Pregnancy, primary aldosteronism, and adrenal CTNNB1 mutations

Ada E D Teo, Sumedha Garg, Lalarukh Haris Shaikh, Junhua Zhou, Fiona E Karet Frankl, Mark Gurnell, Lisa Happerfield, Alison Marker, Mariann Bienz, Azizan Elena Aisha, Morris J. Brown

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58 Citations (Scopus)

Abstract

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 aldosteroneproducing 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.

Original languageEnglish
Pages (from-to)1429-1436
Number of pages8
JournalNew England Journal of Medicine
Volume373
Issue number15
DOIs
Publication statusPublished - 8 Oct 2015

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Hyperaldosteronism
Adenoma
Aldosterone
Pregnancy
Mutation
Catenins
Menopause
Cell Differentiation

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Teo, A. E. D., Garg, S., Shaikh, L. H., Zhou, J., Frankl, F. E. K., Gurnell, M., ... Brown, M. J. (2015). Pregnancy, primary aldosteronism, and adrenal CTNNB1 mutations. New England Journal of Medicine, 373(15), 1429-1436. https://doi.org/10.1056/NEJMoa1504869

Pregnancy, primary aldosteronism, and adrenal CTNNB1 mutations. / Teo, Ada E D; Garg, Sumedha; Shaikh, Lalarukh Haris; Zhou, Junhua; Frankl, Fiona E Karet; Gurnell, Mark; Happerfield, Lisa; Marker, Alison; Bienz, Mariann; Elena Aisha, Azizan; Brown, Morris J.

In: New England Journal of Medicine, Vol. 373, No. 15, 08.10.2015, p. 1429-1436.

Research output: Contribution to journalArticle

Teo, AED, Garg, S, Shaikh, LH, Zhou, J, Frankl, FEK, Gurnell, M, Happerfield, L, Marker, A, Bienz, M, Elena Aisha, A & Brown, MJ 2015, 'Pregnancy, primary aldosteronism, and adrenal CTNNB1 mutations', New England Journal of Medicine, vol. 373, no. 15, pp. 1429-1436. https://doi.org/10.1056/NEJMoa1504869
Teo AED, Garg S, Shaikh LH, Zhou J, Frankl FEK, Gurnell M et al. Pregnancy, primary aldosteronism, and adrenal CTNNB1 mutations. New England Journal of Medicine. 2015 Oct 8;373(15):1429-1436. https://doi.org/10.1056/NEJMoa1504869
Teo, Ada E D ; Garg, Sumedha ; Shaikh, Lalarukh Haris ; Zhou, Junhua ; Frankl, Fiona E Karet ; Gurnell, Mark ; Happerfield, Lisa ; Marker, Alison ; Bienz, Mariann ; Elena Aisha, Azizan ; Brown, Morris J. / Pregnancy, primary aldosteronism, and adrenal CTNNB1 mutations. In: New England Journal of Medicine. 2015 ; Vol. 373, No. 15. pp. 1429-1436.
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