were evaluated...

BACKGROUND: Vitamin D is a potent immune modulator and is associated with autoimmune diseases, predominantly Type 1 diabetes (T1D). Vitamin D status and its receptor gene polymorphisms in T1D are not yet investigated in the South Indian population. OBJECTIVE: The present study focuses on exploring the significance of vitamin D levels and Vitamin D receptor (VDR) gene polymorphisms with the risk of T1D in the South Indian population. METHODS: A total of 120 T1D patients along with 214 unaffected first-degree relatives (FDRs) were included in this study...

OBJECTIVE: The aim of this study is to evaluate the validity and reliability of the Turkish translation of the Parent Diabetes Distress Scale (PDDS). METHODS: The PDDS is a 5-point Likert-type scale with 20 items. After obtaining permission from the scale owner, the study commenced. First, a systematic adaptation of the scale to the Turkish language was performed (translation, expert panel, back translation, pilot study). Test-retest was applied to 35 participants...

Lateral neck lesions in children are common and involve various infectious or inflammatory etiologies as well as embryological remnants such as branchial cleft cysts. Although unusual, ectopic thyroid tissue can also present as a lateral neck mass. Here, we present an unusual case of a 15-year-old girl treated for an asymptomatic lateral neck mass that after surgical removal was found to be papillary thyroid carcinoma (PTC). However, after removal of the thyroid gland, no primary thyroid tumor was found. The question arose whether the lateral neck lesion was a lymph node metastasis without identifiable primary tumor (at histological evaluation) or rather malignant degeneration of ectopic thyroid tissue...

INTRODUCTION: Congenital adrenal hyperplasia (CAH) is an inherited condition in which individuals require multiple daily doses of medication and are at risk for life-threatening adrenal crisis. The chronicity and severity of CAH place children at risk for psychiatric morbidity. This study aimed to identify the degree of anxiety and depressive symptoms in children with CAH. METHODS: A cross-sectional cohort study of children (7-17 years) with CAH and their caregivers were recruited from May-December 2021...

OBJECTIVE: We aimed to compare the pulse wave analysis (PWA) of obese children with and without metabolic syndrome (MS) with healthy non-obese children and to evaluate the reflections of additional risk factors that children with MS have in addition to obesity on PWA. METHODS: Among all obese patients examined between June 2019 and June 2021, 41 patients with MS, 36 obese patients without MS, and 34 healthy non-obese children of similar age and gender were evaluated retrospectively...

AIM: This study aimed to compare the development of early diabetic retinopathy (DR) findings, a microvascular complication, between patients with type 1 DM and autoimmune thyroiditis (AT) (group 1), patients with isolated type 1 diabetes mellitus (DM) (group 2), and healthy controls (group 3), who were matched for age, sex, number, and body mass index for comparison. METHODS: In this prospective observational study, individuals aged 10-20 years were included, and patients in groups 1 and 2 were followed up for ≥5 years...

OBJECTIVE: Both body weight (BW)- and body surface area (BSA)-based dosing regimens have been recommended for growth hormone (rhGH) replacement. The aim was to compare the two regimens to determine if either resulted in inadequate treatment depending on anthropometric factors. METHODS: The retrospective study included children diagnosed with idiopathic isolated growth hormone deficiency. BW-based dosing in mcg/kg/day was converted to BSA in mg/m2/day to determine the equivalent amounts of the given rhGH...

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