Tokumasu, Kazuki, Ochi, Kanako, Otsuka, Fumio · BMJ case reports · 2021 · DOI
Quick Summary
This case describes a 42-year-old man who was told he had chronic fatigue syndrome (CFS) and fibromyalgia, but was actually missing two important hormones: cortisol and growth hormone. When doctors tested his pituitary gland (which makes these hormones), they found deficiencies that weren't caught before. After starting treatment with these hormones, his severe tiredness, muscle pain, and depression all improved significantly.
Why It Matters
This case is important because it demonstrates that some patients diagnosed with CFS may actually have treatable hormone deficiencies that are being missed. It suggests that ME/CFS patients should be screened for pituitary hormone deficiencies, as correcting these deficiencies led to significant symptom improvement in this patient. This highlights the need for comprehensive endocrinological evaluation in CFS diagnostic workups.
Observed Findings
A 42-year-old man with 5 years of severe fatigue had abnormal anterior pituitary function tests showing ACTH deficiency
Pituitary MRI was normal despite hormone deficiencies, indicating a functional rather than structural problem
Physiologic hydrocortisone replacement improved general fatigue
Growth hormone deficiency was identified on secondary testing with growth hormone-releasing peptide-2
GH replacement therapy improved muscle pain and depression symptoms
Inferred Conclusions
Combined ACTH and GH deficiency can present clinically similar to CFS and fibromyalgia
Comprehensive endocrinological testing should be considered as part of CFS diagnostic evaluation
Hormone replacement therapy was an effective treatment for this patient's symptoms
Functional pituitary hormone deficiencies may be an underrecognized differential diagnosis in severe fatigue cases
Remaining Questions
How common is combined ACTH and GH deficiency in diagnosed CFS populations?
What percentage of CFS patients would show improvement with hormone replacement if screened?
What This Study Does Not Prove
This single case report does not prove that hormone deficiencies cause CFS broadly or establish how common this condition is in CFS populations. It does not demonstrate that all CFS patients would benefit from hormone screening, nor does it establish whether the hormone deficiency was the primary cause of the patient's symptoms or a separate contributing condition. Larger studies are needed to determine if this finding applies beyond individual cases.
Tags
Symptom:PainFatigue
Biomarker:Blood Biomarker
Method Flag:Weak Case DefinitionNo ControlsSmall SampleExploratory Only