ESPE Abstracts

Background: The phenotypic effects of single nucleotide polymorphisms (SNPs) may depend on their parental origin. PLAGL1 is an imprinted gene expressed from the paternal allele in placenta that is associated with fetal growth, transient neonatal diabetes mellitus and postnatal growth disorders. The mechanisms whereby PLAG1 regulates fetal growth are, however, unknown.Objective and hypotheses: To study if the preferential paternal transm...

Background: Sexual lifestyles including sexual activity, problems, satisfaction, and the formation of relationships, are greatly affected by physical health disorders. Fear from hypoglycemic episodes during sexual intercourse and intimacy issues can impact young adults with type 1 diabetes (T1DM).Objective and hypotheses: To assess sexual lifestyles of people with T1DM.Method: A total of 53 T1DM patients (51% males), mean±SD a...

Background: Monitoring of thyroid function in neonates born from mothers affected by autoinmune thyroid disease is not perfectly established. The influence of etiology of maternal disease, maternal thyroid peroxidase antibodies (TPOAb) and l-thyroxine therapy during pregnancy on neonatal thyroid function were also investigated.Method: 194 term neonates were tested for thyroid function by measurement of free thyroxine (FT4</s...

Background: A common polymorphism in the growth hormone receptor gene (d3-GHR) was found to be associated with pre- and postnatal growth and GH-induced growth. D3-GHR was associated with glucose metabolism in adults with GHD and acromegaly, but this has not previously been explored in children.Objective and hypotheses: We examined the impact of the GHR-exon-3 deletion on glucose metabolism and anthropometrics in short SGA children before and following 1 ...

Background: There is wide heterogeneity in responses to GH treatment in children born small for gestational age (SGA).Objective and Hypotheses: The aim was to explore the impact of genetic markers on glucose metabolism and growth during first year high-dose GH treatment in SGA children.Method: In North European Small for Gestational Age Study (NESGAS) patients received high-dose GH (67 μg/kg per day) the first year. 97 patient...

Background: Weight status in children is commonly defined using BMI (SDS), but this measure is problematic due to the skewness of the BMI distribution and its age-dependant increase. In addition, it is difficult for physicians or parents alike to grasp what a certain value means. Excess body weight (EBW) is frequently used in adult patients in the context of bariatric surgery.Objective and hypotheses: An appropriate definition for the paediatric populati...

Background: Congenital diarrheal disorders (CDDs) are a large group of life-threatening genetic disorders that are frequently difficult to diagnose. We report four siblings from consanguineous kindred with persistent generalized malabsorptive diarrhea hypothyroidism, GH deficiency, intermittent diabetes insipidus, and monogenic obesity.Objective and hypotheses: To find the genetic etiology for the CDD in four cases from consanguineous family using homozy...

Introduction: Congenital nasal pyriform aperture stenosis (CNPAS) is an increasingly recognised cause of upper airway obstruction associated with holoprosencephaly, of which solitary median maxillary central incisor (SMMCI) is the least severe form. Studies have described pituitary abnormalities in up to 40%. We aimed to determine the use of baseline endocrine investigations and MRI brain in assessing endocrine dysfunction.Method: Retrospective casenote ...

Background: The bone mass deficit in pediatric Crohn’s disease (CD) is associated with low total body lean mass and suppression of bone turnover.Objective and hypotheses: We examined at diagnosis whether the sarcopenia is associated with leg muscle hypofunction, changes in tibia muscle–bone indices as well as overt bone strength loss (vertebral fractures, VF).Method: 70% children with CD were studied within 2 weeks of dia...

Background: Boys affected with Duchenne Muscular Dystrophy (DMD) have lower bone mineral density compared with unaffected boys.Objective and hypotheses: We sought to determine the effects on bone mineral density (BMD) of 1 year treatment with Risedronate and calcium/vitamin D supplementation vs calcium/vitamin D supplementation alone.Method: BMD was measured at spine and whole body. We obtained early morning fasting blood samples f...