Torpy, D J, Bachmann, A W, Grice, J E et al. · The Journal of clinical endocrinology and metabolism · 2001 · DOI
This study examined a family with a genetic mutation affecting a protein called corticosteroid-binding globulin (CBG), which helps transport the stress hormone cortisol in the blood. People with this mutation had unusually low blood pressure and chronic fatigue—in fact, 86% of affected adults met criteria for chronic fatigue syndrome. The findings suggest that problems with how the body handles cortisol may contribute to fatigue disorders.
This study provides genetic and biochemical evidence that disrupted cortisol transport and bioavailability may underlie chronic fatigue and hypotension, offering a potential mechanistic pathway relevant to ME/CFS. Understanding CBG's role in stress response and energy regulation could inform future research into why some patients develop persistent fatigue.
This study does not prove that CBG mutations are a common cause of ME/CFS or idiopathic chronic fatigue in the general population—it is a rare family kindred, not a population-based survey. The mechanism by which CBG deficiency causes fatigue is not established; correlation between low cortisol and fatigue does not prove causation. The study cannot determine whether CBG abnormalities are sufficient to cause CFS-like illness independently or require additional genetic or environmental factors.
About the PEM badge: “PEM required” means post-exertional malaise was an explicit required diagnostic criterion for participant inclusion in this study — not that PEM was studied, observed, or discussed. Studies using criteria that do not require PEM (e.g. Fukuda, Oxford) are tagged “PEM not required”. How the atlas works →
The first block is for the primary paper and is the citation you should use in research work. The atlas-snapshot line only applies if you are specifically referring to this atlas’s reading of the paper on the date shown.
Primary citation
Torpy, D J, Bachmann, A W, Grice, J E, Fitzgerald, S P, Phillips, P J, Whitworth, J A, et al. (2001). Familial corticosteroid-binding globulin deficiency due to a novel null mutation: association with fatigue and relative hypotension.. The Journal of clinical endocrinology and metabolism. https://doi.org/10.1210/jcem.86.8.7724
BibTeX
@article{mecfsatlas-torpy-2001-familial-corticosteroid,
author = {Torpy, D J and Bachmann, A W and Grice, J E and Fitzgerald, S P and Phillips, P J and Whitworth, J A and Jackson, R V},
title = {Familial corticosteroid-binding globulin deficiency due to a novel null mutation: association with fatigue and relative hypotension.},
journal = {The Journal of clinical endocrinology and metabolism},
year = {2001},
doi = {10.1210/jcem.86.8.7724},
note = {PubMed: 11502797},
url = {https://www.mecfsatlas.com/evidence/torpy-2001-familial-corticosteroid},
}Atlas snapshot reference
ME/CFS Atlas. Generator v1 / Scanner v1.4 / policy v0.1. Accessed 2026-05-28. https://www.mecfsatlas.com/evidence/torpy-2001-familial-corticosteroid
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