ESPE Abstracts

Conventional treatment for obesity, founded on the First Law of Thermodynamics, assumes that all calories are alike, and that to lose weight one must ultimately “eat less and move more.” However, this prescription rarely succeeds over the long term. Calorie restriction elicits predictable biological responses – including increased hunger and reduced energy expenditure – that oppose ongoing weight loss. Indeed, the prevailing Energy Balance Model offers ...

Background: TransCon Growth Hormone is a once-weekly sustained-release prodrug of recombinant human growth hormone (hGH, somatropin). Based on the inert TransCon prodrug technology unmodified hGH is released with a Cmax and AUC comparable to daily therapy. TransCon hGH leverages the known pharmacology of daily hGH and is being developed for the treatment of growth hormone deficiency (GHD).Objective and hypotheses: Both hGH levels and resulting IGF-I leve...

Background: The lipodystrophy syndromes are a heterogeneous group of congenital or acquired disorders characterized by either complete or partial lack of adipose tissue (lipoatrophy). Berardinelli Seip congenital lipodystrophy (BSCL) is a rare metabolic disorder characterized by severe generalised lipodystrophy since birth, insulin resistance, and dyslipemia since early infancy.Case presentation: We report a 6-year-old girl who arrived from Pakistan with...

Background: Diencephalic syndrome (DS) is a rare disorder of severe emaciation classically associated with infantile Hypothalamochiasmatic low-grade gliomas (HCLGGs) and GH excess. However, diagnostic criteria remain undefined and published literature includes non-specific tumour-related cachexia. In a large optic pathway LGG cohort (n=166), we have previously demonstrated that DS independently predicts multiple tumour progressions and severe endocrine morbidity.<...

Background: Androgen Insensitivity syndrome (AIS), the most common cause of XY DSD, is an X-linked recessive allelic disorder caused by Androgen Receptor (AR) gene mutations. The complete form (CAIS) stems from abrogation of AR activity and is characterized by an external female phenotype and scarce pubic hair, as well as lack of Mullerian structures. Postnatal gonadotropin and testosterone levels are not increased, and the classical ‘Mini-puberty’...

Introduction: There is no valid evidenced-based recommendation for the optimum basal insulin dose in type-1 diabetes mellitus when supplied either by continuous subcutaneous insulin infusion (CSII) or multiple daily injections (MDI). We studied this previously by evaluating the dose associated with successful fasting. Another way of looking at this is by evaluating the association between basal insulin dose and HbA1c. To this end we performed a retrospective study of 89 childr...

Background: Distribution of TSH levels is not normal. This is due to physiological changes that cause temporary increases in TSH during physiological events. Several methods are used to normalize the distribution when defining normal limits.Objective and hypotheses: To compare the normal limits defined by three normalization methods vs non-normalized distribution based on a large cohort with no known thyroidal illness.Method: Data ...

Background: Homozygous mutations in STAT5B result in GH insensitivity and immune dysfunction. Heterozygous dominant negative mutations have not been described.Aims and objectives: To characterize genomic STAT5B DNA in two families exhibiting short stature.Methods: Sanger sequencing of STAT5B from genomic DNA. Mutant STAT5B constructs were expressed in HEK293 cells.Results: ...

Introduction: Action 4 Diabetes (A4D) is a UK non-profit organisation which has been providing free insulin and self-monitoring blood glucose test kits for children and young people (CYP) with type 1 diabetes (T1D) in Cambodia’s 2 large tertiary hospitals-Kantha Bopha II Hospital based in Phnom Penh (KB2H) and Jayavarman VII Hospital based in Siem Reap (J7H), since July 2018 and January 2020, respectively.Objective:</strong...

Introduction: As COVID-19 spread across Southeast Asia (SEA) in 2020-2021, healthcare systems in Cambodia, Laos and Myanmar braced as public health officials closed many outpatient diabetes clinics and healthcare professionals (HCPS) were redeployed to COVID-treatment zones. Action 4 Diabetes (A4D) is a UK non-profit organisation that has been providing free insulin and medical supplies to LMICs in SEA since 2016. With historically limited healthcare coverage ...