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[Sporadic primary hyperparathyroidism with multiple parathyroid adenomas].

E E Bibik1, A K Eremkina1, O A Knyazeva2

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Summary

This case study highlights a young patient with severe primary hyperparathyroidism (PHPT) and large parathyroid neoplasms. Despite initial surgery, recurrent disease necessitates ongoing monitoring for optimal patient outcomes.

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Area of Science:

  • Endocrinology
  • Oncology
  • Genetics

Background:

  • Primary hyperparathyroidism (PHPT) can present with multiple parathyroid gland (PTG) lesions, either sporadically or as part of hereditary syndromes.
  • Young patients with severe PHPT may develop large parathyroid neoplasms, necessitating differential diagnosis including hereditary syndromes and parathyroid carcinoma.
  • Genetic mutations (CDKN, CDC73, MEN1) were excluded in this case, suggesting a sporadic form of severe PHPT.

Purpose of the Study:

  • To describe a rare case of severe sporadic PHPT with significant parathyroid neoplasms in a young patient.
  • To discuss the diagnostic challenges and management of recurrent PHPT after initial surgical intervention.
  • To emphasize the importance of long-term monitoring in managing complex PHPT cases.

Main Methods:

  • Clinical data analysis and diagnostic workup.
  • Surgical removal of identified parathyroid tumors.
  • Postoperative management of complications like hypocalcemia and hungry bone syndrome.
  • Genetic mutation analysis (CDKN, CDC73, MEN1) to exclude hereditary syndromes.

Main Results:

  • The patient presented with severe PHPT and large parathyroid neoplasms, initially suspected to be MEN-1 syndrome or parathyroid carcinoma.
  • Surgical removal of three tumors (left PTG adenomas, right PTG hyperplasia) was performed.
  • Postoperative complications included hypocalcemia and hungry bone syndrome, managed with vitamin D and calcium.
  • A year after surgery, recurrent mild PHPT was diagnosed.

Conclusions:

  • Despite negative genetic testing for common hereditary syndromes, severe sporadic PHPT with large neoplasms can occur in young individuals.
  • Recurrence of PHPT is possible even after initial surgical treatment, requiring vigilant follow-up.
  • Active observation and dynamic monitoring are crucial for timely intervention in recurrent PHPT, balancing treatment benefits with patient quality of life.