Endocrine Abstracts

Background: Auto-immune pancreatitis (AIP) is a rare chronic inflammatory disease, characterised by raised serum levels of IgG4, which may mimic pancreaticobiliary malignancy, and is noted to have an IgG4-positive plasma cell infiltrate on pancreatic histology. Extrahepatic manifestations in liver, kidneys, and retroperitoneum, are increasingly recognised.We present a case of extrapancreatic manifestation of AIP in the pituitary gland causing lymphocytic...

A young fit male readmitted with three weeks history of malaise, pale stool, dark urine, pruritus with recent travel to Greece. He denied alcohol, illicit drug abuse. Examination revealed jaundice.Investigation showed cholestatic liver impairment with Bilirubin: 448 μmol/l (7-35), ALT: 134 IU/l (17–63), ALP: 190 IU/l (32–91), HDL 0.34 mmol/l (>0.9). Viral Screen, autoantibody, porphyria and tumour markers were negative. CT Abdomen show...

Langerhans cell histiocytosis (histiocytosis X) is a rare, proliferative monoclonal histiocytic disease of unknown cause that can involve many systems. Intermediate forms of the disease are characterized by a chronic course of a multi-organ involvement, including skin, bone lesions, interstitial lung disease, diabetes insipidus and rarely can involve primarily the thyroid gland.A 23-year-old gentleman presented with weight gain, lethargy and headaches. I...

We report the case of a 77-year-old lady who presented to hospital with confusion, agitation and polyuria. She had type 2 diabetes mellitus but was otherwise well with no history of weight loss, nephrolithiasis or fractures. There was no relevant family history. There were no abnormal findings on examination apart from dehydration and no focal neurological signs or lymphadenopathy. Investigations revealed a serum corrected calcium level of 4.71 nmol/l (normal 2.1–2.6). He...

CHARGE syndrome describes a pattern of birth defects which occurs in about one in every 9–10 000 births worldwide. It consists of a combination of congenital malformations: coloboma, heart defect, choanal atresia, delayed development, genital hypoplasia, ear abnormalities, and/or hearing loss defect. Casual mutations involve the chromodomain helicase DNA-binding protein-7 (CHD7). Gene locus 8q12.1, 7q21.1. The phenotype can also be caused by mutation in the semapho...

Introduction: Lymphocytic hypophysitis is a rare inflammatory disease of the pituitary gland. The aetiology is unknown though probably of autoimmune origin. This condition usually occurs in women during pregnancy or in the post partum period. Recurrent disease in pregnancy is rare.Case report: We present a 35-year-old patient of African origin who initially presented in 2004 at 12 weeks gestation with headaches, a third nerve palsy but no visual f...

Nelson’s syndrome is a recognised complication of bilateral adrenalectomy for Cushing’s disease. The treatment of this condition can be extremely difficult. We report a case who failed to respond to traditional treatments, was given a novel chemotherapeutic agent temozolomide.A 50 years old lady was diagnosed with pituitary dependent Cushing’s disease in 1998. She underwent transphenoidal hypophysectomy (TSS) twice, followed by conventiona...

Brown tumour is a fibrous tissue mass containing hemosiderin-pigmented macrophages/ multinucleated giant cells, replacing/expanding part of bone in primary hyperparathyroidism. We present a case with brown tumour who was treated as simple bone cyst.A 22-year-old lady presented to rheumatology with pain in arms and legs. Investigations revealed severe vitamin D/B12/folate/iron deficiency with positive IgA. Gliadin antibodies and duodenal biopsy confirmed ...

Introduction: We evaluated Twin Precision Treatment (TPT) approach, a cluster of Internet of Things (IoT) and Artificial Intelligence (AI), validated biosensors and Continuous Glucose Monitoring (CGM) through Ambulatory Glucose Profile (AGP) integrated with machine learning algorithms, enabling physicians to empower patients to reverse diabetes.Methods: 64 T2DM (19 males, 45 female), registered on Twin Health TM service, managed by standard care of appro...

Introduction: Fructose-1,6-bisphosphatase (FBPase) deficiency is an autosomal recessive disorder causing failure of gluconeogenesis. Multiple mutations may produce the disease, of which 960/961insG is the commonest and is pan-ethnic. Hypoglycaemia, ketosis and lactic acidosis associated with the condition are triggered by infection, fasting or fructose/sucrose/sorbitol intake.Aim: To present an atypical case of FBPase deficiency and to demonstrate findin...