ESPE Abstracts

Introduction: Sex chromosome abnormalities (SCAs) are genetic conditions characterized by deviations in the number or structure of the sex chromosomes, present in 1 in 400 newborns. Despite their clinical significance, many patients with SCAs are diagnosed late in life or remain undiagnosed, leading to delayed or inadequate medical intervention. Karyotyping, the gold standard for diagnosis, is unsuitable for population-based newborn screening, as it is time-co...

TN was seen in India aged 7 years by her GP, with concerns about tall stature and increase in belly fat. She had a family history of diabetes, high cholesterol and early deaths. Her mother has diabetes, a round face and prominent limb musculature with very little subcutaneous fat. TN was investigated by a paediatric endocrinologist in India. Tests showed high triglycerides and insulin levels at the upper level of normal for her age. She was put on a strict diet and exercise pr...

Introduction: Diagnosing growth hormone deficiency (GHD) in children is complex. Spontaneous growth hormone (GH) pulses during late night may influence the pituitary GH response to provocation tests. We evaluated refractoriness during arginine-insulin-tolerance test (AITT) when having a GH-peak during a short spontaneous nocturnal profile in children with short stature.Methods: Altogether 257 children 0-18 years were exa...

Background: Adrenal insufficiency is a severe condition, which occurs for numerous different reasons. Diseases often require a period or even a lifelong treatment of cortisone and/or mineralocorticoid. Ensuring that families of patients who suffer from adrenal insufficiency have a high level of understanding and knowledge of the disease from the outset is key to them comprehending the severity of the disease, which in turn increases the chances of good complia...

Background: Since the 1980s, growth hormone (GH) treatment has been administered to children as daily subcutaneous (SC) injections. GH-treatment is extremely costly, and requires a high level of training and education, otherwise there is a risk of a poor response to treatment by the patient. This can lead to a waste of time and money for the family. The key to good adherence and successful treatment is patient understanding of the growth/metabolic problem and ...

Medical antiretroviral treatment changed dramatically the course of the infection and life expectancy of people living with HIV (PLWH). However, age-dependent morbidity and mortality remains high, mostly due to non-HIV related conditions. Among others, cardiovascular diseases is nowadays an important cause of morbidity in PLWH. Integrase inhibitors are now part of the standard treatment scheme, because of their efficacy and tolerability. However, recent reports showed an impor...

Objectives: Bone health is affected in Type-1-Diabetis (T1D) causing higher risk of hip fractures, prolonged fracture healing and altered bone mineral density (BMD). In T1D adults BMD is found to be decreased. In this study we have measured the BMD in children and adolescents from the Copenhagen Pediatric T1D Cohort.Methods: 276 children and adolescents (131 girls) were included from the diabetes outpatient clinic at Herlev University Hospital. All patie...

Introduction: The clinical hallmark of male puberty is testicular enlargement ≥4 ml. While this initial sign largely depends on central reactivation of the hypothalamic-pituitary-gonadal (HPG) axis along with peripheral follicle-stimulating hormone (FSH) action, the attainment of voice-break, activation of sweat- and sebaceous- glands, acne as well as axillary hair development require testosterone action.Objective: To investigate the tempo...

Aim: We aimed to investigate the growth potential of pituitary microadenomas and cystic lesions < 10mm in children, and to evaluate how reproducible the measurements were on magnetic resonance imaging (MRI).Design: Retrospective observational study.Methods: 74 children were included < 18 years at first pituitary MRI, and diagnosed with a microadenoma (microadenoma producing ACTH, GH or TSH ...

Background: Adolescents with chronic disease need to develop independent self-care and learn to communicate effectively with their health care team in transition from pediatric to adult- health care systems. Older adolescents are going through many challenges related to physical and emotional development, education and career choices, family, and peer relationships. The presence of a chronic disease adds an additional burden. At this stage of development, tran...