ESPE Abstracts

Background: Diabetes mellitus (DM) is a chronic metabolic disorder requiring daily care to prevent both acute and chronic complications. Intensive support to facilitate coping and self-care skills is advocated. Healthcare providers are challenged to manage the transition of adolescents from paediatric to adult diabetes services.Objective and hypotheses: While centres providing structured integrated paediatric and adult care seem optimal, many patients op...

Background: T3-P-GD, a severe, rare disorder well known in adults, has not previously been described in children. It is characterized by persistently high serum fT3 concentration and normal, or even low, fT4 concentration during drug treatment. This condition is associated with very high titers of TRAb and large goiters, but its pathogenesis remains unclear. The recognition of this form of GD in children is of particular importance, as higher antithyroid ...

Background: Congenital hyperinsulinism in infancy (CHI) is a neonatal disorder of uncontrolled insulin release leading to profound hypoglycaemia. In addition to defects in pancreatic β-cell function, we have recently demonstrated that the CHI pancreas is highly proliferative, with rates of proliferation up to 14-fold higher than in age-matched controls.Objective and hypotheses: As patients require pancreatectomy to alleviate hypoglycaemia, our aim w...

Background: In Turner syndrome (TS), Shox haploinsufficiency accounts largely, but not entirely, for the short stature of patients, which has been estimated at a mean loss of 20 cm with respect to target height. GH treatment has been shown to improve adult height (AH), although individual outcomes vary markedly. Little is known about the relationship between the dosage effects of the X-linked gene and responsiveness to GH.Objective: To determine whether ...

Background: Over the past 20 years there is growing evidence that onset of puberty and changes in body proportions occur at an earlier age, especially in girls. Several studies have suggested this trend is linked to increasing rates of overweight and obese children. However, data on delayed pubertal trends are scant.Objective and hypotheses: To characterize body proportions of children evaluated for pubertal disorders.Method: Retro...

Cowden syndrome (CS) is a cancer predisposition syndrome. The clinical hallmarks of CS are macrocephaly and mucocutaneous lesions. Several tumor types have been described, mostly malignancies of the breast, thyroid, endometrium, kidney and colorectum. The age of onset is extremely variable. So far, only two case reports of children with ovarian tumors in the context of CS have been published, a granulosa cell tumor of a 16-year-old girl (Smpokou et al. 2014) and a bilateral en...

Background: Secondary forms of diabetes mellitus (DM) are underdiagnosed in children and adolescents with cancer because despite the whole body of evidence that asparaginase, steroids and total body irradiation increase the risk of developing DM, risk factors are missing and – asides from treatments – understudied (e.g., pre-existing obesity, sex, age, ethnicity, family history of DM). The objectives of our study were to assess the incidence and asso...

Background: Disproportionate short stature is seen in most individuals with X-linked hypophosphatemia (XLH). Vitamin D and phosphate supplementation can improve growth slightly. Burosumab showed minimal improvement of growth in older children. No growth data of XLH children that started burosumab at a very young age, i.e., between 1 and 4 years, are available.Methods: We included 17 XLH children (11 boys) who started bur...

Introduction: The leptin-melanocortin pathway plays a key-role in weight control. Pathogenic variants in the five major genes (LEP, LEPR, POMC, PCSK1, MC4R) are associated with early severe obesity. However, the specific associated phenotype with presence of mono-allelic variants and especially BMI trajectories are not well known.Objective: In order to identify specific profiles, we compared BMI trajectories during the f...

Introduction: Brain tumors are the most common solid neoplasm in children, and treatment often includes high-dose irradiation of the central nervous system (CNS). Although not universal, growth hormone deficiency (GHD) is a very common endocrine late effect after CNS irradiation in childhood. The consequences of GHD in adults are many e.g., reduced bone mineral density, fatigue, decreased lean body mass and adiposity, which implies that adults with severe GHD ...