Endocrine Abstracts

Stem cell transplants are used to treat and cure many types of haematological malignancies as well as rare solid-organ tumours. The conditioning regimes, medications and potential graft vs host disease can have effects on many organ systems in the body. The Endocrinology Department has designed a follow-up service over the past 3 years for patients in remission due to increasing awareness of the potential endocrinological and metabolic effects of allogenic stem cell transplant...

MODY as a result of a genetic variant in the HNF1-α gene is traditionally treated with sulphonylureas, often with eventual progression to insulin use due to the loss of beta cell function. We present the case of a 58-year-old female who attended the diabetes service for many years for a genetically confirmed diagnosis of HNF1-α MODY. She was originally diagnosed with pre-diabetes at the age of 16 and eventually commenced on oral hypoglycaemic agents (OHAs) at the age...

Background: Maternally inherited diabetes and deafness (MIDD) is a rare disease affecting approximately 1% of all diabetics. The most common mutation involved is a single base mutation (A-G) at position 3243 within the tRNALEU(UUR) gene. The clinical characteristics normally associated with this disease include sensorineural hearing loss, macular pattern dystrophy, cardiomyopathy, and diabetes. This study aims to identify clinical phenotype and insulin secretory res...

Paraganglioma is a rare neuroendocrine tumour. There are few case reports in the literature describing vaginal paraganglioma to date. We present the case of a 37-year-old female referred to endocrinology services with symptomatic hypertension, initially noted during her first pregnancy three years prior. This was on a background of a vaginal paraganglioma diagnosed in 2006 which was excised by gynaecology services without complication. Her first pregnancy in 2021 was notable f...

Background: HNF1β mutations are one of the commonly identified genetic causes of renal malformations, but one of the less common forms of MODY. HNF1β is involved in the development of kidneys, liver, pancreas, intestine and urogenital tract. Patients can present with distinctive but highly variable clinical features. The aim of this study is to evaluate the clinical, biochemical and radiological variability of HNF1β variants and the challenge of management on th...