ESPE Abstracts

Background: Insulinomas are extremely rare tumors in children and an uncommon first manifestation of the MEN1 syndrome. An early clinical and genetic diagnosis is very important for the appropriate medical assessment and family counseling. In children, insulinomas are usually benign tumors with only a few reports of malignant cases.Objective and hypotheses: To investigate clinical features, genetic and morphological characteristics of 12 children with pr...

Background: The correlation between obesity and depression is well established. Tryptophan (Trp) is an essential amino acid that acts as substrate for serotonin and melatonin biosynthesis, both know to play a role in satiety, anxiety, and depression. Furthermore, low plasma Trp levels have been associated with obesity.Objective: To investigate the effects of Trp supplementation as a conjunctive therapy to conventional life-style intervention on weight lo...

Background: Severe Ovarian Dysgenesis (OD), a rare heterogeneous XX disorder of Sex Development presents clinically with primary amenorrhea, hypergonadotrophic hypogonadism and infertility. The genetic basis of OD remains unknown in 70% of cases. To identify novel causes of OD, we study patients in which known genes have been excluded.Methods: Whole-exome-sequencing was performed in a 14.5y old Ashkenazi Jewish, non-cons...

Background: Insulinomas are very rare in childhood with sparse knowledge on the clinical aspects and the presence of Multiple Endocrine Neoplasia type 1 (MEN1).Methods: We conducted a multicentre retrospective review of patients diagnosed with insulinoma between 1995-2021. Clinical, biochemical, genetic, imaging and histological data were collected. In addition, follow-up and family data were obtained.<p class="abste...

Neonatal diabetes is characterised by hyperglycaemia in the first 6 months of life. Transient neonatal diabetes (TND) is differentiated from permanent neonatal diabetes by its remission in infancy/early childhood, with possible relapse during adolescence in 50% of the cases. Incidence of neonatal diabetes is thought to range from 1:90,000 to 1:160,000. A gene mutation affecting pancreatic beta cells synthesis/secretion of insulin is present in more than 80% of the cases. Overe...

Diazoxide Choline Controlled Release Tablet (DCCR) is under development for the treatment of Prader-Willi syndrome (PWS). The objective of this research was to characterize single dose and steady state pharmacokinetics, dose linearity and food effects of DCCR across five clinical studies. Single dose pharmacokinetics of DCCR were compared to diazoxide oral suspension (Proglycem®) in a study in obese subjects (PK001). Steady state pharmacokinetics were evaluated...

Background: Precocious puberty (PP) in girls is defined by the appearance of secondary sex characteristic before the age of 8 years. Numerous studies reported no deficit of final adult height in girls with pubertal onset between 6-8 years compared with their genetic height, however, there were limited studies on the aspect of psychological outcomes of PP girls compare with the same age prepubertal girls.Objective: To eva...

Introduction: Primary ovarian Insufficiency (POI) occurring in youth is a devastating condition. POI is characterized by at least 4 months of disordered menses in association with menopausal follicle stimulating hormone (FSH) levels. The most common causes of POI in adolescence are iatrogenic and chromosomal abnormalities. Data are scarce regarding the incidence of POI in adolescents.Objectives: We aimed to estimate the incidence and the distribution of ...

Background: Self monitoring of blood glucose (SMBG) is an important part of diabetes management. Continuous glucose monitoring system (CGMS) provides the real time measurements of users’ glucose levels. The NICE guideline recommends use of CGMS if there is persistent hypoglycaemia unawareness or repeated hypoglycaemia or hyperglycaemia. In our paediatric diabetes clinic within a large DGH, we have a cohort of 12 children who were funded for the CGM use for a minimum of 1 ...

Background: Variety of defective thyroid hormone biosynthesis accounts for 15% of congenital hypothyroidism. Children with IYD gene (formerly DEHALI) mutation, which encodes thyroidal enzyme iodotyrosine deiodinase, cannot recycle iodine in thyroid gland. This results in urinary loss of iodine and hypothyroidism. The condition may be missed by neonatal screening programs.Case description: A male baby was born of non-cons...