ESPE Abstracts

Background: The pycnodysostose is a genetic lysosomal disease wich is characterized by a ostéosclérose of the skeleton, a small and an osseous brittleness. The pycnodysostose is very rare, its exact prevalence is unknown but it is lower than 1/100,000. The disease is discovered at a variable age, has going from 9 months to 50 years. Transmitted according to a recessive autosomic mode of to a deficit in cathepsine K enzyme which plays a central role in the osseous res...

Background: CSII has some potential advantages and disadvantages for young children. For many young patients, it is easier and more convenient to take multiple daily doses of insulin with CSII than with a syringe or insulin pen.Objective and hypotheses: The growing popularity of type 1 diabetes (DM1) treatment based on continuous subcutaneous insulin infusion (CSII) raises a question of the group of patients that benefit most from the treatment.<p cl...

Background: A neonate, born at 34 weeks gestation by caesarean section for foetal distress, was severely growth retarded at birth. Deranged liver functions were noted at birth with (alanine transaminase (ALT), aspartate transamninase (AST) and gamma-glutamyl transfererase (GGT) recorded as 102, 228 and 1078 U/l respectively. The GGT rose to a peak of 3877 U/l at 6 months of age. The clinical course of the neonate was associated with failure to thrive and intermittent hyperglyc...

Background: Heterozygous loss-of-function HNF4A mutations are known to lead to monogenic diabetes, and in infants to macrosomia and hyperinsulinemic hypoglycemia. We are reporting a patient with a heterozygous HNF4A mutation (c.997C>T p.ARG333Cys) presenting with persistent ketotic hypoglycemia.Case report: In a 38 weeks’ gestation infant (birth weight 4.1 kg, pregnancy complicated by insulin-requiring gestational diabetes), hy...

Background: Rathke’s cleft cyst (RCC) has been reported rarely in children and adolescents. The occurrence of RCC with hypoplastic anterior pituitary can be explained by their common embryologic origin. However, the effects and sfety of recombinant human GH (rhGH) in GH deficient (GHD) children with RCC has not been previously reported.Objective and hypotheses: To assess the effects and safety of recombinant human GH (rhGH) in GH deficient (GHD) chi...

Background and aim: Severe hypoglycemic episodes during the daytime of Ramadan fasting is the most feared complication. Sensor-augmented pump therapy with insulin in combination with automatic insulin shutoff (low glucose suspend (LGS)) can be used to reduce hypoglycemia. In a prospective observational study, we investigated the effect of the LGS algorithm on the frequency of hypoglycemia in adolescents with type 1 diabetes who wished to fast Ramadan 2013.<p class="abstext...

Introduction: Obesity is known to associate with chronic systemic inflammation. However, hypothalamic inflammation also occurs in response to high fat diet (HFD)-induced obesity and is proposed to participate in central insulin/leptin resistance and the perpetuation of weight gain and systemic affectation. The weight gain and central responses to HFD differ between males and females. As hypothalamic glial cells are implicated in the central inflammatory response we hypothesize...

Background: A combination of GH and a GnRH agonist is sometimes used to improve adult height in children with a poor height prediction, only few studies support this.Study design: In this multicenter study, 24 short girls in early puberty, with a bone age below 12.0 years, an adult height prediction below 151.0 cm and normal body proportions were treated with GH (Zomacton) transjections 50 μg/kg per day and triptorelin (Decapeptyl) i.m. (3.75 mg/mon...

Objective: To assess the effects and safety of recombinant human GH (rhGH) in GH deficient (GHD) children with Rathke cyst.Methods: The clinical data of 12 GHD children aged from 5–12 years old, whose radiologic diagnosis showed Rathke cyst during Jan 2010–Dec 2012 in our hospital, were analyzed retrospectively. rhGH was given subcutaneously to each enrolled child with a night dose of 0.1 IU/kg six to seven times a week for 12–30 months. T...

Background: Epidemiological evidence in Europe indicates the increasing prevalence of premature puberty, especially in girls. This may be attributed to in utero and early-life exposure to environmental estrogen-like compounds present in pesticides, plastics (bisphenol A, phtalates …) and beauty products.Objective and hypotheses: The aim of this study was to assess the prevalence of premature thelarche (PT) and central precocious puberty (C...