Endocrine Abstracts

Gaucher’s disease is an inherited disorder caused by loss or reduced activity of the lysosomal enzyme glucocerebrosidase (GBA). Nearly 80% of patients with Gaucher’s disease develop abnormal bone remodelling with severe consequences, including bone crises, osteonecrosis and osteoporosis related fractures. Although enzyme replacement therapy is effective at alleviating most manifestations of the disease, only modest improvements in bone health can be achieved. The rea...

Background: Primary hyperparathyroidism (PHPT) is the third most common endocrine disorder, with an estimated prevalence of 1 to 4 per 1000 in the general population. It is well established that vitamin D deficiency co-exists with PHPT. However, there are very few studies that looked at the relationship of the severity of vitamin D deficiency to the clinical and biochemical presentations of PHPT.Aim: This study evaluated the prevalence of vitamin D defic...

Alstrom syndrome is an autosomal recessive ciliopathy that is characterised by increased body mass index, type 2 diabetes, retinal dystrophy, sensorineural hearing loss, cardiac fibrosis, and chronic kidney disease. Non-alcoholic fatty liver disease (NAFLD) in Alstrom patients ranges from simple steatosis, steatohepatitis and ultimately to fibrosis and cirrhosis. Nafld fibrosis score (http://nalfdscore.com/), enhanced liver fibrosis (ELF)-panel blood tests and Fibroscans are n...

Glycogen storage diseases (GSD) are autosomal recessive inborn errors of carbohydrate metabolism. With current dietary therapy, life expectancy in patients with GSD has improved considerably and almost all children reach adulthood. Notwithstanding intensive therapy, patients with GSD have an increased risk of osteoporosis. We followed 20 patients aged 22–62 (mean age of 37) years with GSD type I, III and IX, for up to 5 years with serial measurements of bone turnover mark...