dc.contributor.author | Imran, SA | en_US |
dc.contributor.author | Aldahmani, KA | en_US |
dc.contributor.author | Penney, L | en_US |
dc.contributor.author | Croul, SE | en_US |
dc.contributor.author | Clarke, DB | en_US |
dc.contributor.author | Collier, DM | en_US |
dc.contributor.author | Iacovazzo, D | en_US |
dc.contributor.author | Korbonits, M | en_US |
dc.date.accessioned | 2019-11-27T11:56:22Z | |
dc.date.available | 2018-01-15 | en_US |
dc.date.issued | 2018 | en_US |
dc.identifier.issn | 2052-0573 | en_US |
dc.identifier.uri | https://qmro.qmul.ac.uk/xmlui/handle/123456789/61579 | |
dc.description | This is the peer reviewed version of the following article: Syed Ali, I., et al. (2018). "Unusual AIP mutation and phenocopy in the family of a young patient with acromegalic gigantism." Endocrinology, Diabetes & Metabolism Case Reports 2018., which has been published in final form at https://doi.org/10.1530/EDM-17-0092. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions | en_US |
dc.description.abstract | Early-onset acromegaly causing gigantism is often associated with aryl-hydrocarbon-interacting receptor protein (AIP) mutation, especially if there is a positive family history. A15y male presented with tiredness and visual problems. He was 201 cm tall with a span of 217 cm. He had typical facial features of acromegaly, elevated IGF-1, secondary hypogonadism and a large macroadenoma. His paternal aunt had a history of acromegaly presenting at the age of 35 years. Following transsphenoidal surgery, his IGF-1 normalized and clinical symptoms improved. He was found to have a novel AIP mutation destroying the stop codon c.991T>C; p.*331R. Unexpectedly, his father and paternal aunt were negative for this mutation while his mother and older sister were unaffected carriers, suggesting that his aunt represents a phenocopy. Learning points: Typical presentation for a patient with AIP mutation with excess growth and eunuchoid proportions.Unusual, previously not described AIP variant with loss of the stop codon.Phenocopy may occur in families with a disease-causing germline mutation. | en_US |
dc.language | eng | en_US |
dc.language.iso | en | en_US |
dc.relation.ispartof | Endocrinol Diabetes Metab Case Rep | en_US |
dc.rights | CC-BY-NC ND | |
dc.rights | Attribution-NonCommercial-NoDerivs 3.0 United States | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/us/ | * |
dc.title | Unusual AIP mutation and phenocopy in the family of a young patient with acromegalic gigantism. | en_US |
dc.type | Article | |
dc.identifier.doi | 10.1530/EDM-17-0092 | en_US |
pubs.author-url | https://www.ncbi.nlm.nih.gov/pubmed/29472986 | en_US |
pubs.notes | Not known | en_US |
pubs.publication-status | Published online | en_US |
pubs.volume | 2018 | en_US |
dcterms.dateAccepted | 2018-01-15 | en_US |
rioxxterms.funder | Default funder | en_US |
rioxxterms.identifier.project | Default project | en_US |