ESPE Abstracts

Background: Disruption of the melanocortin-4 receptor pathway by genetic variants in POMC/PCSK1 or LEPR can result in hyperphagia and severe early-onset obesity. In the primary analyses of 2 pivotal Phase 3 trials, the melanocortin-4 receptor agonist setmelanotide was associated with significant reductions in body weight and hunger in patients with obesity due to proopiomelanocortin (POMC) or leptin receptor (LEPR) deficiency. These ...

Background: Anorexia nervosa (AN) is a primary psychiatric disease, complicated by serious endocrine disturbances. Hypogonadotropic hypogonadism with primary or secondary amenorrhea is the most common endocrine repercussion of AN, with consequent estrogen deficiency and concerns about bone mineral density. Furthermore, establishing regular menstrual cycles is considered as one of the important milestones in girls treated for AN.Aim: To quantify the estro...

Growth hormone (GH) is commonly used during childhood to treat short stature in Silver-Russell syndrome (SRS), but final height and long-term body mass index (BMI) data are limited.Objective: To evaluate height and BMI in older individuals with molecularly confirmed SRS and compare those previously treated with GH to those untreated.Methods: Growth data on individuals aged ≥13 years with SRS were evaluated from UK, French and...

Puberty is a critical period for the development and acceleration of vascular complications in Type 1 diabetes (T1D). We have shown that metformin in addition to insulin improves vascular smooth muscle function and HbA1c in T1D children over 12 months (1). We aimed to determine if children with T1D who received metformin in a randomized controlled trial (RCT) [Trial registration ACTRN126110001148976] have a sustained vascular function improvement 3 years after ceasing metformi...

Background: Over-dosing and under-dosing of vitamin D in children and young people appears to be common, based on our audit of current practice. The contribution of ethnicity, skin colour, and vitamin D binding protein (VDBP) genotype has not been fully explored during vitamin D treatment.Objective: To investigate how ethnicity/skin colour and genetic variation affect the response to 150 000 units of vitamin D administered to young adults of White Caucas...

Aim: To determine Sertoli cell function at diagnosis and after 3 months of chemotherapy.Methods: A prospective cohort study was performed including children with acute lymphoblastic leukaemia, acute myeloid leukaemia, or non-Hodgkin lymphoma. Serum levels of AMH were evaluated at diagnosis and after 3 months during chemotherapy. Results were analysed as standard deviation scores according to pubertal stage and expressed ...

Background: FSH stimulates ovarian follicle maturation and estradiol synthesis which is responsible for breast development. Age at pubertal onset varies substantially among healthy girls. Although more than half of the variation is heritable, only a small part has been attributed to specific genetic polymorphisms identified so far.Objective and Hypotheses: We assessed the effect on pubertal onset of three genetic polymorphisms affecting FSH action.<p...

Abnormal DNA methylation contributes to tumor progression and is emerging as a prognostic marker in several types of cancers. To investigate whether DNA methylation is associated with pediatric adrenocortical tumor (pACT) presentation and patient prognosis, we analyzed the methylation profile of 57 tumors (MethylationEPIC BeadChip Array-Illumina) and patients’ clinicopathological features and outcome. The study comprehended 40 girls and 17 boys, with median age at diagnos...

In children with XLH, excess FGF23 causes hypophosphatemia with consequent rickets, skeletal deformities, and impaired growth and mobility. We previously reported that burosumab improved phosphate homeostasis and rickets in children with XLH. Here, we report final data from this Phase 2 Study CL201 (NCT02163577).Fifty-two children with XLH (5-12 years old, Tanner ≤ 2) were randomized 1:1 to receive subcutaneous burosumab every 2 (Q2W) or 4 (Q4W) we...

Monogenic forms of diabetes have specific treatments that differ from the standard care provided for type 1 and type 2 diabetes, making the appropriate diagnosis essential. Misclassification of all diabetes types may occur and healthcare providers should be aware of this possibility. A systematic approach to subjects who are newly diagnosed with diabetes can assist classification of common forms of diabetes and identify those in whom molecular investigation would be advantageo...