Endocrine Abstracts

Introduction: Ghrelin is a potent orexigenic brain-gut peptide with lipogenic and diabetogenic effects, possibly mediated by GHS-R. Cannabinoids also have orexigenic and lipogenic effects. AMPK is a regulator of energy homeostasis and we have previously shown that ghrelin and cannabinoids stimulate hypothalamic AMPK activity while inhibiting it in liver and adipose tissue, suggesting that AMPK mediates both the central appetite-inducing and peripheral effects of ghrelin and ca...

A 67-year-old lady presented with hypoglycaemic coma, treated with dextrose infusion. Previously she had a 3-month history of weight gain with increasingly frequent episodes of shaking and blurred vision, particularly at night, relieved by food.A 72-hour fast was undertaken. Within 2 h, she became confused. Serum glucose was 1.1 mmol/l with serum insulin 527 pmol/l (0–60 pmol/l), proinsulin 320 pmol/l (0–7 pmol/l) and C-peptide 2991 pmol/l (174...

Clinical case: An incidental right sided pelvic mass measuring 6 cm×7 cm was found in a 35 year-old nulliparous lady during investigations for secondary infertility. This mass was hard, irregular and white in appearance and biopsy confirmed a carcinoid tumour with a low Ki 67 index of 2.7%. She had no symptoms of flushing, diarrhoea or local discomfort. Endocrine screen showed a non-secretory tumour with normal fasting gut hormones and negative urinary 5H1AAs. Other tumou...

Clinical case: A 30-year-old Eritrean presented as an emergency to the orthopaedics surgeons with radicular back pain. Following L3/L4 spinal decompression, he was noted to be classically acromegaloid and was transferred to the Endocrine Unit, where a mild bitemporal upper quadrantinopia was noted. GH was massively elevated at 1200 mU/L, IGF1>130 nmol/L, with associated corticotroph and gonadotroph insufficiencies requiring replacement. MRI showed a large pituitary adenoma...

IntroductionAdrenocortical Carcinoma (ACC) is a rare aggressive cancer which carries a poor prognosis. Adjuvant mitotane improves survival but is limited by poor response rates and resistance following tumour recurrence. Mitotane’s efficacy has been attributed to intracellular accumulation of toxic free cholesterol (FC) predominantly through inhibition of cholesterol storage through SOAT1. Yet SOAT1 specific inhibitors demonstrate inferior efficacy ...

Introduction: Pathogenic MC4R variants result in hyperphagia and early onset obesity but puberty is not usually affected. We describe an MC4R variant in a patient with Kallmann syndrome and obesity.Case: A 16 year old male with repaired Tetralogy of Fallot, anosmia, autism and anxiety, was referred with obesity and delayed puberty. Height was -1.31 SDS, BMI 30.7 kg/m2. He had a high arched palate, normal skin, normal hai...

Progesterone receptor (PgR) is critically involved in the development of the mammary gland and the uterus in response to progesterone. It is also implicated in cancer development of these organs. An in depth understanding of how it works is pivotal for developing therapeutic interventions. PgR is a member of the nuclear receptor superfamily of transcription factors with conserved domain structures. Its transcription activity is mainly mediated by the activation function 1 (AF1...

Introduction: Puberty is the process of transition from childhood to adult reproductive capability, body composition, and adult height. In males, the lack of Tanner stage progression after achieving a testicular size of at least 4 cubic cm (cc) suggests pubertal arrest. While delayed puberty could be a normal variant, arrested puberty is usually pathological, and points towards an acquired pathology rather than a congenital disorder. We describe an unusual case of arrested pub...

A male in his 40’s diagnosed with type 2 diabetes in 2011 (BMI:20.7kg/m2) was admitted with DKA (Dec 2018) after a period of poor glycaemic control on oral hypoglycaemic agents (Feb 2017: HbA1c-105mmol/mol, Nov 2018: HbA1c-115mmol/mol). There was dramatic improvement in glycaemic control after commencing him on subcutaneous insulin (April 2019: HbA1c-56mmol/mol). GAD65 antibodies were positive (24u/mL; normal<5u/mL) and a diagnosis of latent autoimmune diab...

Loss of function of succinate dehydrogenase (SDH), caused by mutations in each of the 4 subunits – SDHA/B/C and D – is associated with development of phaeochromocytomas and paragangliomas (PPGLs). The mutations lead to loss of enzymatic activity and subsequent accumulation of the oncometabolite succinate, a driver of tumourigenesis. It is well established but poorly understood why mutations in SDHB are associated with more aggressi...