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Related Experiment Videos

Familial Cushing Disease

I S Salti, I S Mufarrij

    American Journal of Medical Genetics
    |January 1, 1981
    PubMed
    Summary

    Cushing syndrome, caused by pituitary ACTH excess, was diagnosed in a woman and her niece. Both responded to pituitary irradiation, with the woman achieving long-term remission.

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    Area of Science:

    • Endocrinology
    • Neuroendocrinology
    • Oncology

    Background:

    • Cushing syndrome is a complex hormonal disorder.
    • Pituitary ACTH excess is a common cause of Cushing syndrome.
    • Early diagnosis and treatment are crucial for patient outcomes.

    Observation:

    • A 28-year-old woman and her niece presented with clinical signs of Cushing syndrome.
    • Endocrine studies, including dexamethasone suppression tests, confirmed pituitary ACTH excess in both patients.
    • The woman had a normal-sized sella turcica, while her niece had an enlarged sella turcica on tomography.

    Findings:

    • External pituitary irradiation led to clinical and hormonal remission in the woman.
    • The woman has remained disease-free for 9 years post-treatment.
    • The niece is currently undergoing external pituitary irradiation for her condition.

    Implications:

    • External pituitary irradiation is an effective treatment for pituitary ACTH excess.
    • This case highlights the potential for familial occurrence of Cushing syndrome.
    • Long-term follow-up is essential for patients treated for pituitary ACTH excess.

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