Resistance to multiple steroids in two sisters

A 14-year-old Native American girl from the Iroquois Nation was referred as a potential patient with the syndrome of Apparent Mineralocorticoid Excess. Instead, her evaluation revealed resistance to glucocorticoids, mineralocorticoids, and androgens. She lacked Cushingoid features in spite of signif...

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Bibliographic Details
Published in:Journal of steroid biochemistry and molecular biology 2001-01, Vol.76 (1), p.161-166
Main Authors: New, Maria I., Nimkarn, S., Brandon, D.D., Cunningham-Rundles, S., Wilson, R.C., Newfield, R.S., Vandermeulen, J., Barron, N., Russo, C., Loriaux, D.L., O'Malley, B.
Format: Article
Language:English
Subjects:
Adolescent
Adrenal Glands - diagnostic imaging
Adrenal Glands - pathology
Adrenals. Adrenal axis. Renin-angiotensin system (diseases)
Androgens - blood
Biological and medical sciences
Child
Endocrinopathies
Female
Glucocorticoids - blood
Humans
Hydrocortisone - blood
Hypothalamo-Hypophyseal System - physiopathology
Male
Medical sciences
Mineralocorticoids - blood
Non tumoral diseases. Target tissue resistance. Benign neoplasms
Pedigree
Radiography
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Summary:A 14-year-old Native American girl from the Iroquois Nation was referred as a potential patient with the syndrome of Apparent Mineralocorticoid Excess. Instead, her evaluation revealed resistance to glucocorticoids, mineralocorticoids, and androgens. She lacked Cushingoid features in spite of significantly high cortisol levels. Menstruation was regular and there was no clinical evidence of masculinization despite high serum androgen levels in the male range. The patient's sister had similar clinical features. Partial resistance to exogenous glucocorticoid and mineralocorticoid administration was well demonstrated in both patients. It is proposed that these patients represent the first cases of partial resistance to multiple steroids, possibly owing to a coactivator defect.
ISSN:0960-0760
1879-1220
DOI:10.1016/S0960-0760(01)00045-0