Endocrine Abstracts

Gaucher disease (GD) is a rare, genetic, autosomal recessive lysosomal storage disease with multi-system manifestations caused by a deficiency of the lysosomal enzyme glucocerebrosidase, which leads to an accumulation of its substrate glucosylceramide (glucocerebroside) in macrophages of various tissues with an inflammatory response and a release of cytokines. In general population its incidence is approximately 1/40 000 to 1/60 000, rising to 1/800 in Ashkenazi Jews. Clinical...

Cellular replacement therapy has already shown clinical efficacy in human patients with Parkinson's' and Huntington's diseases. However, this currently relies on a continuous supply of tissue from early first trimester human foetuses and therefore it will be difficult to translate into a widespread therapy. Neural stem cells are self-renewing cells found in both the developing and adult nervous system that can be expanded ex vivo in defined medium and differentiated into all t...

Mouse embryonic stem (ES) cells are pluripotent cells derived from preimplantation embryo. In culture these cells can differentiate into a broad variety of cell types, such as nerve, muscle heart, blood cells and islet cells. This capacity for multilineage differentiation is retained during genetic manipulation and in vitro propagation. This has stimulated interest in the isolation of analogous cells of human origin. Such human pluripotent cells would constitute a renewable so...

Hyponatraemia is the most commonly encountered electrolyte disturbance seen in 15-20% of inpatients. Regardless of severity, hyponatraemia is associated with increased length of stay, morbidity and mortality. We describe a case of a 60-year-old patient admitted with recurrent falls, head injury and hyponatraemia on a background of young-onset Parkinson’s disease with predominant cognitive decline, bladder disturbances and autonomic failure. Following multiple treatments f...

Case report: A 55 years old Caucasian gentleman presented with recurrent episodes of unexplained hypoglycaemia with slurred speech, lethargy, myoclonic jerks and seizures. He had background of craniopharyngioma at the age of 17 and underwent surgery but no radiotherapy. Subsequently he was started on hormonal replacement with desmopressin, levothyroxine, hydrocortisone, testosterone and genotrophin and remained stable on treatment for 38 years. Hypoglycaemia work up revealed b...

Background: Dopamine agonists (DA) remain the first-line medical therapy for prolactinomas and idiopathic hyperprolactinemia in Endocrinology. DA can also be efficacious in a selected group of patients with acromegaly. There is increasing awareness, among endocrinologists, of Impulse Control Disorders (ICDs) as possible adverse effects of DA therapy.Case reports: We describe ICDs in four patients (two diagnosed with prolactinoma and two diagnosed with ac...

Introduction: Neurodegeneration is one of the most common condition accompanied Diabetes Mellitus, Parkinson’s and Alzheimer’s diseases. Although its mechanisms intensively studied for many years, some questions of pathogenesis remain unclear. The aim of the study was investigate the effects of thyroid hormones and some neurotransmitters on the cerebral cortex of rats with experimental neurodegeneration. Materials and methods: Series of experim...

Background: Cabergoline-associated valvulopathy (CAV) is an established complication of cabergoline therapy in Parkinson’s disease, with a definitive echocardiographic triad of severe regurgitation, leaflet thickening, and restricted valve movement without calcification. Long-term cabergoline therapy is deemed safe for prolactinoma due to low dosage. We describe the first UK case report of aortic regurgitation (AR) associated with low-dose cabergoline in prolactinoma....

66 year old patient was diagnosed with macroprolactinoma and started on treatment with Cabergoline at a dose 250 μg twice weekly. Initial echocardiogram was normal and CT chest showed clear lung fields except mild left upper zone consolidation. During a routine follow up appointment 8 months after the initiation of treatment, the blood tests showed abnormal renal function and prolactin level was controlled. CT KUB showed features suggestive of retroperitoneal fibrosis lea...

Introduction: X-linked adrenoleukodystrophy (X-ALD) is a rare condition presented mainly in males during childhood and early adulthood. It represents almost 10% of primary adrenal insufficiency (PAI) or Addison’s disease cases.Clinical case: A 67-year-old male was diagnosed at the age of 61 with PAI during testing for mesenteric paniculitis while admitted in Internal Medicine service. He was treated with hydrocortisone and referred to outpatient end...