ESPE Abstracts

Background: Whilst multi-disciplinary intervention models for children and adolescents with obesity remain recommended best practice, there is a lack of long-term outcome data, especially in home-based models and programs embedded within the clinical setting. Whānau Pakari is a community-based multi-disciplinary assessment/intervention programme for child obesity, focused on reducing health inequity. Based in Taranaki, Aotearoa/New Zealand, it focusses on...

Background: The female gonadal axis is activated in mini-puberty and thereafter it is quiescent until puberty. We have shown that many girls with no clinical sign of puberty in the age group 1-6 yr. have a rather strong luteinizing hormone (LH) and follicle stimulating hormone (FSH) response to a gonadotropin releasing hormone (GnRH) test. However, stimulated LH and FSH values decreased in the age interval 1-6 yr and no LH/FSH values rose above 0.43. Serum est...

Stress is increasingly associated with cardiac disease. Glucocorticoids are primary stress hormones that regulate homeostasis through two nuclear receptors, the glucocorticoid receptor (GR) and mineralocorticoid receptor (MR). Cardiomyocytes express both receptors but little is known concerning their specific and coordinated actions in heart physiology and pathology. To examine the in vivo function of glucocorticoid signaling in the heart, we generated mice with cardi...

Congenital hypothyroidism from thyroid dysgenesis (CHTD) is mainly a sporadic and non-syndromic condition occurring in 1:4,500 live births. In contrast to rare cases of syndromic monogenic CHTD, non-syndromic (NS) CHTD shows low familial recurrence risk (~2%) and low concordance rate between MZ twins, suggesting a two-hit scenario combining post-zygotic events with either a de novo monogenic mutation or incomplete penetrance of polygenic inherited variants,. As this l...

Background: The peptides obestatin and adropin are thought to regulate glucose and lipid metabolism, weight gain, and fluid intake in adults. The roles of obestatin and adropin in the regulation of weight and glucose and lipid metabolism in Prader-Willi syndrome (PWS) and non-syndromic pediatric obesity are poorly understood. This study compares the concentrations of obestatin and adropin in infants and children with PWS and age- and BMI-z matched controls, and explores the as...

Background: The Low dose dexamethasone suppression test (LDDST) is an important investigation for suspected Cushing’s Syndrome (CS). The traditional definition of normal suppression of serum cortisol to ≤50 nmol/l during the LDDST (0.5 mg 6 hrly × 48 h) comes from a time when biochemical autoanalysers did not routinely detect very low values. Previous studies reported 5.1–8.3% of patients with Cushing’s Disease (CD) suppressed to <50 nmol/l at 48 ...

Background: Maternal overweight/obesity during pregnancy and excessive gestational weight gain (GWtG) have been recognized as important early-life risk factors for childhood obesity. We aimed to examine whether maternal BMI at 20 weeks of gestation and excessive GWtG were associated with alterations in body composition and metabolism in childhood in the offspring of primiparous mothers who participated in a randomised controlled trial of exercise regimen during pregnancy.<...

Objective: Congenital Hyperinsulinism (CHI) is a clinically, genetically and histologically heterogenous diesease. In recent years substantial developements have been observed in the genetics, imaging techniques and treatment options. We herein present the clinical characteristics, genetics and follow-up of 31 CHI patients from a single paediatric endocrine center with a particular emphasis on the new treatment options.Patients and method: Clinical chara...

Background and Aims: Turner Syndrome (TS), 45X0, is the most common chromosomal pathology affecting females, occurring in 1:2500 to 1:5000 female infants. The typical phenotype includes short stature, gonadal dysgenesis leading to sexual infantilism, low-set ears, low rear hairlin, mamary hypertelorism, neck webbing, gothic palate, irregular rotation of the elbows, shield chest, shortening of the 4th metacarpal, low hairline, shortening of lower extremities, renal disorders a...

Background: Obesity is a persistent disorder that almost universally recurs following treatment, suggesting a disruption on central nervous system control over energy homeostasis. Recent literature suggests that hypothalamic inflammation may have an important role on obesity pathogenesis. This inflammatory reaction, which histologically appears as a reactive gliosis, may be detected using magnetic resonance imaging (MRI), and has just been shown in rodent models and adults.</p...