[HTML][HTML] Pregnancy, Primary Aldosteronism, and Adrenal CTNNB1 Mutations

AED Teo, S Garg, L Haris Shaikh, J Zhou… - … England Journal of …, 2015 - Mass Medical Soc
AED Teo, S Garg, L Haris Shaikh, J Zhou, FE Karet Frankl, M Gurnell, L Happerfield…
New England Journal of Medicine, 2015Mass Medical Soc
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 β-catenin in the Wnt cell-differentiation pathway,
and expressed LHCGR and GNRHR, encoding gonadal receptors, at levels that were more …
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 β-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. (Funded by grants from the National Institute for Health Research Cambridge Biomedical Research Centre and others.)
The New England Journal Of Medicine