Resistance to multiple steroids in two sisters

Maria 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

14 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)161-166
Number of pages6
JournalJournal of Steroid Biochemistry and Molecular Biology
Volume76
Issue number1-5
DOIs
StatePublished - Jun 18 2001

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Medicine
  • Molecular Biology
  • Endocrinology
  • Clinical Biochemistry
  • Cell Biology

Fingerprint Dive into the research topics of 'Resistance to multiple steroids in two sisters'. Together they form a unique fingerprint.

  • Cite this

    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. (2001). Resistance to multiple steroids in two sisters. Journal of Steroid Biochemistry and Molecular Biology, 76(1-5), 161-166. https://doi.org/10.1016/S0960-0760(01)00045-0