Published in Journal of Pediatric Endocrinology and Metabolism
Obesity, a complex, multi-factor and heterogeneous condition, is thought to result from the interaction of environmental and genetic factors. Considering the result of adolescence obesity in adulthood, the role of genetic factors comes to the fore. Recently, many genome-wide association studies (GWAS) have been conducted and many loci associated wi...
Published in Journal of Pediatric Endocrinology and Metabolism
ObjectivesNeonatal diabetes mellitus (NDM) is a rare monogenic diabetes form, occurring mainly from ATP-binding cassette subfamily C member 8 (ABCC8) and KCNJ11 mutations. ABCC8 mutations have also been found to cause adult-onset diabetes. What is new?: •Novel ABCC8 mutation in an NDM case •Heterogeneous clinical presentation of diabetes and respon...
Published in Journal of Pediatric Endocrinology and Metabolism
ObjectivesPrevalence of Maternal and congenital hypothyroidism is on the rise. To present the thyroid stimulating hormone screening results in babies born to hypothyroid mothers and assess the burden, aetiology of hypothyroidism in these babiesMethodsAll antenatal mothers attending our hospital during the study period were enrolled into the study. ...
Published in Journal of Pediatric Endocrinology and Metabolism
ObjectivesActivating germline mutations of the thyroid-stimulating hormone receptor (TSHR) are responsible for a rare form of neonatal nonautoimmune hyperthyroidism (NAH). We report the first case of familial neonatal neonatal nonautoimmune associated with c.1856A>G (p.Asp619Gly) variant in the TSHR gene.Case presentationWe describe an eight-year-o...
Published in Journal of Pediatric Endocrinology and Metabolism
ObjectivesThe purpose of this study was to evaluate the impact of recombinant human growth hormone (rhGH) on the development and progression of scoliosis in patients with idiopathic short stature (ISS).MethodsPatients with ISS who underwent rhGH treatment from 1997 to 2017 and were followed up for scoliosis screening with serial radiographic examin...
Published in Journal of Pediatric Endocrinology and Metabolism
BackgroundChildren and their mothers, who are usually the primary caregivers, are likely to be distressed due to type 1 diabetes (T1DM).Objectives(1) To assess diabetes-specific distress (DD) perceived by children and adolescents with T1DM and their mothers and association of distress between children and mothers. (2) To study the association of di...
Published in Journal of Pediatric Endocrinology and Metabolism
ObjectivesAlthough Acute Kidney Injury (AKI) has been described among childhood diabetes ketocidosis (cDKA) there is scarcity of literature on the role of concomitant rhabdomyolysis.MethodA retrospective chart review was undertaken (2014–2018) to identify cDKA who developed AKI and had evidence of rhabdomyolysis defined by serum creatine phosphokin...
Published in Journal of Pediatric Endocrinology and Metabolism
ObjectivesDefects in the IGF-1 receptor gene (IGF1R) induce IGF-1 resistance, characterized by intrauterine and postnatal growth retardation, normal or elevated serum IGF-1 levels, and feeding problems. Obesity, idiopathic growth hormone deficiency (IGHD), bone age advancement, and serum IGF-1 level in the lower half of the reference range are very...
Published in Journal of Pediatric Endocrinology and Metabolism
ObjectivesThis study aimed to determine the effects of continuous subcutaneous insulin infusion (CSII) treatment on anthropometric measurements, mean HbA1c, and insulin dosage in patients diagnosed under 5 years of age and compare with multiple-dose injection therapy (MDI).MethodsChildren with type 1 diabetes mellitus, diagnosed
Published in Journal of Pediatric Endocrinology and Metabolism
ObjectivesVariants in fibroblast growth factor receptor-1 (FGFR1) may either cause isolated hypogonadotropic hypogonadism (IHH) or Kallmann syndrome (KS). Although the relationship of genes classically involved in IHH with combined pituitary hormone deficiency (CPHD) is well established, variants in FGFR1 have been presented as a rare cause of this...
