ESPE Abstracts

Introduction: Genetic variants in the melanocortin-4 receptor (MC4R) pathway can lead to hyperphagia and early-onset obesity. Increasing awareness of genetic testing may aid in the diagnosis and identification of patients who could benefit from novel precision therapies. To enhance access to genetic testing for patients with suspected rare MC4R pathway diseases, the Rare Obesity Advanced Diagnosis ™ (ROAD) genetic testing program was established...

Background: Turner syndrome (TS) affects 1:2,500 females and results from complete or partial loss of one of the X chromosomes. Typical traits associated with TS include short stature, primary ovarian insufficiency (POI), autoimmune diseases, and cardiovascular and endocrine disorders. Long-term follow-up is needed from the time of presentation into adult life. Several genetic mechanisms have been proposed to account for the development of TS-associated featur...

Background: Prader-Willi syndrome (PWS) is a rare genetic neurobehavioral-metabolic disorder characterized by hyperphagia and behavioral/psychological complications. With no approved therapies to treat hyperphagia, disease management requires strict dietary and environmental controls to restrict access to food. DCCR is an oral, once-daily medication currently under development for the treatment of PWS.Objective: The obje...

Background: Prader-Willi syndrome (PWS) is a rare genetic neurobehavioral-metabolic disorder characterized by hyperphagia and behavioral/psychological complications. No approved therapies exist for treating hyperphagia in patients with PWS. DCCR is an oral, once-daily medication currently under development for the treatment of PWS.Objective: The objective was to determine the efficacy of investigational DCCR on hyperphag...

Introduction: Type 1 diabetes mellitus (T1DM) is a common endocrine disorder among children and adolescents worldwide. Reports indicate a rising trend of T1DM in the past decades. However, data on T1DM in Sub-Saharan Africa, particularly Kenya, is limited. It is estimated that 127,000 children live with T1DM in Kenya, but only 5,000 are on treatment. This project aims to improve early diagnosis and appropriate management of T1DM in children and adolescents thr...

Background: Hypothyroidism is an endocrine condition that occurs when the thyroid gland doesn’t make enough thyroid hormone. This condition affects approximately 5% of the general population with an additional estimated 5% being undiagnosed. Clinical presentation may be atypical with subsequent misdiagnosis in the absence of relevant specialists. Pediatric endocrinologists are just five in the Kenyan county hospitals, two of whom were funded by the Kenya...

Background: In recent years, the number of consultations of transgender children and adolescents has gradually increased. In our region, this group receives care from a specialized multidisciplinary team, formed in 2015. It is basically composed of a psychosexologist, two adult endocrinologist, a pediatric endocrinologist, among other specialists.Objective: To describe the characteristics of the children and adolescents ...

Background: Counselling adolescents with chronic diseases can be challenging when it comes to appropriate interview techniques and the doctor's attitude towards the patient. Successful communication can be a key element of treatment. Motivational interviewing (MI) is widely applicable in the management of behavioural problems and illnesses, as it increases patients' motivation for lifestyle changes. This plays a particularly important role in the tre...

Objective: The primary aimof this study was to determine the normal values of thyroid gland size measured by ultrasonography (US) in healthy term newborn infants. The secondary objective was to compare the measurements made with handheld and standard US devices.Materials and Methods: Healthy newborn infants aged 0-30 days were included in the study. Thyroid size was measured twice: first between days 1-2 and again betwee...

Aim: Serum IGF-1 is widely advocated as a tool for monitoring adherence, safety and effectiveness of recombinant human growth hormone (rhGH). However, there is a need to understand the real-world variations in IGF-1 levels in children on rhGH and the management of abnormal IGF-1 levels in routine clinical practice.Method: Centres participating in the Global Registry for Novel Therapies in Rare Bone and Endocrine Conditio...