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Hyperthyroidism in McCune-Albright Syndrome - a case report.

Patrícia Rosinha1, Diogo Ramalho2, Orlando Rodrigues3

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Journal of Pediatric Endocrinology & Metabolism : JPEM
|November 9, 2022
PubMed
Summary

McCune-Albright Syndrome (MAS) can cause hyperthyroidism (HT), negatively impacting fibrous dysplasia (FD) pain. Early suspicion of hyperfunctioning endocrinopathies (HFE) is crucial for managing MAS patients.

Keywords:
McCune-albright syndromehyperfunctioning endocrinopathieshyperthyroidismpolyostotic fibrous dysplasia

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Area of Science:

  • Endocrinology
  • Pediatrics
  • Genetics

Background:

  • McCune-Albright Syndrome (MAS) is a rare genetic disorder characterized by fibrous dysplasia (FD), café-au-lait skin pigmentation, and hyperfunctioning endocrinopathies (HFE).
  • Fibrous dysplasia causes bone lesions and pain, often requiring extensive management.
  • Hyperfunctioning endocrinopathies, such as hyperthyroidism, can complicate MAS management.

Observation:

  • A 13-year-old male with MAS presented with severe, disabling polyostotic FD and a lumbosacral café-au-lait macule.
  • The patient developed hyperthyroidism (HT) at age 5, treated with anti-thyroid drugs (ATD).
  • Pain significantly improved after initiating ATD, allowing discontinuation of bisphosphonate therapy.

Findings:

  • MAS-associated HT exacerbated FD-related pain.
  • Thyroid hormone excess negatively impacted bone disease in this patient.
  • Surgical thyroidectomy was performed at age 12 years and 5 months.

Implications:

  • This case highlights the detrimental effect of thyroid hormone excess on fibrous dysplasia.
  • A low threshold for suspecting and investigating hyperfunctioning endocrinopathies in MAS is essential.
  • Prompt management of endocrinopathies may improve pain and reduce the need for aggressive bone-targeted therapies.