Glucocorticoid Resistance Syndrome in Two Patients With Diverse Genotype

    January 2025 in “ JCEM Case Reports ”
    Tess Battiola, David Viskochil, Kaci Wolken, Marie Couldwell
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    Studysummary This report describes two cases of glucocorticoid resistance syndrome highlighting genetic diversity; one patient improved with low-dose dexamethasone despite negative genetic testing, while the other is monitored with a novel NR3C1 variant.
    Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
    The study examines Glucocorticoid Resistance Syndrome (GRS) in two patients, emphasizing the genetic diversity and diagnostic challenges of the condition. Patient A, a 66-year-old woman, had neuropsychiatric symptoms and hypercortisolism but no NR3C1 gene variant; her symptoms improved with low-dose dexamethasone. Patient B, a 43-year-old woman, had a novel NR3C1 variant and similar symptoms, with stable condition under monitoring. The study highlights the complexity of diagnosing and managing GRS due to its broad clinical spectrum and genetic variability, suggesting the importance of NR3C1 sequencing and focusing on suppressing the HPA axis in management.
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