Endocrine Abstracts

Clinical case: A 21 year-old Caucasian kitchen porter presented with an episode of acute severe muscle weakness. He was receiving treatment for Graves’ disease which had been diagnosed two months previously. He was fully alert, normotensive, tachycardic, with a flaccid quadriparesis, diminished reflexes and flexor plantars. Sensation was not impaired and his muscles were diffusely tender on palpation. Blood tests revealed hypokalaemia (K+1.9 mmol/l), hypomagnes...

Cowden syndrome is an autosomal dominant disorder characterized by germline mutations in the PTEN tumour suppressor gene on 10q23.3 which mediates cell-cycle arrest and apoptosis. The diagnosis is primarily based on clinical findings including a combination of mucocutaneous lesions (trichilemmomas), macrocephaly, thyroid lesions (mainly follicular adenoma or carcinoma) and breast and endometrial cancer. The prevalence is estimated at 1/200 000. Lifetime risk for developing bre...