Endocrine Abstracts

Introduction: We report the complexities in the management of two patients with functioning adrenocortical tumours (ACTs), presenting with features of androgen and cortisol excess, secondary to TP53 variants. Case report: Patient 1 presented with androgen excess (P1, TVs 2mls, penis 10 cm) aged 18 months. He was a known carrier of a maternally inherited TP53 variant. Adrenal androgens were elevated, with a DHEAS level of 86 umol/l (0.0-...

Introduction: We present two cases of Carney and Carney-like Complex due to genetic aberrations with the cAMP/PKA pathway presenting with ACTH-independent Cushing Syndrome (CS) and extra-adrenal features.Case report: Case 1 was referred aged 4 years with a 15 month history of cyclical CS (periodic weight gain, facial roundness, hirsutism). Neuroimaging did not identify a pituitary abnormality. Biochemistry confirmed ACTH-independent hypercortisolism, wit...

Introduction: The Tier 3 paediatric weight management service at University Hospital Southampton comprises a Paediatric Endocrine Consultant, a Clinical Nurse Specialist and Specialist Dieticians. Children may be referred if they have an endocrinopathy, metabolic co-morbidity or obesity syndrome. We offer at least two years of engagement within the service prior to discharge.Service Evaluation: Twenty-six Tier 3 patients were under follow-up between 1<su...

Introduction: Familial Hypercholesterolaemia (FH) is an autosomal dominant inherited disorder of lipid metabolism. Affected children have elevated cholesterol from birth with accelerated atherosclerosis and significant cardiovascular disease (CVD) from the third decade. 1 in 250 people are affected and early treatment can eliminate the risk of premature CVD. Genetic testing guidance was published in August 2008 and a CVD outcomes strategy was produced in 2013. From 2014 the Br...

Background: Prader Willi Syndrome (PWS) is a disorder of genetic imprinting caused by uniparental disomy of chromosome 15. It can present in the neonatal period with dysmorphic features, hypotonia and feeding difficulties. In the UK, recombinant human Growth Hormone (rhGH) is licensed for use in PWS, improving body composition and motor development, as well as final adult height. Some studies have also demonstrated an improvement in respiratory function in children with PWS. T...