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Abnormal Function of Endocrine Pancreas and Anterior Pituitary in Friedreich's Ataxia: Studies in a Family

THOMAS D. BIRD, M.D.; JOHN L. TURNER, M.D.; S. MARK SUMI, M.D.; and EDWIN L. BIERMAN, M.D.
[+] Article and Author Information

Grant support: A portion of this study was supported by a USPHS grant to the University of Washington Clinical Research Center (FR-37), by a grant from the NIAMDD (AM 05239), PHS grant #1-F22-NS01561-01, the Seattle Veterans Administration Hospital General Medical Research Fund, and the Gallagher Fund.

▸Requests for reprints should be addressed to Thomas D. Bird, M.D.; Veterans Administration Hospital; Beacon Avenue; Seattle, WA 98108.


Seattle, Washington


© 1978 American College of PhysiciansAmerican College of Physicians


Ann Intern Med. 1978;88(4):478-481. doi:10.7326/0003-4819-88-4-478
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A family had three siblings affected with classic Friedreich's ataxia. One sibling died at age 20 with fulminant diabetic ketoacidosis. The other two affected siblings are identical twin sisters without clinical diabetes but with an abnormality in the metabolism of exogenously administered glucose. These twins also have abnormal hypothalamic-pituitary control of prolactin and possibly of growth-hormone secretion. This study extends the previous reports of endocrine deficiencies associated with Friedreich's ataxia. The mechanisms underlying this association are undetermined but could represent pleiotropic effects of the Friedreich's ataxia gene or secondary manifestations of the primary central nervous system degeneration, or both.

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