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Updated: May 10, 2025

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Pituitary Complications of Enchondromas Due to Maffucci Syndrome

Nicole Morozov1, Rafael Fell1, Muhammad Mahmood1

  • 1Department of Internal Medicine, The Jewish Hospital (Bon Secours Mercy Health), Cincinnati, OH 45236, USA.

JCEM Case Reports
|April 21, 2025
PubMed

Insights

Maffucci syndrome (MS), a rare genetic disorder, can cause pituitary tumors. This case highlights the importance of endocrine evaluation for MS patients with neurological tumors.

Area of Science:

  • Genetics
  • Endocrinology
  • Oncology

Background:

  • Maffucci syndrome (MS) is a rare congenital disorder linked to IDH1/IDH2 gene mutations.
  • It commonly presents with enchondromas, chondrosarcomas, and intracranial tumors, notably pituitary adenomas.

Observation:

  • This report details a patient with MS experiencing complete anterior pituitary insufficiency.
  • The patient exhibited central hypothyroidism, adrenal insufficiency, and hypogonadotropic hypogonadism.

Findings:

  • These endocrine dysfunctions are potentially attributed to the mass effect of intracranial enchondromas.
  • Hormonal replacement therapy (thyroid hormone, hydrocortisone, cabergoline) effectively alleviated symptoms like fatigue and cold intolerance.

Implications:

  • The study underscores the necessity of comprehensive endocrinological assessment in MS patients with intracranial tumors.
  • Early detection and management of endocrine complications can significantly improve patient outcomes and quality of life.
Keywords:
Maffucci syndromeanterior pituitary insufficiencyhyperprolactinemiahypopituitarism

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