Neurofibromatosis Type 1 with Concurrent Multiple Endocrine Disorders: Adenomatous Goiter, Primary Hyperparathyroidism, and Acromegaly

Intern Med. 2021;60(15):2451-2459. doi: 10.2169/internalmedicine.4981-20. Epub 2021 Aug 1.

Abstract

We encountered a 70-year-old Japanese woman with neurofibromatosis type 1 (NF1) who had a history of pheochromocytoma and concurrently developed adenomatous goiter, primary hyperparathyroidism, and acromegaly. The patient had a somatotroph adenoma of the adenohypophysis that predisposed her to multinodular goiter. Three parathyroid tumors were detected by cervical ultrasonography and cervicothoracic computed tomography. Genetic analyses did not reveal genetic alterations (e.g. loss-of-function mutation) in the causative genes of endocrine tumors, including MEN1, RET, VHL, CDKN1B, and CDKN2C. The NF1 gene could not be analyzed genetically due to the patient's refusal. The pathophysiologic mechanisms of endocrinopathy concurrence in NF1 remain to be elucidated.

Keywords: acromegaly; adenomatous goiter; neurofibromatosis type 1; primary hyperparathyroidism.

Publication types

  • Case Reports

MeSH terms

  • Acromegaly* / complications
  • Acromegaly* / diagnosis
  • Acromegaly* / genetics
  • Adrenal Gland Neoplasms*
  • Aged
  • Female
  • Goiter*
  • Humans
  • Hyperparathyroidism, Primary* / complications
  • Hyperparathyroidism, Primary* / diagnosis
  • Hyperparathyroidism, Primary* / genetics
  • Multiple Endocrine Neoplasia Type 1*
  • Neurofibromatosis 1* / complications
  • Neurofibromatosis 1* / genetics