ESPE Abstracts

Background: Liraglutide is a glucagon-like peptide analogue which was approved for use in children and young people as an option for managing obesity in December 20201. It is to be used in tier 3 services alongside a reduced-calorie diet and increased physical activity in children more than 12 years if they have a BMI SDS age-equivalent more than 30kg/m2 for adults. We describe our initial experiences of using liraglutide in a tier 3 paed...

Background: Glypican-4 is a heparan sulphate proteoglycan. In addition to a membrane-bound glypican-4, a soluble form exists. Human and rodent adipose tissue were identified as source of circulating glypican-4. Glypican-4 serum levels are associated with obesity and insulin resistance, as in type 2 diabetes (T2D). Because of its positive effect on insulin sensitivity, glypican-4 might play a role in the development of obesity, insulin resistance, and T2D. We a...

Background: Although metabolically obese normal weight (MONW) adults are at increased risk of type 2 diabetes and cardiovascular disease (CVD), little is known regarding MONW children.Objective and hypotheses: To characterize lifestyle habits and insulin dynamics of MONW children.Method: Caucasian youth (n=630) aged 8–10 years, with at least one obese biological parent, were studied (QUALITY cohort). We defined MONW c...

Background: Between the 6000 monogenic disorders, only few are due to a single mutation. Recently, a specific mutation has been described in TUBB3, encoding tubulin beta 3, in the association of Moebius syndrome (MS) and Kallmann syndrome (KS). MS is a congenital paralysis of eye and face’s muscles and can be caused by mutations of TUBB3. KS combines hypogonadotropic hypogonadism and anosmia.Objective and hypotheses: The combination of these two syn...

Background: McCune–Albright syndrome (MAS) is a complex disorder characterized by the triad of fibrous dysplasia of multiple bones, café-au-lait skin macules and endocrinopathies.Objective and hypotheses: Long-term treatment of a boy with gigantism due to MAS.Method: Case report.Results: We present the clinical course of a now 14 years old boy with MAS and GH excess, clinical signs of precocious pub...

Background: We present a boy with classical adrenal hyperplasia (CAH) and constantly increased 17-OH-progesterone (17-OH-P) values despite multiple dose adjustments of hydrocortisone up to 18 mg/m2 body surface and addition of fludrocortisone. After puberty, therapy was changed from hydrocortisone to prednisone without improvement of the 17-OH-P values. Non-compliance was suspected as cause of the inadequately controlled CAH. Alternatively, an atypical steroid metab...

Background: Hypoglycaemia represents a common issue in diabetic children, and the achievement of good metabolic control together with the avoidance of hypoglycemia remains a tightrope walk. As hypoglycaemia is not always recognised, data about hypoglycemia frequency are limited.Aims: We previously reported about nocturnal hypoglycaemia in diabetic children. This study now focusses on the frequency and duration of hypoglycemia at daytime and risk factors ...

The 5α-reductase deficiency type 2 is a rare autosomal recessive 46,XY disorder of sexual development (DSD), presenting with a wide clinical spectrum ranging from a male phenotype with hypospadias to a female phenotype with wolffian structures. Here we report about the clinical, hormonal and molecular characterization of two siblings with a mutation in the SRD5A2 gene, as well as the challenge of gender identity and the importance of psychosocial care. The older sibling ...

Background/aim: The PTEN hamartoma tumor syndrome (PHTS) is an overgrowth syndrome caused mainly by germline mutations in the tumor suppressor PTEN. Patients are predisposed for the development of malignant and benign tumors. Children and adolescents with PHTS frequently develop single or multiple lipomas. PTEN antagonizes the phosphatidylinositide3-kinase/AKT/mechanistic target of rapamycin (PI3K/AKT/mTOR) pathway, which promotes proliferation and differentiation in ...

Background: Puberty is a time of hormonal changes that are associated with insulin resistance. Although insulin sensitivity is restored at the end of puberty in healthy youth, it does not resolve in obese adolescents leading to an increase of cardio metabolic disease such as type 2 diabetes. In response to an increase in insulin demand, as during pregnancy or obesity-induced insulin resistance, β-cells increase their functional mass to maintain glucose homeostasis. Howeve...