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Resistance to several steroids in two sisters.
M I New1, S Nimkarn, D D Brandon
1Department of Pediatrics, New York-Presbyterian Hospital, New York Weill Cornell Center, 10021, USA. minew@mail.med.cornell.edu
This study identifies a rare genetic condition in a young Native American girl exhibiting partial resistance to multiple steroid hormones, including glucocorticoids, mineralocorticoids, and androgens. This finding suggests a potential coactivator defect affecting steroid hormone action.
Area of Science:
- Endocrinology
- Genetics
- Molecular Biology
Background:
- Apparent mineralocorticoid excess (AME) is a rare genetic disorder.
- Steroid hormone resistance can manifest in various forms, impacting multiple hormone pathways.
- Understanding these pathways is crucial for diagnosing and managing complex endocrine disorders.
Observation:
- A 14-year-old Iroquois girl presented with symptoms initially suggestive of AME.
- Evaluation revealed resistance to glucocorticoids, mineralocorticoids, and androgens, but not to vitamin D or thyroid hormones.
- Despite high cortisol and male-range androgen levels, she lacked Cushingoid features and clinical masculinization, with regular menstruation.
Findings:
- The patient and her sister demonstrated partial resistance to exogenous glucocorticoid and mineralocorticoid administration.
- This case presents as the first documented instance of partial resistance to multiple steroid hormones.
- The observed phenotype suggests a potential defect in a steroid hormone coactivator.
Implications:
- This discovery expands the spectrum of known steroid hormone resistance syndromes.
- It highlights the potential role of coactivators in mediating the effects of multiple steroid hormones.
- Further research into coactivator function could reveal new therapeutic targets for endocrine disorders.
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