Endocrine Abstracts

A 40-year-old female presented with lethargy, poor mobility and blurred vision for 2 weeks and 6 months of amenorrhoea. On examination she was markedly Cushingoid with proximal myopathy and normal visual fields. She was hypertensive, with peripheral oedema and leg ulcers. Bloods revealed leucocytosis, hyperglycemia, and ketonuria. She was commenced on insulin. CXR was clear.Endocrine review diagnosed Cushings syndrome. Cortisol did not suppress overnight...

A 26-year-old man with known CAH (21-hydroxylase deficiency) presented with infertility. Investigations revealed azoospermia and USS showed bilateral grossly abnormal testes replaced to a large extent by multiple mixed echogenic, ill defined nodules with flecks of calcification. Clinically, given the bilateral lesions and his poorly controlled CAH, the testicular lesions were felt to be ACTH-dependent testicular adrenal rest tumours (TART). Owing to overproduction of adrenal a...

A 17 year old woman attended the Emergency Department following an episode of chest pain and pre-syncope, coinciding with high blood pressure readings taken at home. Her blood pressure was recorded as 170/101 with no signs of end organ damage on clinical examination. She had no clinical features of Cushing’s disease or Neurofibromatosis and her BMI was 22.4. She had been seen at a Cardiology clinic 18 months previously for hypertension and chest pains. A 24 hour blood pre...

Aim: IFNα is a key regulator of the initial dialogue between pancreatic β-cells and the immune system in type 1 diabetes (T1D). IFNα induces endoplasmic reticulum (ER) stress, insulitis and a massive HLA-ABC overexpression in human β-cells, three histological hallmarks of T1D. Against this background we investigated the global role of IFNα on iPSC-derived islet-like cells, used here to mimic islet cells in the early neonatal period when autoimmunity ag...

Context: Anti-programmed cell death-1 (Anti-PD-1) antibodies have revolutionized advanced cancer therapy. Anti-PD1 therapy is responsible for immune-related adverse events, with frequent endocrine manifestations. Acquired generalized lipodystrophy (AGL), is a rare disease, thought to be immune-mediated, characterized by loss of adipose tissue and insulin resistance-associated complications. We describe the first case of AGL induced by immune checkpoint therapy.<p class="ab...

Introduction: Primary bilateral macronodular adrenal hyperplasia (PBMAH) are adrenocortical tumors leading to adrenal Cushing’s syndrome. Recently, our laboratory has identified the first gene predisposing frequently to PBMAH in adults, named ARMC5 (Armadillo Repeat Containing 5)1. The ARMC5-inactivating mutations identified in leucocyte and tumour DNA in PBMAH patients suggest that ARMC5 is a tumour suppressor gene. However, the mechanisms of action of ARMC5 remain unkno...

Introduction: Copeptin is the C-terminal fragment of proAVP and secreted in equimolar amounts with AVP. While AVP is unstable in vitro and has proved difficult to measure in clinical practice, copeptin is relatively stable and can be measured using an automated immunoassay. Therefore copeptin measurement offers potential as a more practical alternative to the direct measurement of AVP in the investigation of polyuria/polydipsia.Methods: AVP, cop...

Polycystic ovary syndrome (PCOS) affects 5–10% of reproductive-aged women and is associated with hyperandrogenism and chronic anovulation. Leukocytes, together with granulosa cells, may contribute to the pathogenesis of PCOS via their ability to secrete an array of cytokines implicated in follicle growth.Aim: Using RT-PCR, we screened for the expression of a range of cytokines in ovarian biopsies obtained from PCOS patients and normal individuals to...

GD following ART occurs rarely, in 3% of HIV-infected women1. It is suggested that CD4 cells increase in a biphasic pattern following ART initiation, with the expansion of naïve CD4 cells following months after the initial redistribution of memory CD4 cells from lymphoid tissue2. A 40-year-old Brazilian lady was diagnosed with HIV in late 2016 following admission with cryptococcal meningitis and salmonellosis, requiring treatment with anti-fungal age...

Aim: To investigate the association between country incidence of type one diabetes (T1DM) and mortality from infectious disease as well as to antibiotic susceptibilityMaterials and methods: An ecological study correlating data from the WHO DiaMond Project for the incidence of T1DM, the WHO estimates of mortality (2004) from communicable diseases and the Alexander Project for bacterial susceptibility to antimicrobial agents.Results:...