Endocrine Abstracts

Background: Multiple endocrine neoplasia (MEN) type 2B is an autosomal dominant condition characterised by aggressive medullary C cell tumours, phaeochromocytoma and a discrete physical appearance. A specific point mutation in the RET proto-oncogene is present in 95% cases; prophylactic thyroidectomy is recommended in the mutation carriers. Occasionally cases present with the characteristic physical appearance of MEN2B but no identifiable germline mutation or endocrinop...

Nonautoimmune hyperthyroidism (NAH) inherited as an autosomal dominant trait can result from activating germline mutations in the thyrotropin receptor (TSHR) gene. Clinical features described include nonremitting thyrotoxicosis, absence of the features of autoimmune thyrotoxicosis, advanced bone age and increased growth velocity. We report a family with a heterozygous germline mutation of the TSHR gene resulting in the substitution of serine (AGC) by asparagine (AAC) at codon ...

We present a patient with asymtomatic primary hyperparathyroidism who became normocalcaemic following spontaneous infarction of a parathyroid adenoma. He was referred by the General Practitioner following an episode of renal colic when he was found to have a raised adjusted serum calcium level of 3.07 millimols/litre (ref 2.10-2.70). Parathyroid hormone level was 33.2 picomols/litre (ref 1.3-7.6), confirming primary hyperparathyroidism. A SESTIMIBI scan revealed a parathyroid ...

We present a patient with asymtomatic primary hyperparathyroidism who became normocalcaemic following spontaneous infarction of a parathyroid adenoma. He was referred by the General Practitioner following an episode of renal colic when he was found to have a raised adjusted serum calcium level of 3.07 millimols/litre (ref 2.10-2.70). Parathyroid hormone level was 33.2 picomols/litre (ref 1.3-7.6), confirming primary hyperparathyroidism. A SESTIMIBI scan revealed a parathyroid ...