Abnormal Function of Endocrine Pancreas and Anterior Pituitary in Friedreich's Ataxia

doi:10.1059/0003-4819-88-4-478

Abnormal Function of Endocrine Pancreas and Anterior Pituitary in Friedreich's Ataxia

Studies in a Family

Seattle, Washington

Abstract

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.

Article and Author Information

▸From the Divisions of Neurology, Medical Genetics and Metabolism, Endocrinology, and Gerontology, Department of Medicine, and the Laboratory of Neuropathology, University of Washington; and the Seattle Veterans Administration Hospital; Seattle, Washington.
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.
- Received August 1, 1977.
- Accepted December 1, 1977.