ESPE Abstracts

Background: The use of antipsychotic medication in medical practice is increasing in Europe. Antipsychotics have serious adverse effects like weight gain.Objective: Aim was to explore metabolic risk factors and glycaemic control in youths with type 1 diabetes treated with typical or atypical antipsychotics.Design and methods: Data of children, adolescents, and young adults with type 1 diabetes up to the age of 25 years and with dia...

Background: The molecular diagnosis of McCune Albright syndrome (MAS) is difficult because the detection of somatic GNAS1 mutations is usually performed in blood, in which the fraction of mutated allele could be barely detectable. To improve the usual techniques (selective enrichment, either with nested PCR and enzymatic digestion or with use of peptide nucleic acid probes), and to avoid technical problems like contamination, a new approach using next generation seque...

Introduction: Allgrove syndrome is a rare autosomal recessive disorder involving alacrymia, achalasia, Addison’s disease (3A) and neurological disorders (4A), it results from mutations in the AAAS gene located on chromosome 12q13 which codes for a protein known as ALADIN (ALacryma Achalasia aDrenal Insufficiency Neurologic disorder). Alacrymia is diagnosed by Schirmer’s test, achalasia by esophageal manometry while adrenal insufficiency is confirmed ...

Background: A rapid weight gain during infancy increases adult lean body mass, whereas weight gain during adiposity rebound at age 4-7 years results in increased adult fat mass and an increased risk of the metabolic syndrome and T2D. To understand the impact of age of obesity onset on growth, we classified non-syndromic childhood overweight into an early onset (EO, age 0-3) and a late onset (LO, age 3-7) group and characterized the growth patterns of the two.<...

Background: The use of GnRHa in central precocious puberty is known to slow puberty progression, subsequently prevent early menarche, and attenuate the height loss by advanced skeletal maturation. But enhancing the final height was so controversial that an additional approach has been used.Objective and hypotheses: To investigate the age of menarche, and the height outcomes in central precocious girls treated with GnRHa (n=61) or combined GH (<e...

We evaluated the anthropometric measures using WHO growth charts (z scores) from birth, 2,4,6,12,18 and 2 years for 79 IDM presented with significant neonatal hypoglycemia in comparison to 51 infants of INDM who had significant hypoglycemia due to transient hyperinsulinemia who required treatment for >2 days.Results: IDM had WAZ = -0.8 +/- 1.74, L AZ = -0.6 +/- 1.72 and WLZ = -0.96 +/- 1.9. They IDM were heavier and taller than the IN...

Background: Estimation of the child’s genetic height potential (target height) is an important tool in evaluating growth disorders. Midparental height (MPH) calculated as (Mothers height+Fathers height)/2±6.5 cm), used for this purpose, represents the child’s expected height based on parental heights.Objective and hypotheses: To evaluate the classical MPH calculations for our population and to explore the optimal MPH model using different ...

Objective: Infants born to mothers with glucose intolerance are at an increased risk of having growth abnormalities at birth and postnatally. This study evaluated the growth pattern of IDMs from birth to the age of 2 years.Research Design and Methods: Anthropometric measures (z scores) from birth, 2,4.6,12,18 and 2 years were measured in 60 IDM and 40 infants of non-diabetic mothers who presented with significant neonatal hypoglycemia (p...

Background: In children born SGA with persistent short stature, growth hormone (GH) treatment is an approved therapy for increasing adult height (AH). Some SGA children have an advanced bone age (BA) during GH. Heterozygous mutations in the ACAN-gene have been described in children with idiopathic short stature and advanced BA.Objective and hypotheses: To assess growth during GH treatment with additional GnRHa treatment, in children with ACAN-gene mutati...

Background: Growth in height during puberty can be described by the QEPS-model as a combination of continuous basal growth, QES, and a specific pubertal growth function, P.Objective and hypotheses: To study the relationship between childhood BMISDS and the prepubertal gain and pubertal gain related to growth functions from the QEPS-model.Method: The longitudinally followed GrowUpGothenburg 1990 birth co...