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Diagnosis and Treatment > Signs and Symptoms

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  • Visual impairment x
  • Teeth gapping x
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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
Ekaterina Manuylova Department of Endocrinology, Diabetes and Metabolism

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Laura M Calvi Department of Endocrinology, Diabetes and Metabolism

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Catherine Hastings Department of Neurosurgery

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G Edward Vates Department of Neurosurgery

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Mahlon D Johnson Department of Pathology, University of Rochester, Rochester, New York, USA

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William T Cave Jr Department of Endocrinology, Diabetes and Metabolism

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Ismat Shafiq Department of Endocrinology, Diabetes and Metabolism

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Summary

Co-secretion of growth hormone (GH) and prolactin (PRL) from a single pituitary adenoma is common. In fact, up to 25% of patients with acromegaly may have PRL co-secretion. The prevalence of acromegaly among patients with a newly diagnosed prolactinoma is unknown. Given the possibility of mixed GH and PRL co-secretion, the current recommendation is to obtain an insulin-like growth factor-1 (IGF-1) in patients with prolactinoma at the initial diagnosis. Long-term follow-up of IGF-1 is not routinely done. Here, we report two cases of well-controlled prolactinoma on dopamine agonists with the development of acromegaly 10–20 years after the initial diagnoses. In both patients, a mixed PRL/GH-cosecreting adenoma was confirmed on the pathology examination after transsphenoidal surgery (TSS). Therefore, periodic routine measurements of IGF-1 should be considered regardless of the duration and biochemical control of prolactinoma.

Learning points:

  • Acromegaly can develop in patients with well-controlled prolactinoma on dopamine agonists.

  • The interval between prolactinoma and acromegaly diagnoses can be several decades.

  • Periodic screening of patients with prolactinoma for growth hormone excess should be considered and can 
lead to an early diagnosis of acromegaly before the development of complications.

Taxonomy:
Clinical Overview, Gland/Organ, Pituitary, Topic, Pituitary, Hormone, GH, IGF1, Prolactin, Condition/ Syndrome, Acromegaly, Hyperprolactinaemia, Microadenoma, Pituitary adenoma, Prolactinoma, Patient Demographics, Age, Adult, Gender, Female, Ethnicity, Black - African, White, Diagnosis and Treatment, Signs and Symptoms, Acne, Acrochorda, Arthralgia, Carpal tunnel syndrome, Face - coarse features, Glucose intolerance, Headache, Heat intolerance, Hirsutism, Hyperprolactinaemia, Hypertension, Nose - thickening, Polyuria, Teeth gapping, Visual impairment, Investigation, GH, Glucose suppression test, Glucose tolerance, IGF1, Immunohistochemistry, MRI, Prolactin, Intervention, Transsphenoidal surgery, Medication, Bromocriptine, Cabergoline, Dopamine agonists, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-16-0069
Volume/Issue:
Volume 2016: Issue 1
Open access