ESPE Abstracts

Background: Pubertal gynaecomastia is thought to be a clinical sign of an oestrogen-androgen imbalance, affecting up to 60% of boys. In most cases no underlying endocrinopathy can be identified. In boys, Anti-müllerian hormone (AMH) is produced by immature Sertoli cells and circulating level decreases as testosterone increases during pubertal maturation. In a previous cross sectional study we found significant lower levels of AMH in boys with pubertal gynaecomastia (Mieri...

Background: Pseudohypoparathyroidism (PHP) is a rare group of disorders characterised by end-organ resistance to parathyroid hormone (PTH), and possibly TSH, with or without features of Albright’s hereditary osteodystrophy.Case presentation: A 14-year-old boy presented with fatigue and spontaneous carpal spasms in association with a febrile viral infection. Past medical history was significant for an episode of asymptomatic hypocalcemia treated with...

Objective: The aim of the study was to describe the etiologic diagnosis, clinical characteristics in children with 46,XY disorder of sexual development (DSD).Methods: The 125 46, XY patients were included the retrospective study. The definitive diagnosis was made by presentations and clinical findings, gonadal morphology and genital anatomy of patients, basal and stimulated hormone results, imaging methods and molecular ...

Introduction: Differential diagnosis of thyroid hormone resistance (beta) and TSHoma should be made in patients with high free thyroxine (f-T4) and free triiodothyronine (f-T3) and non-suppressed thyroid stimulating hormone (TSH) levels. The aim of this study was to present the results of etiological research in a patient with Down syndrome who was clinically euthyroid and had high levels of f-T4, f-T3, normal TSH levels.Case</st...

Background: VRS-317, a novel fusion protein of rhGH, was safe and well tolerated in single dose studies of adults and children with growth harmone deficiency (GHD).Objectives: Conduct a 6-month study to determine the safety, tolerability, height velocity and IGF1 response in GHD children.Methods: 64 subjects were randomized into three arms to evaluate monthly, semi-monthly and weekly dosing.Results: At VRS-31...

Introduction: The hypothalamic melanocortin-4 receptor (MC4R) pathway plays a vital role in energy balance. Genetic defects in the MC4R pathway may result in severe early onset obesity.Objective: The TEMPO registry (NCT03479437) aims to identify and enroll approximately 1000 participants with rare genetic forms of obesity that are potentially related to key genes, upstream or downstream, of the MC4R. In addition, the TEMPO registry will evaluate the burd...

Background: Between 2011 and 2015, 294 children from 15 UK centres were randomised to the SCIPI study (SubCutaneous Insulin: Pumps or Injections?), which compares insulin delivery by pump to multiple daily injections, during the first year following diagnosis of type I diabetes. HbA1c is measured every 3 months, locally by (1) a ‘point of care’ device or a local laboratory and (2) a central laboratory. Since 2009 HbA1c assays have been calibrated against the Internat...

Background: Adults have a weight that is normal for them. This is referred to as their ‘set-point’ for weight. Studies have shown physiological protection of this set-point, explaining why most obese adults who diet eventually regain weight.Objective and hypotheses: We hypothesised that set-points for weight, and their physiological defence, are flexible in childhood but become fixed sometime around puberty. We aimed to show that obese children...

Background: Emerging evidence suggests FTO polymorphisms are associated with obesity-related comorbidities including type 2 diabetes (T2DM), hypertension and polycystic ovarian syndrome (PCOS). However association of FTO with other comorbidities such as obstructive sleep apnoea (OSA) in paediatric populations is less clear.Objective and hypotheses: To investigate the prevalence of obesity-related comorbidities according to FTO genotype in an obese paedia...

Introduction: Congenital Hyperinsulinism (CHI) is a rare disease of hypoglycaemia due to excess insulin production. Patients with both focal and diffuse forms of CHI may have severe hypoglycaemia not responsive to medical therapies. Such patients require lesionectomy or subtotal pancreatectomy with a corresponding necessity for enhanced glycaemic monitoring during the peri-operative period. Subcutaneous Continuous Glucose Monitoring (CGM) provides real-time hi...