Endocrine Abstracts

Autoimmune Polyendocrine Syndromes (APS) are heterogenous organ-specific autoimmune disorders affecting multiple endocrine glands, although non-endocrine organs can also be affected. We describe a 58 year old gentleman with a background of type 1 diabetes mellitus (T1DM), Addison’s disease and primary autoimmune hypothyroidism, who presented with a two day history of vomiting. He had no associated diarrhoea, abdominal pain, or fever and there was no history of recent trav...

31 year old lady was referred to the endocrine clinic by her GP in August 2008. She had 1 year history of galactorrhoea, 4 months history of irregular periods and intermittent short lived severe headache in the right temporal area without visual disturbance. Her investigation showed a prolactin level of 900 mmol/l, subsequent MRI scan confirmed the presence of right-sided pituitary adenoma of around 1 cm in size with evidence of recent haemorrhage in to it and normal other pit...

A 29-year-old gentleman known to the pediatric endocrinologist for non-mosaic Klinefelter’s (XXY) syndrome. The diagnosis was made opportunistically when a karyotype was organized following his presentation at age of 4 years with delayed developmental milestone. He went through puberty spontaneously and was transitioned to adult endocrinologist in September 2005. At the time he did not have symptom of hypogonadism but did have elevated gonadotropins in keeping with the di...

The calcium-sensing receptor (CaSR) is a G-protein coupled receptor expressed in the parathyroid gland and kidneys. Loss of function mutations of the CaSR result in familial hypocalciuric hypercalcaemia (FHH). Rarer, gain of function mutations of the CaSR result in hypercalciuric hypocalcaemia and are inherited in an autosomal dominant pattern. The phenotype varies from asymptomatic individuals, to profound hypocalcaemia. We present a severely affected individual whose case hi...

A 54-year-old female presented to her GP with a 9-year history of poorly controlled hypertension (requiring five drugs) and type 2 diabetes mellitus, associated with central weight gain, low mood and poor wound healing. On examination she had clinical evidence of glucocorticoid excess. Cushing’s syndrome was confirmed on low dose dexamethasone suppression testing (2+0 cortisol 857 nmol/l, 2+48 cortisol 346 nmol/l). Cushing’s day curve demonstrated loss of circadian r...

The calcium-sensing receptor (CaSR) is a G-protein coupled receptor expressed in the parathyroid gland and kidneys. Loss of function mutations of the CaSR result in familial hypocalciuric hypercalcaemia (FHH). Rarer, gain of function mutations of the CaSR result in hypercalciuric hypocalcaemia and are inherited in an autosomal dominant pattern. The phenotype varies from asymptomatic individuals, to profound hypocalcaemia. We present a severely affected individual whose case hi...