Endocrine Abstracts

Background: Childhood obesity is the single most pressing public health emergency of the 21st century. The prevalence has increased at alarming rates and globally over 41 million children under 5 years of age are classified as overweight/obese. Overweight and obese children are likely to stay obese as adults and develop multi-morbidities including type 2 diabetes, cancer, non-alcoholic fatty liver disease (NAFLD) and cardiovascular disease at an earlier age. The ava...

Background & Aims: Neuroendocrine tumours (NET) are a heterogenous group of neoplasms that secrete peptides and neuroamines. For potentially malignant gastroenteropancreatic (GEP) NET, surgical resection represents the only curative option. Ten-year imaging surveillance programs using cross sectional imaging are recommended due to long time-to-recurrence following resection. We performed a retrospective chart review to evaluate radiation exposure associated with surveillan...

Background: The optimal therapy sequencing for metastatic neuroendocrine tumors (NETs) remains undefined. Recent advances in systemic therapies may have changed approaches. Better understanding in patterns of care is necessary to assess and design treatment strategies. We examined the use of factors associated with liver-directed therapy over time.Methods: We conducted a population-based study of metastatic NETs over 2000-2019. Outcomes were use of liver...

Introduction: Corticotropin-releasing factor type 1 (CRF1) receptor antagonists, such as crinecerfont, have recently been investigated for the treatment of classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD), a rare autosomal disease characterized by cortisol deficiency, elevated adrenocorticotropic hormone (ACTH), and excess androgen production. In a study of adults with 21OHD, treatment with crinecerfont for 14 days led to median ...

Background: TS, resulting from partial or complete loss of an X-chromosome, is a rare diagnosis1. In addition to its well-described phenotypic features2, a number of multi-systemic conditions may develop over the lifespan of a Turner female that require long-term surveillance which is challenging to deliver in today’s ‘specialised’ services NHS.Aim: To evaluate UHL service provision against the only guidelines for the...

Background: Congenital isolated ACTH deficiency (IAD) is a rare condition characterised by low plasma ACTH and serum cortisol with normal production of other pituitary hormones. TBX19 is a T-box pituitary restricted transcription factor important for POMC gene transcription and terminal differentiation of POMC-expressing cells. TBX19 gene mutations have been shown to cause neonatal-onset congenital IAD. To date 25 mutations in TBX19 have been described, five ...

Background and aims: Non-alcohol fatty liver disease (NAFLD) is increasingly recognised in diabetic patients with metabolic syndrome. Patients with poorly-controlled diabetes and metabolic syndrome are likely to have significant liver inflammation leading to fibrosis. NAFLD fibrosis score (NFS) is a validated non-invasive scoring system that identifies liver fibrosis in patients with NAFLD. The aim of this study is to examine the glycaemic control in patients with or without s...

Aberrant pseudoexon inclusion is rarely recognised as a cause of human disease. Here we report two novel, compound heterozygous mutations in nicotinamide nucleotide transhydrogenase (NNT), one of which activates a pseudoexon, as the cause of familial glucocorticoid deficiency in two siblings. Whole-exome sequencing identified a single novel, heterozygous variant (R71X) in both affected individuals. Follow-up cDNA analysis identified the pseudoexon inclusion (p.P998_D9...

Introduction: Craniopharyngiomas are rare, pituitary tumours which, though benign with good survival, carry high neuroendocrine morbidity. Optimum management remains controversial despite a UK consensus strategy (2005).Aim: To study disease- and treatment-related neuroendocrine, visual and cognitive outcomes in our most recent cohort, managed with individualised multidisciplinary decision making to limit hypothalamic morbidity.Pati...

Recently, rare loss-of-function mutations of melanocortin-2-receptor accessory protein 2 (MRAP2) have been associated with severe, early-onset obesity in humans. In addition, whole body deletion and targeted brain specific deletion of the Mrap2 gene resulted in severe obesity in mice. In vitro data have shown Mrap2 interaction with the melanocortin-4-receptor (MC4R) affecting receptor signalling as a consequence. However, the mechanism by which Mrap2...