期刊
NEW ENGLAND JOURNAL OF MEDICINE
卷 373, 期 15, 页码 1429-1436出版社
MASSACHUSETTS MEDICAL SOC
DOI: 10.1056/NEJMoa1504869
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资金
- National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre (Cardiovascular) [NF-SI-0512-10052]
- Agency for Science, Technology and Research (AstarSTAR) Singapore
- Wellcome Trust [085686/Z/08/A]
- British Heart Foundation [FS/14/75/31134, FS/11/35/28871]
- Cambridge Overseas Trust
- NIHR Cambridge Biomedical Research Centre (Metabolic)
- Medical Research Council [U105192713]
- Tunku Abdul Rahman Centenary Fund, Cambridge
- Austin Doyle Award (Servier Australia)
- British Heart Foundation [SP/08/002/24118, FS/11/35/28871, FS/14/75/31134, PG/07/085/23349, FS/14/12/30540] Funding Source: researchfish
- Medical Research Council [MR/K501050/1, MC_U105184273, MC_U105192713] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0512-10052] Funding Source: researchfish
- Wellcome Trust [085686/Z/08/A] Funding Source: Wellcome Trust
- MRC [MC_U105192713, MC_U105184273] Funding Source: UKRI
Recent discoveries of somatic mutations permit the recognition of subtypes of aldosterone-producing adenomas with distinct clinical presentations and pathological features. Here we describe three women with hyperaldosteronism, two who presented in pregnancy and one who presented after menopause. Their aldosterone-producing adenomas harbored activating mutations of CTNNB1, encoding beta-catenin in the Wnt cell-differentiation pathway, and expressed LHCGR and GNRHR, encoding gonadal receptors, at levels that were more than 100 times as high as the levels in other aldosterone-producing adenomas. The mutations stimulate Wnt activation and cause adrenocortical cells to de-differentiate toward their common adrenal-gonadal precursor cell type.
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