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Human Neuroendocrine Tumor Cell Lines as a Three-Dimensional Model for the Study of Human Neuroendocrine Tumor Therapy

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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

Summary

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.

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Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms

Published on: December 9, 2015

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.
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.