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Open access

Maria Cabrer, Guillermo Serra, María Soledad Gogorza and Vicente Pereg

Summary

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a genetic syndrome that may present with hypocalcemia due to primary hypoparathyroidism (PH) at any age. We report a new diagnosis of 22q11.2DS in a 57-year-old man who presented with symptomatic hypocalcemia. It is important to consider genetic causes of hypocalcemia due to PH regardless of age.

Learning points:

  • It is important to discard genetic cause of primary hypoparathyroidism in a patient without autoimmune disease or prior neck surgery.

  • A new diagnosis of a hereditary disease has familial implications and needs genetic counselling.

  • It is also important to discard other syndrome’s comorbidities.

Open access

I R Wallace, E Healy, R S Cooke, P K Ellis, R Harper and S J Hunter

Summary

TSH-secreting pituitary adenomas are rare and the optimal investigation and management is uncertain. We describe a case of a 43 year-old woman with a TSH-secreting pituitary adenoma, highlighting diagnostic testing and our use, pre-operatively of somatostatin analogue therapy, which induced biochemical euthyroidism and a reduction in tumour size.

Learning points

  • The differential diagnosis of the syndrome of inappropriate TSH secretion is non-thyroidal illness, medications, assay interference due to heterophilic antibodies, thyroid hormone resistance and TSH-secreting pituitary adenoma.

  • TRH stimulation test and triiodothyronine suppression test assist in differentiating thyroid hormone resistance and TSH-secreting pituitary adenoma.

  • Somatostatin analogue therapy can induce biochemical euthyroidism and reduce tumour size.