Multiple endocrine neoplasia syndromes

Case history #1

A 25-year-old woman presenting with renal colic also complains of new-onset headaches, fatigue, and constipation. Her menstrual cycle is regular and she has not experienced episodes of flushing. Her weight is unchanged and her peripheral vision is normal. Family history reveals that her father had kidney stones and died of a 'stomach problem' in his 60s. Examination is unremarkable with visual fields full to confrontation.

Case history #2

An 18-year-old man with no medical history presents with a lump on his neck that he noticed while shaving. A 2-cm thyroid nodule is palpable. There is nothing else of note on examination.

Other presentations

Presenting complaints can include any of the symptoms of any of the characteristic tumours.

Pituitary adenomas may present with headaches and visual field defects, or symptoms related to anterior pituitary hormone excess including galactorrhoea, low libido and oligo/amenorrhoea (due to a prolactinoma), sweating and increased ring/shoe size with or without diabetes mellitus (due to acromegaly), central adiposity, easy bruising, slow wound healing, emotional lability, proximal myopathy with or without hypertension and/or diabetes mellitus (due to Cushing’s disease), or symptoms of anterior pituitary hormone deficiency (due to a non-functioning pituitary adenoma).

Phaeochromocytomas may present with episodic headaches, sweating, palpitations, and hypertension.

Pancreatic lesions are often asymptomatic and may present with symptoms of peptic ulceration and diarrhoea (gastrinomas), recurrent hypoglycaemia (insulinomas), or diabetes mellitus with or without a rash (glucagonoma).