Relationship between visceral adiposity index and glycemic and metabolic control in children and adolescents with type 1 diabetes mellitus.

BACKGROUND: Visceral Adiposity Index (VAI) is a gender-specific mathematical model based on BMI, waist circumference (WC) and lipid parameters. No study has yet examined the relationship between this index and the glycemic and metabolic parameters in children and adolescents with Type 1 Diabetes Mellitus (DM). The current study aims at examining the relationship between glycemic and metabolic control and VAI in children and adolescents with Type 1 DM. METHODS: A total of 150 children and adolescents aged 6-18 years with Type 1 DM were included in this study. Anthropometric, glycemic and metabolic parameters were examined. VAI was calculated using gender-specific formulas. Statistical analysis was done by SPSS version 23. RESULTS: The average age of the participants was 12.2 ± 3.1 years (females 53.0%). The females had higher rates of VAI, microalbuminuria and hypertension than males. Participants of both gender with higher VAI quartiles had higher anthropometric measurements, insulin usage, low-density lipoprotein cholesterol (LDL-C), triglycerides and urine microalbumin and had poor glycemic control. Sex adjusted correlation analysis showed that VAI is negatively correlated with estimated glucose disposal rate (eGDR), and positively correlated with insulin dose, LDL-C, triglycerides, glycosylated hemoglobin (HbA1c) and microalbuminuria. CONCLUSION: The present paper is the first study examining the relationship between Type 1 DM and VAI. Higher VAI values in children and adolescents with type 1 DM may adversely affect glycemic and metabolic control. VAI can be a useful and new method in evaluating glycemic and metabolic control in children and adolescents with Type 1 DM.

Common Polymorphisms of Growth Hormone: Growth Hormone Receptor Axis in Turkish Children with Short Stature.

OBJECTIVE: A single-nucleotide polymorphism of the growth hormone 1 gene, GH1IVS4+90A>T (rs2665802), associated with short stature and a polymorphism of the growth hormone receptor gene, exon 3 deleted variant, associated with increased responsiveness to growth hormone have been reported previously. We aimed to investigate the frequency of both polymorphisms and their correlation to height in Turkish short children. Also, we aimed to evaluate the effect of exon 3 deleted variant on response to 1-year growth hormone therapy. MATERIALS AND METHODS: Children with idiopathic isolated growth hormone deficiency (n = 39) and with idiopathic short stature (n = 10) and 50 control subjects were evaluated for anthropometric parameters, annual growth velocity, and annual height gain. Growth hormone receptor gene polymorphisms were analyzed via multiplex polymerase chain reaction; growth hormone 1 gene polymorphism was analyzed via polymerase chain reaction and single-strand conformation polymorphism techniques. RESULTS: The frequency of genotypes carrying the "A" allele was not significantly higher in the idiopathic isolated growth hormone deficiency group than in the idiopathic short stature and control groups (P = .03 for each). The exon 3 deleted variant genotype was significantly lower in the idiopathic short stature group compared to the control group (P = .01). There was no effect of exon 3 deleted variant, on response to the first-year growth hormone therapy. CONCLUSION: In Turkish population, no correlation was found between the "A" allele of GH1IVS4+90A>T polymorphism and idiopathic isolated growth hormone deficiency and short stature, and a significant negative correlation was found between exon 3 deleted variant and idiopathic short stature and short stature. Exon 3 deleted variant has no effect on response to growth hormone treatment.

Clinical, molecular, and genetic evaluation of galactosemia in Turkish children.

AIM: Galactosemia is a carbohydrate metabolism disorder with autosomal recessive inheritance. The most frequent enzyme deficiency is galactose-1-phosphate-uridylytransferase, which causes classic galactosemia. When the enzyme is absent, an infant cannot metabolize galactose-1-phosphate and it cumulates in liver, kidney, brain, tongue, lens, and skin. This study aimed to evaluate the clinical and molecular characteristics of patients with galactosemia, which is observed more frequently in our country than anywhere else in the world. MATERIAL AND METHODS: This is a retrospective study that includes the moleculer and genetic charcteristics of 14 patient who were diagnosed as having galactosemia between January 2009 and January 2011. RESULTS: Nine patients were male and 5 female. Consanguineous marriage was detected in the family history of 7 patients. One patient had a history of a deceased sibling with a confirmed diagnosis of galactosemia. The main reasons for admission to the hospital were jaundice in 9, hypoglycemia in 2, sepsis in 2, and elevated liver enzymes in 1 patient. The Beutler test was positive in all patients. The mean enzyme activity was 0.36±0.26 µmol/mL. Only 6 of our cases were diagnosed in the early period (first 15 days). Cataract was present in four patients. Q188R mutation was observed in 13 patients, and homozygote N314D and homozygote E340X mutations were observed in one patient. Three patients had impaired neurologic development according to the Denver Developmental Screening Test II. CONCLUSION: The most common genetic abnormality was Q188R mutation. Only 43% of our patients's disease could be diagnosed at an early stage. We suggest that galactosemia should be included in the national newborn screening program in order to make earlier diagnoses.