ESPE Abstracts

Background: Germline mutations in SDHB gene are associated with the familial paraganglioma (PGL) syndrome that carries the highest malignant potential. Although penetrance is lower than initially described, lack of effective treatments for metastatic PGLs makes screening essential for early tumour detection, surgical removal and improved outcome. However, no consensus exists in relation to timing and mode of screening.Objective: To assess publis...

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: Due to the rarity of Paediatric Cushing’s disease (CD) there is limited data on the long-term consequences of treatment.Objective and hypotheses: We assessed recurrence, anterior pituitary function and psychiatric disorders in a group of paediatric CD patients treated in a single centre.Method: Retrospective review of 20 patients with CD, mean age 11.75 years (5.74–17.8), managed in our centre between 1986 and...

Background: Cushing’s syndrome (CS) in children remains a challenge to diagnose and exclude. Published diagnostic guidelines for CS are heavily based upon adult data. The use of 24-h urinary free cortisol (UFC) measurements in the diagnosis of adult CS may have limited use. There is little data on the utility of 24-h UFC in children.Objective and hypotheses: We hypothesised that 24-h UFC is a robust and reliable screening test in children. The study...

Background: Childhood tumours of the hypothalamic pituitary axis (HPATs) are very rare and hence any single centre experience is limited. Without evidence-based guidance, treatment is individualised on a case basis. Survival rates are high, but at the expense of significant morbidity. Centralised care or wider multi-professional consultation may improve neuroendocrine and visual outcomes.Objective and hypotheses: i) To facilitate multi-professional dialo...