Endocrine Abstracts

Introduction: Diamond Blackfan anaemia (DBA) is a rare disorder of red blood cell aplasia characterized by normocytic or macrocytic anaemia and reticulocytopaenia. Short stature, of multifactorial aetiology, is often present. Some patients are glucocorticoid-responsive, while others remain transfusion-dependent leading to iron overload.Case Report: Asymmetrical growth restriction was present at birth. Aged ten weeks, severe anaemia developed. Bone marrow...

Spindle Cell Oncocytoma (SCO) is a neoplasm of the adenohypophysis, often pre-operatively misdiagnosed as pituitary macroadenoma due to its rarity. First described in 2002, 28 cases have been described. It is a benign tumour manifesting in adults with no sex predilection, classified as WHO Grade I. A 71-year-old woman presented with bitemporal hemianopia, secondary hypoadrenalism, hypothyroidism and hypogonadotrophic hypogonadism. Imaging in October 2017 confirmed a 18.0×...

Insulinoma is a rare tumour, but is the commonest cause of hyperinsulinaemic hypoglycaemia in adults. It is characterised by symptomatic hypoglycaemia with inappropriately elevated plasma insulin and C-peptide levels. 10% of insulinomas are malignant. The coexistence of insulinoma with diabetes mellitus is extremely rare with only 20 previously reported cases. This can therefore pose a diagnostic challenge.An 83 year old man, who developed Type 2 diabete...

Familial isolated pituitary adenoma (FIPA) is an increasingly recognised cause of familial pituitary tumours with autosomal dominant inheritance. An increased population risk of AIP mutations has recently been reported in Ireland. We present the cases of three siblings, with likely AIP related disease, attending endocrinology clinics in Glasgow. Patient one has been confirmed to be an AIP mutation carrier.Patient 1 ...

Familial isolated pituitary adenoma (FIPA) is an increasingly recognised cause of familial pituitary tumours with autosomal dominant inheritance. An increased population risk of AIP mutations has recently been reported in Ireland. We present the cases of three siblings, with likely AIP related disease, attending endocrinology clinics in Glasgow. Patient one has been confirmed to be an AIP mutation carrier.Patient 1 ...

Intracellular cortisol is regulated by 11βHSD1. Although the field has focused on regeneration of cortisol from inert cortisone by 11β-reductase activity of 11βHSD1, we have used stable isotope tracers and arteriovenous sampling to quantify simultaneous dehydrogenase (cortisone generation) and reductase (cortisol regeneration) in human adipose and skeletal muscle. In vitro studies suggest insulin regulates this balance of reductase vs dehydrogenase acti...

A 68-year-old gentleman with hypertension and diet-controlled type 2 diabetes presented in September 2015 with weight loss, fatigue, low libido and cold intolerance.Blood results demonstrated secondary hypothyroidism (TSH 0.59 mU/l (reference 0.35–5.00), free T4 8.3 pmol/l (ref 9.0–21.0)), hypogonadotrophic hypogonadism (testosterone 1.0 nmol/l (ref 10.0–36.0), FSH 1.5, LH 1.1) and a modestly elevated prolactin (795 mU/l (ref <400)). S...

Hypoglycaemia is a common and potentially life threatening presentation to Emergency Departments across the UK.It is often a result of medications for treatment of diabetes but other differentials include rarer reactive and fasting causes.This case report describes a 69 year old man who initially presented with right upper quadrant pain and weight loss which then lead to a diagnosis of inoperable hepatic sarcoma. He later presented with hypoglycaemia and Whipples triad in the ...