ESPE Abstracts

Objective: Congenital Adrenal Hyperplasia (CAH) requires life-long replacement of cortisol. However, this long-term GC-treatment could change the developmental trajectory of the brain and predispose patients to problems with cognition and mood regulation. Previously, we have found impairments in working memory in patients with CAH, as well as alterations in brain structure in regions of the central executive network (CEN). These changes could be associated wit...

Objective: Oral hydrocortisone medication for Congenital Adrenal Hyperplasia (CAH) could lead to suboptimal blood cortisol levels throughout the day. In addition, the HPA-axis is rendered inflexible in patients. Cortisol is crucially involved in the stress response as well as in generating and regulating emotional responses to stimuli. Sub-optimal cortisol levels, in combination with a less flexible HPA-axis, could therefore lead to problems with emotion regul...

Background: The incidence of Graves’ disease in patients aged <15 years is estimated at 0.9 per 100,000. Parental anxiety around definitive treatment, timing of this around schooling and clinician confidence in long-term medical treatment often results in prolonged medical management. This audit aimed to assess the rates of remission, timing of definitive treatment and long-term medical management in children managed for Graves’ at a UK tertiary...

Background: Hypopituitarism in children is a complex condition and its hierarchical evolution at different developmental windows is unpredictable. Magnetic resonance imaging (MRI) is helpful but largely a subjective assessment of anomalies of the hypothalamo-pituitary (H-P) structures. We aimed to test the utility of a quantitative measure of pituitary and stalk in predicting neuroendocrine phenotypes.Patients and Methods:</stron...

Type 1 diabetes (T1D) hits about 1:300 with rising incidence affecting increasingly younger children. Population screening at ages 2-6yrs with T1D associated autoantibodies (T1Ab) has been recently proven sensitive. While potential treatments to prevent or delay T1D are currently in development, a population based cost-effective preventive strategy is still lacking. Hence, 2000IU cholecalciferol daily in a large birth cohort study published in 2001 reduced by 80% the risk of T...

Background: Hypothalamic dysfunction (HD) is life-threatening but precise diagnostic tools are lacking. Normal hypothalamic anatomy is difficult to delineate on MRI. Damage to the area is inferred from a visible lesion, but how widely it disturbs signalling connections or correlates with symptoms is unclear. Furthermore, in congenital/syndromic diseases the hypothalamus appears normal even in cases with clear HD. We aimed to develop novel clinical and radiolog...

Background and aim: Phenotypes of Hypothalamo-Pituitary (H-P) dysfunction are heterogenous and unpredictable. Through novel neuroimaging segmentation, we quantified anatomical alterations of each discrete component (hypothalamus, stalk, and pituitary) to better elucidate the origin and phenotype of different congenital and acquired HP disorders.Methods: We compared 66 patients (35M/31F) aged 12.4 &pm; 3.1 years, followed...

Background: Hypothalamo-posterior-pituitary (HPP) disorders are complex, life-threatening, and often of uncertain pathogenesis. Oxytocin and AVP/copeptin share production and storage sites, but they are difficult to measure in biological fluids. Correlation with HPP neuroimaging abnormalities has not been previously determined.Aim: To correlate unstimulated plasma copeptin/oxytocin with hypothalamic volumes/PP location i...

Background: Rabson-Mendenhall Syndrome (RMS) is a rare, autosomal recessive disorder characterized by hormonal and clinical features of insulin resistance (acanthosis nigricans, hirsutism, etc.) Other clinical features may include lipodystrophy and metabolic syndrome (hypertension, non-alcoholic fatty liver disease (NAFLD), hypertriglyceridemia and polycystic ovary syndrome). Biallelic loss of function mutations in the insulin receptor gene (INSR) affect insul...

Background: SGPL1 deficiency is associated with a pathological accumulation of sphingolipid intermediates and a multi-systemic condition incorporating primary adrenal insufficiency. Sphingolipid intermediates such as ceramide, sphingosine and sphingosine 1-phosphate are postulated to act as modulators of the steroidogenic pathway, often acting as second messengers altering downstream expression of steroid responsive transcriptional elements. Ceramide and sphin...