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dc.contributor.authorMarques, Pen_US
dc.contributor.authorSpencer, Ren_US
dc.contributor.authorMorrison, PJen_US
dc.contributor.authorCarr, IMen_US
dc.contributor.authorDang, MNen_US
dc.contributor.authorBonthron, DTen_US
dc.contributor.authorHunter, Sen_US
dc.contributor.authorKorbonits, Men_US
dc.date.accessioned2018-02-06T09:41:04Z
dc.date.available2017-12-18en_US
dc.date.issued2018-03en_US
dc.date.submitted2018-02-01T06:51:26.326Z
dc.identifier.urihttp://qmro.qmul.ac.uk/xmlui/handle/123456789/32045
dc.description.abstractCONTEXT: Pseudoacromegaly describes conditions with an acromegaly related physical appearance without abnormalities in the growth hormone (GH) axis. Acromegaloid facies, together with hypertrichosis, are typical manifestations of Cantú syndrome. CASE DESCRIPTION: We present a three-generation family with 5 affected members, with marked acromegaloid facies and prominent hypertrichosis, due to a novel missense variant in the ABCC9 gene. The proband, a 2-year-old girl, was referred due to marked hypertrichosis, noticed soon after birth, associated with coarsening of her facial appearance. Her endocrine assessment, including of the GH axis, was normal. The proband's father, paternal aunt, and half-sibling were referred to the Endocrine department for exclusion of acromegaly. Although the GH axis was normal in all, two subjects had clinically non-functioning pituitary macroadenomas, a feature which has not previously been associated with Cantú syndrome. CONCLUSIONS: Activating mutations in the ABCC9 and, less commonly, KCNJ8 genes-representing the two subunits of the ATP-sensitive potassium channel-have been linked with Cantú syndrome. Interestingly, minoxidil, a well-known ATP-sensitive potassium channel agonist, can cause a similar phenotype. There is no clear explanation why activating this channel would lead to acromegaloid features or hypertrichosis. This report raises awareness for this complex condition, especially for adult or pediatric endocrinologists who might see these patients referred for evaluation of acromegaloid features or hirsutism. The link between Cantú syndrome and pituitary adenomas is currently unclear.en_US
dc.description.sponsorshipP.M. is supported by Barts and The London Charity Clinical Research Training Fellowship. M.K. has Medical Research Council (UK) support to study familial isolated pituitary adenomas. We are grateful to Professor Ashley Grossman for the review of the manuscript.en_US
dc.format.extent677 - 684en_US
dc.languageengen_US
dc.language.isoenen_US
dc.relation.ispartofEndocrineen_US
dc.rightsThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
dc.subjectABCC9en_US
dc.subjectCantú syndromeen_US
dc.subjectfamiliar pituitary adenomaen_US
dc.subjectpseudoacromegalyen_US
dc.subjectAdenomaen_US
dc.subjectAdulten_US
dc.subjectCardiomegalyen_US
dc.subjectChild, Preschoolen_US
dc.subjectFemaleen_US
dc.subjectHumansen_US
dc.subjectHypertrichosisen_US
dc.subjectMagnetic Resonance Imagingen_US
dc.subjectMaleen_US
dc.subjectMiddle Ageden_US
dc.subjectMutation, Missenseen_US
dc.subjectOsteochondrodysplasiasen_US
dc.subjectPituitary Neoplasmsen_US
dc.subjectSulfonylurea Receptorsen_US
dc.subjectYoung Adulten_US
dc.titleCantú syndrome with coexisting familial pituitary adenoma.en_US
dc.typeArticle
dc.rights.holder© The Author(s) 2018
dc.identifier.doi10.1007/s12020-017-1497-9en_US
pubs.author-urlhttps://www.ncbi.nlm.nih.gov/pubmed/29327300en_US
pubs.issue3en_US
pubs.notesNo embargoen_US
pubs.publication-statusPublisheden_US
pubs.volume59en_US
dcterms.dateAccepted2017-12-11en_US


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