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Multiple endocrine neoplasia type IIa: a case report

T Seeherunvong1, S Churesigaew, V Hemsrichart

  • 1Department of Medical Services, Children's Hospital, Bangkok, Thailand.

Journal of the Medical Association of Thailand = Chotmaihet Thangphaet
|November 6, 1998
PubMed
Summary

A young girl was diagnosed with medullary thyroid carcinoma and hyperparathyroidism, indicating Multiple Endocrine Neoplasia type IIa (MEN IIa). Early recognition and family screening are crucial for this rare, potentially lethal syndrome.

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Area of Science:

  • Endocrinology
  • Oncology
  • Genetics

Background:

  • Multiple Endocrine Neoplasia type IIa (MEN IIa) is a rare genetic disorder.
  • It is characterized by medullary thyroid carcinoma, pheochromocytomas, and parathyroid hyperplasia.

Observation:

  • A 12-year-old girl presented with prolonged fever, a painless enlarged thyroid gland, and symptoms suggestive of hyperparathyroidism.
  • Thyroid imaging revealed a cold nodule, later diagnosed as medullary thyroid carcinoma.
  • Biochemical tests confirmed hypercalcemia, hypophosphatemia, and elevated serum alkaline phosphatase.

Findings:

  • The patient was diagnosed with medullary thyroid carcinoma and hyperparathyroidism, consistent with MEN IIa.
  • Pheochromocytoma was ruled out based on normal urinary vanillyl mandelic acid levels and adrenal ultrasonography.

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  • The diagnosis was established despite the absence of pheochromocytoma, highlighting variations in MEN IIa presentation.

    • Implications:

    • This case underscores the importance of early diagnosis and genetic screening for MEN IIa in affected families.
    • Prompt recognition can lead to timely intervention, potentially improving patient outcomes.
    • Understanding the spectrum of MEN IIa presentation is vital for accurate diagnosis and management.