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Cretinism presenting as a pseudotumour.

D M Mahesh1, Felix K Jebasingh1, Manash P Baruah2

  • 1Department of Endocrinology, Diabetes and Metabolism, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.

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|January 11, 2015
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Summary

A rare case of a giant pituitary pseudotumor in an adult with congenital hypothyroidism was observed. Treatment with thyroid hormone replacement therapy led to tumor shrinkage and resolved hydrocephalus.

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Area of Science:

  • Endocrinology
  • Neurology
  • Radiology

Background:

  • Congenital hypothyroidism can present atypically in adulthood.
  • Pituitary pseudotumors are rare sellar masses.
  • Untreated hypothyroidism can lead to pituitary enlargement.

Observation:

  • A 43-year-old man with short stature, delayed puberty, and intellectual disability presented with a 3-year history of headache.
  • Imaging revealed a large sellar mass with suprasellar extension causing obstructive hydrocephalus.
  • The patient had primary hypothyroidism with markedly elevated thyroid-stimulating hormone levels.

Findings:

  • The sellar mass significantly reduced in size following thyroid hormone replacement therapy.
  • Hydrocephalus resolved with treatment, suggesting the mass was a pituitary pseudotumor.
  • Congenital hypothyroidism was confirmed by absent radioiodine uptake in the thyroid bed.

Implications:

  • This case highlights the potential for pituitary pseudotumors in adults with untreated congenital hypothyroidism.
  • Thyroid hormone replacement therapy can be an effective treatment for such cases.
  • Early diagnosis and management of congenital hypothyroidism are crucial to prevent long-term complications.