Comment to ‘Glucocorticoid resistance syndrome caused by a novel NR3C1 point mutation’ by Al Argan et al
Dear Editor, Al Argan et al. recently reported on this journal a case of a woman with a longstanding history of low body weight, hyperandrogenism and evidence of ACTHdependent hypercortisolism, consistent with glucocorticoid resistance syndrome (GRS), resulted to be due to a novel pathogenic mutatio...
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Veröffentlicht in: | ENDOCRINE JOURNAL 2019, Vol.66(7), pp.657 |
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Hauptverfasser: | , , , , |
Format: | Artikel |
Sprache: | eng |
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Online-Zugang: | Volltext |
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Zusammenfassung: | Dear Editor, Al Argan et al. recently reported on this journal a case of a woman with a longstanding history of low body weight, hyperandrogenism and evidence of ACTHdependent hypercortisolism, consistent with glucocorticoid resistance syndrome (GRS), resulted to be due to a novel pathogenic mutation of the NR3C1 gene encoding the glucocorticoid receptor (GR). They also reviewed the current literature of this extremely rare condition that, according to the Authors, would consist in only 21 reports with 23 index cases published worldwide. |
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ISSN: | 0918-8959 1348-4540 |
DOI: | 10.1507/endocrj.EJ19-0122 |