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Related Experiment Videos

Resistance to multiple steroids in two sisters.

M I New1, S Nimkarn, D D Brandon

  • 1Department of Pediatrics, Division of Pediatric Endocrinology, The New York Presbyterian Hospital-Weill Medical College of Cornell University, 525 East 68th Street, Room M-622, New York, NY, USA. minew@med.cornell.edu

The Journal of Steroid Biochemistry and Molecular Biology
|June 1, 2001
PubMed
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This study identifies a rare genetic condition in two sisters exhibiting resistance to multiple steroid hormones, including glucocorticoids, mineralocorticoids, and androgens. These findings suggest a potential coactivator defect impacting steroid hormone signaling.

Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Apparent Mineralocorticoid Excess (AME) is a rare genetic disorder.
  • Patients typically present with hypertension, hypokalemia, and metabolic alkalosis due to mineralocorticoid receptor overactivity.
  • This case involves a patient initially suspected of AME.

Observation:

  • A 14-year-old Native American girl presented with symptoms inconsistent with AME.
  • Despite high cortisol levels, she lacked Cushingoid features.
  • She also had normal menstruation and no signs of masculinization despite male-range androgen levels.

Findings:

  • Evaluation revealed partial resistance to glucocorticoids, mineralocorticoids, and androgens.
  • The patient's sister presented with similar clinical features.

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  • Both patients demonstrated partial resistance to exogenous glucocorticoid and mineralocorticoid administration.

    • Implications:

    • These cases represent the first documented instances of partial resistance to multiple steroid hormones.
    • A potential defect in a steroid hormone coactivator is proposed as the underlying cause.
    • This discovery may lead to a better understanding of steroid hormone action and related disorders.