Unusual AIP mutation and phenocopy in the family of a young patient with acromegalic gigantism.
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Volume
2018
DOI
10.1530/EDM-17-0092
Journal
Endocrinol Diabetes Metab Case Rep
ISSN
2052-0573
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Show full item recordAbstract
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.
Authors
Imran, SA; Aldahmani, KA; Penney, L; Croul, SE; Clarke, DB; Collier, DM; Iacovazzo, D; Korbonits, MCollections
- Centre for Endocrinology [560]
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