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Diagnosis and Treatment > Signs and Symptoms

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Syed Ali Imran Division of Endocrinology and Metabolism, Dalhousie University, Halifax, Nova Scotia, Canada

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Khaled A Aldahmani Division of Endocrinology, Tawam Hospial, Al-Ain, UAE

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Lynette Penney Department of Pediatrics, Tawam Hospial, Al-Ain, UAE

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Sidney E Croul Department of Pathology, Tawam Hospial, Al-Ain, UAE

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David B Clarke Department of Neurosurgery, Dalhousie University, Halifax, Nova Scotia, Canada

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David M Collier Centre for Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, London, UK

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Donato Iacovazzo Centre for Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, London, UK

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Márta Korbonits Centre for Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, London, UK

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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.

Taxonomy:
Clinical Overview, Gland/Organ, Pituitary, Topic, Pituitary, Hormone, Dihydrotestosterone, FSH, GH, IGF1, LH, Prolactin, Thyroxine (T4), TSH, Condition/ Syndrome, Acromegaly, Gigantism, Hypogonadism, Pituitary adenoma, Patient Demographics, Age, Adolescent/young adult, Gender, Male, Ethnicity, American Indian or Alaska Native, Country of Treatment, Canada, Diagnosis and Treatment, Signs and Symptoms, Arthralgia, Face - coarse features, Fatigue, Hemianopia, Hypogonadism, Leg pain, Paraesthesia, Prognathism, Scoliosis, Skin - texture change, Teeth gapping, Visual impairment, Investigation, Bone age, Cortisol (9am), DNA sequencing, FSH, FT4, Genetic analysis, GH, GH suppression, Glucose tolerance (oral), Haematoxylin and eosin staining, Histopathology, IGF1, Immunohistochemistry, LH, Molecular genetic analysis, MRI, Prolactin, Testosterone, TSH, Visual field assessment, Weight, Intervention, Resection of tumour, Transsphenoidal surgery, Medication, Glucocorticoids, Hydrocortisone, Testosterone, Thyroxine (T4), Publication Details, Case Report Type, Error in diagnosis/pitfalls and caveats
DOI:
https://doi.org/10.1530/EDM-17-0092
Volume/Issue:
Volume 2018: Issue 1
Open access