Resistance to several steroids in two sisters

M. I. New, S. Nimkarn, D. D. Brandon, S. Cunningham-Rundles, R. C. Wilson, R. S. Newfield, J. Vandermeulen, N. Barron, C. Russo, D. L. Loriaux, B. O'Malley

Research output: Contribution to journalArticle

31 Scopus citations

Abstract

A 14-yr-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, but no resistance to vitamin D or thyroid hormones. She lacked Cushingoid features despite 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 due to a coactivator defect.

Original languageEnglish (US)
Pages (from-to)4454-4464
Number of pages11
JournalJournal of Clinical Endocrinology and Metabolism
Volume84
Issue number12
DOIs
StatePublished - Jan 1 1999

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Endocrinology
  • Clinical Biochemistry
  • Biochemistry, medical

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    New, M. 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. (1999). Resistance to several steroids in two sisters. Journal of Clinical Endocrinology and Metabolism, 84(12), 4454-4464. https://doi.org/10.1210/jc.84.12.4454