Unusual AIP mutation and phenocopy in the family of a young patient with acromegalic gigantism. (9th February 2018)

• Record Type: Journal Article
• Authors: Imran, Syed Ali; Aldahmani, Khaled A; Penney, Lynette; Croul, Sidney E; Clarke, David B; Collier, David M; Iacovazzo, Donato; Korbonits, Márta
• Is Part Of: Endocrinology, diabetes & metabolism case reports. (2018)
• Publication Date: 2018-02-09
• Subjects: Adolescent/young adult -- Male -- American Indian or Alaska Native -- Canada; Pituitary -- Pituitary -- IGF1 -- Testosterone -- Thyroxine (T4) -- GH -- FSH -- LH -- Prolactin -- TSH -- Gigantism -- Acromegaly -- Hypogonadism -- Pituitary adenoma; Fatigue -- Visual impairment -- Hypogonadism -- Paraesthesia -- Scoliosis -- Leg pain -- Arthralgia -- Teeth gapping -- Face - coarse features -- Hemianopia -- Skin - texture change -- Prognathism -- IGF1 -- Weight -- Bone age -- LH -- Visual field assessment -- Cortisol (9am) -- FT4 -- GH -- FSH -- Testosterone -- MRI -- Glucose tolerance (oral) -- GH suppression -- Histopathology -- Immunohistochemistry -- Prolactin -- TSH -- Genetic analysis -- Molecular genetic analysis -- DNA sequencing -- Haematoxylin and eosin staining -- Transsphenoidal surgery -- Resection of tumour -- Thyroxine (T4) -- Testosterone -- Hydrocortisone -- Glucocorticoids; Error in diagnosis/pitfalls and caveats -- February -- 2018; Endocrinology -- Periodicals; Diabetes -- Periodicals; Diabetes Mellitus; Endocrinology; Diabetes; Endocrinology; Case Reports; Periodicals; Periodicals; 616.4
• DOI: 10.1530/EDM-17-0092
• Languages: English
• ISSNs: 2052-0573

Abstract

Summary: 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.