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Diagnosis and Treatment > Signs and Symptoms

You are looking at 1 - 2 of 2 items for :

  • Bitemporal hemianopsia x
  • Visual disturbance x
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Stephanie Teasdale Department of Diabetes and Endocrinology, Princess Alexandra Hospital, Brisbane, Queensland, Australia

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Fahid Hashem Department of Diabetes and Endocrinology, Princess Alexandra Hospital, Brisbane, Queensland, Australia

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Sarah Olson Department of Neurosurgery, Princess Alexandra Hospital, Brisbane, Queensland, Australia

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Benjamin Ong Department of Radiology, Princess Alexandra Hospital, Brisbane, Queensland, Australia

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Warrick J Inder Department of Diabetes and Endocrinology, Princess Alexandra Hospital, Brisbane, Queensland, Australia
School of Medicine, The University of Queensland, Brisbane, Queensland, Australia

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Summary

A case of recurrent pituitary apoplexy is described in a 72-year-old man who initially presented with haemorrhage in a non-functioning pituitary adenoma. Five years later, he re-presented with a severe pituitary haemorrhage in an enlarging sellar mass invading both cavernous sinuses causing epistaxis and bilateral ocular paresis. Subsequent histology was consistent with a sellar malignant spindle and round cell neoplasm. Multiple pituitary tumours have previously been reported to coexist in the same individual, but to our knowledge this is the only case where two pathologically distinct pituitary neoplasms have sequentially arisen in a single patient. This case is also notable with respect to the progressive ocular paresis, including bilateral abducens nerve palsies, and the presentation with epistaxis.

Learning points

  • Ocular paresis in pituitary apoplexy can result from tumour infiltration of nerves, or by indirect compression via increased intrasellar pressure.

  • Epistaxis is a very rare presentation of a pituitary lesion.

  • Epistaxis more commonly occurs following trans-sphenoidal surgery, and can be delayed.

Taxonomy:
Clinical Overview, Gland/Organ, Pituitary, Topic, Pituitary, Hormone, Cortisol, FSH, GH, Glucocorticoids, IGF1, LH, Prolactin, Testosterone, Thyroxine (T4), Triiodothyronine (T3), TSH, Condition/ Syndrome, Pituitary apoplexy, Pituitary haemorrhage, Pituitary tumour (malignant), Patient Demographics, Age, Geriatric, Gender, Male, Ethnicity, White, Country of Treatment, Australia, Diagnosis and Treatment, Signs and Symptoms, Bitemporal hemianopsia, Diplopia, Epistaxis, Headache, Hemianopia, Hypogonadism, Hypoprolactinaemia, Nausea, Ptosis, Sixth nerve palsy, Visual disturbance, Vomiting, Investigation, Cortisol (serum), FSH, FT3, FT4, GH, Haemoglobin, Histopathology, IGF1, LH, MRI, Prolactin, Testosterone, TSH, Visual field assessment, Intervention, Radiotherapy, Transsphenoidal surgery, Medication, Testosterone, Related Disciplines, Oncology, Ophthalmology, Otolaryngology, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-14-0088
Volume/Issue:
Volume 2015: Issue 1
Open access
Roberto Salvatori Division of Endocrinology, Diabetes and Metabolism, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

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Adrian F Daly Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium

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Alfredo Quinones-Hinojosa Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

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Albert Thiry Department of Pathology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium

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Albert Beckers Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium

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Summary

Heterozygous germline inactivating mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene lead to pituitary adenomas that most frequently present in the setting of familial isolated pituitary adenoma syndrome, usually as somatotropinomas and prolactinomas. More recently, they have been found in a significant percentage of young patients presenting with pituitary macroadenoma without any apparent family history. We describe the case of a 19-year-old man who presented with a gigantic somatotropinoma. His family history was negative. His peripheral DNA showed a heterozygous AIP mutation (p.I13N), while tumor tissue only had the mutated allele, showing loss of heterozygosity (LOH) and suggesting that the mutation caused the disease.

Learning points

  • AIP mutations may be observed in sporadic somatotrope adenomas occurring in young patients.

  • LOH is a strong indicator that an AIP variant is disease causing.

  • Somatotrope adenomas in carriers of AIP mutations are generally larger and more difficult to cure.

Taxonomy:
Clinical Overview, Gland/Organ, Pituitary, Topic, Pituitary, Hormone, GH, Prolactin, Condition/ Syndrome, Acromegaly, AIP gene mutation, Gigantism, Pituitary adenoma, Somatotrophic adenoma, Patient Demographics, Age, Adolescent/young adult, Gender, Male, Ethnicity, White, Country of Treatment, United States, Diagnosis and Treatment, Signs and Symptoms, Bitemporal hemianopsia, Headache, Optic atrophy, Sweating, Visual disturbance, Investigation, FSH, Genetic analysis, IGF1, LH, MRI, Prolactin, Testosterone, Intervention, Pituitary adenomectomy, Transsphenoidal surgery, Related Disciplines, Genetics, Publication Details, Case Report Type, Insight into disease pathogenesis or mechanism of therapy
DOI:
https://doi.org/10.1530/EDM-14-0048
Volume/Issue:
Volume 2014: Issue 1
Open access