ESPE Abstracts

Background: Neonatal diabetes (NDM) is defined as diabetes developing before 6 months of age, affecting one in 100 000 live births. Permanent NDM is diagnosed in the first 6 months of life with no remission. The majority have a mutation in the ATP-sensitive potassium (KATP) channel (KCNJ11 in 31%, ABCC8 in 13%). Autosomal dominant and recessive forms are described. The majority of patients with NDM caused by KATP mutations respond to sulphonylureas.<p...

Abstract: Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn. Octreotide, a long-acting somatostatin analogue (SSA), is a second line treatment for diazoxide unresponsive CH patients. Although it has been found to be a safe and effective treatment, long-term benefits and side effects have not been thoroughly evaluated. Furthermore, some authors have emphasized that exocrine pancreatic insufficiency is a common ...

Aim: The work was initiated to assess functional condition of the kidneys and to study interrelation between ACE gene I/D polymorphism and stage of chronic kidney disease in children and adolescents with type 1 diabetes mellitus (DM) in compliance with K/DOQI recommendations (2002).Materials and methods: We examined 120 children and adolescents with type 1 DM, 53 (44.2%) males and 67 (55.8%) females among them (mean age 13.8±0.24 years; 95% CI: 13.3...

Objective and hypotheses: The work was initiated to assess functional condition of the kidneys and to study interrelation between ACE gene I/D polymorphism and stage of chronic kidney disease in children and adolescents with type 1 diabetes mellitus (DM) in compliance with K/DOQI recommendations (2002).Method: We examined 120 children and adolescents with type 1 DM, 53 (44.2%) males and 67 (55.8%) females among them (mean age 13.8±0.24 years. GFR wa...

Background: Hypophosphatasia (HPP) is the rare inherited metabolic disease resulting from loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Understanding of the clinical presentation is largely based on single case reports, which presents challenges for the recognition and diagnosis of HPP.Objective: To better understand disease presentation, we surveyed the literature to characterize clinical features and presentat...

Introduction: Premature ovarian failure (POF) is defined as a heterogeneous disease leading to amenorrhea and ovarian failure before the age of 40 years. It is found in 1-3% of women of reproductive age, with some negative consequences such as cardiovascular disease, osteoporosis and sexual dysfunction. Triple X syndrome is characterized by POF with primary or secondary amenorrhea, tall stature, large feet. Girls with triple X syndrome show accelerated growth ...

Objective and hypotheses: We analysed the prevalence of transient hypothyroidism in a cohort of children affected by CH with eutopic thyroid after Levothyroxine discontinuation.Method: 77 newborns (36 females, 41 males) affected by CH with eutopic thyroid from 1999 to 2011 were enrolled. The confirmation diagnosis of CH after screening was made within the first 15 days of life by assessing TSH value (mean 74.4±82.2 μU/ml n.v 0.5–4.2) and f...

Resistance to thyroid hormone mediated by defective TRβ (RTHβ) or TRα(RTHα).Separate genes (THRA, THRB) undergo alternate splicing, generating nuclear receptors (TRα1, TRβ1, TRβ2) with distinct tissue distributions, which mediate thyroid hormone action; the function of a non-hormone binding protein (α 2), derived from the THRA locus, is unknown.RTHβ a dominantl...

Background: A subset of central obese but normal weight individuals has been identified, who harbor potentially increased risks for development of MS despite a normal BMI.Objective and hypotheses: We try to evaluate metabolic syndrome (MS) components of normal weight central obese adolescents in Korea stratified by waist-to-height ratio (WHR).Method: This is a cross-sectional study. Data were obtained from the Korean National Healt...

Background: Clinical spectrum of 46 XY DSD is characterized by a greatest diversity. Atypical sex development can occur through different steps of testicular differentiation. Etiologies of 46 XY DSD are termed gonadal dysgenesis, hormonal dysfunction and action. Its global incidence is unknown but the most common presentation, hypospadias, is understood to occur in 1 in 125 male births, and complete androgen insensitivity has an incidence of 1:20,000 people.</...