Endocrine Abstracts

Background: Neuroendocrine tumors (NETs), also known as carcinoid, comprise a heterogeneous group of malignancies that arise from neuroendocrine cells throughout the body, most commonly originating from the gastrointestinal tract and lungs. Lung NETs originate from pulmonary neuroendocrine cells (PNECs) that occur as individual cells or small clusters, accounting for approximately 25% of primary lung neoplasms. Lungs NETs can be classified into four subtypes: well-differentiat...

Background: There are gaps in our understanding of the impact of conditions that affect sex development, such as DSD and CAH, on the parent and patient.Aims: The project aimed to explore whether patient reported outcomes (PRO), assessed by standardised questionnaires, could be integrated within routine paediatric endocrine clinic visits.Methods: Previous validated questionnaires were used to develop a parent Self-Report qu...

Background: Fertility preservation (FP) amongst transgender adolescents (TA) is receiving more attention as individuals are transitioning at younger ages. Parents have a key role at exploring options for their children and are usually the ones responsible for consenting to interventions. Our aim was to explore parent’s attitudes regarding their offspring parenthood goals, FP counselling and perceived barriers to successful gamete banking.Methods: Pa...

Background: The choice of hydrocortisone (HC) formulation for children with adrenal insufficiency necessitates considerations for dose accuracy, palatability, and practicality in everyday life to optimise medicine adherence and health outcomes. Recently, several diverse new formulations have become available in the UK, but no information is available on real-life patient preferences for the different formulations.Objectives: Explore patient and parent ex...

Type 1 diabetes is a significant condition affecting school aged children with an increasing incidence in the UK. The effects of a chronic condition such as diabetes on a child can be dramatic and are particularly evident within the school setting. The impact of this condition can also be seen on parents, affecting their career, income and quality of life. Hence, this audit aims to identify the difficulties encountered by children in mainstream education, the impact of school ...

Joanne has two adolescent daughters with salt wasting CAH. Her talk will focus on CAH during this stage of transition and aims to inform on three areas: direct insight from her daughters on key matters for adolescents living with CAH and what they need; the changes for parents; and reflections on the long-term impact on parents raising children with CAH - how can professionals help?...

Background: The EarLy Surveillance for Autoimmune diabetes (ELSA) study is screening 20,000 children in the UK aged 3-13 years for type 1 diabetes through measurement of islet autoantibodies. Screening aims to prevent diabetic ketoacidosis at clinical onset of disease, reducing mortality, and identifies the population who could benefit from prevention trials. The ELSA-1 study aimed to explore the perspectives of parents and stakeholders on the relative benefit...

Onset of puberty strongly depends on organizational processes taking place during the fetal and early postnatal life. Therefore, exposure to environmental pollutants such as Endocrine disrupting chemicals during critical periods of development can result in delayed/advanced puberty and long-term reproductive consequences. Human evidence of altered pubertal timing after exposure to endocrine disrupting chemicals is equivocal. However, the age distribution of pubertal signs poin...

Not another blood test !Living as a teenager with multiple endocrine neoplasia type 1.Brother and sister Joel (18 years) and Hope (14 years) Russell-Winter share their respective experiences of being diagnosed as teenagers with the rare condition multiple endocrine neoplasia type 1.They believe that the needs and experiences of teenagers are sometimes forgotten during hospital testing, consultations and treat...

Some laminopathies associate both progeria and sclerodermic components (Am J Med Genet A 2006 Hennekam, J Cell Sci 2008 Sagelius), but most sclerodermic syndromes are not associated to LMNA mutations despite the presence of nuclear envelope antibodies, mainly directed to lamin (PNAS 1983 McKeon, Eur Respir J 2011 Dib).A 15-th year old girl was referred for severely imbalanced diabetes and a voracious appetite interpreted as bi...