ESPE Abstracts

Introduction: Familial hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disease characterized by very low serum magnesium levels. It is caused by mutations in the gene encoding the transient receptor potential melastatin 6 (TRPM6). It typically occurs in the first months of life with symptoms of increased neuromuscular excitability such as convulsions, muscle spasms and tetany. Prolonged untreated hypomagnesemia may lead to developmenta...

Background: Despite having a significant impact on patient care and treatment success, nurses’ roles and responsibilities in growth disorder (GD) treatment varies substantially between countries and should be optimised.Objective and hypotheses: To understand the critical role nurses play in patient clinical outcomes and how they can improve the patient management pathway.Methods: Nurses involved in the care of patients with GD...

This presentation provides an overview of genetics relevant to pediatric endocrine nursing practice. A brief genetic primer for nurses will be given followed by discussion of patient and clinician barriers to genetic literacy. Genetic competencies for nursing practice will be reviewed and application will be demonstrated through several pediatric endocrinecase presentations. At completion, participants will be able to incorporate concepts of genetic literacy and apply genetic ...

Objective and hypotheses: The work was initiated to assess basic level of knowledge on essential concepts of type I diabetes mellitus among nurses employed at regional dispensaries of Uzbekistan.Method: We tested 194 nurses employed at the endocrinologist’s offices and regional endocrinological dispensaries to assess level of knowledge on essential concepts of type I diabetes mellitus by means of a 20-question test made up under a 5-day training pro...

Background: Increasing referrals for transgender youth demonstrated a lack of local interprofessional comprehensive programs for transgender youth. Pediatric endocrine clinics across Canada have collaborated with other disciplines to provide increasingly comprehensive assessment and treatment programs for transgender youth.Objective and hypotheses: Share a case study of a Canadian youth’s experience with the Gender Dysphoria Assessment and Action fo...

Sex differentiation and development are complex processes reflecting the precise spatiotemporal expression of specific genes and interactions among gene products. In some instances, peripheral blood karyotype diverges from anticipated findings based on phenotypic features. Ascertaining for chromosomal mosaicism aids the shared decision-making discussions with families and other health care providers. We have investigated for sex chromosome mosaicism in 13 patients by using flu...

Background: Type1 diabetes mellitus is increasing worldwide in childhood. Education is an essential part of the package care at diagnosis. It adresses children with newly diagnosed type 1 diabetes and their families and is made by young doctors and paramedical staff (nurses and nutritionnists).Objective: to assess the knowledge of the medical and paramedical staff concerning the global management of type 1 diabetes in ch...

Objective: The aim of this study was to evaluate demographic characteristics; clinical, laboratory, imaging features; and response to treatment of boys who were followed up and treated with the diagnosis of central precocious puberty (CPP) in Turkiye.Materials and Methods: The study was planned as a multicenter, retrospective study. Cases with a diagnosis of CPP, whose follow-up data were available were included. Patient...

Background: Aetiologic causes should be evaluated in patients with central diabetes insipidus. Inflammatory and malign diseases must be exclude.Objective and hypotheses: A 9-year-old girl suffered from polyuria and polydipsia was diagnosed CDI. Adenohypohysis height and infudibulum thickness were increased 8 and 9 mm respectively. Physical findings were consistent with Tanner stage 1, height SDS −0.48, and BMI 91 percentile. Tumor markers and adeno...

Background: Pediatric Endocrine Nurses are experts in caring for children with Endocrine conditions. Many nurses do not have the confidence, knowledge and technical skill set to produce poster presentations that allow them to share this expertise.Objective and hypotheses: This session will give Pediatric Endocrine Nurses an opportunity to hear how a poster presentation can be developed, from an idea to the final product. Nurses will feel empowered to tak...