Diagnosis and Treatment > Signs and Symptoms

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Anna Popławska-Kita Departments of Endocrinology, Diabetology and Internal Medicine

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Marta Wielogórska Departments of Endocrinology, Diabetology and Internal Medicine

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Łukasz Poplawski Radiology, Medical University of Bialystok, Bialystok, Poland

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Katarzyna Siewko Departments of Endocrinology, Diabetology and Internal Medicine

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Agnieszka Adamska Departments of Endocrinology, Diabetology and Internal Medicine

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Piotr Szumowski Departments of Nuclear Medicine, Medical University of Bialystok, Bialystok, Poland

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Piotr Myśliwiec 1st Clinic Department of General and Endocrine Surgery, Medical University of Bialystok, Bialystok, Poland

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Janusz Myśliwiec Departments of Nuclear Medicine, Medical University of Bialystok, Bialystok, Poland

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Joanna Reszeć Departments of Medical Pathomorphology, Medical University of Bialystok, Bialystok, Poland

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Grzegorz Kamiński Department of Endocrinology and Radioisotopy Therapy, Military Institute of Medicine, Warsaw, Poland

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Janusz Dzięcioł Departments of Human Anatomy, Medical University of Bialystok, Bialystok, Poland

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Dorota Tobiaszewska Departments of Endocrinology, Diabetology and Internal Medicine

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Małgorzata Szelachowska Departments of Endocrinology, Diabetology and Internal Medicine

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Adam Jacek Krętowski Departments of Endocrinology, Diabetology and Internal Medicine

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Summary

Papillary thyroid gland carcinoma is the most common type of malignancy of the endocrine system. Metastases to the pituitary gland have been described as a complication of papillary thyroid cancer in few reported cases since 1965. We report the case of a 68-year-old female patient with a well-differentiated form of thyroid gland cancer. Despite it being the most common malignant cancer of the endocrine system, with its papillary form being one of the two most frequently diagnosed thyroid cancers, the case we present is extremely rare. Sudden cardiac arrest during ventricular fibrillation occurred during hospitalization. Autopsy of the patient revealed papillary carcinoma of the thyroid, follicular variant, with metastasis to the sella turcica, and concomitant sarcoidosis of heart, lung, and mediastinal and hilar lymph nodes. Not only does atypical metastasis make our patient’s case most remarkable, but also the postmortem diagnosis of sarcoidosis makes her case particularly unusual.

Learning points:

  • The goal of presenting this case is to raise awareness of the clinical heterogeneity of papillary cancer and promote early diagnosis of unexpected metastasis and coexisting diseases to improve clinical outcomes.

  • Clinicians must be skeptical. They should not fall into the trap of diagnostic momentum or accept diagnostic labels at face value. Regardless of the potential mechanisms, clinicians should be aware of the possibility of the coexistence of thyroid cancer and sarcoidosis as a differential diagnosis of lymphadenopathy.

  • This case highlights the importance of the diagnostic and therapeutic planning process and raises awareness of the fact that one uncommon disease could be masked by another extremely rare disorder.

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Su Ann Tee Department of Endocrinology, Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK

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Earn Hui Gan Department of Endocrinology, Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK
Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, UK

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Mohamad Zaher Kanaan Departments of Ophthalmology, Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK

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David Ashley Price Departments of Infectious Disease and Tropical Medicine, Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK

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Tim Hoare Radiology, Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK

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Simon H S Pearce Department of Endocrinology, Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK
Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, UK

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Summary

Primary adrenal insufficiency secondary to syphilis is extremely rare, with only five cases being reported in the literature. We report a case of adrenal insufficiency as a manifestation of Treponema pallidum infection (tertiary syphilis). A 69-year-old, previously fit and well Caucasian male was found to have adrenal insufficiency after being admitted with weight loss, anorexia and postural dizziness resulting in a fall. Biochemical testing showed hyponatraemia, hyperkalaemia, and an inadequate response to Synacthen testing, with a peak cortisol level of 302 nmol/L after administration of 250 µg Synacthen. Abdominal imaging revealed bilateral adrenal hyperplasia with inguinal and retroperitoneal lymphadenopathy. He was started on hydrocortisone replacement; however, it was not until he re-attended ophthalmology with a red eye and visual loss 1 month later, that further work-up revealed the diagnosis of tertiary syphilis. Following a course of penicillin, repeat imaging 5 months later showed resolution of the abnormal radiological appearances. However, adrenal function has not recovered and 3 years following initial presentation, the patient remains on both glucocorticoid and mineralocorticoid replacement. In conclusion, this case highlights the importance of considering syphilis as a potential differential diagnosis in patients presenting with adrenal insufficiency and bilateral adrenal masses, given the recent re-emergence of this condition. The relative ease of treating infectious causes of adrenal lesions makes accurate and timely diagnosis crucial.

Learning points:

  • Infectious causes, including syphilis, should be excluded before considering adrenalectomy or biopsy for any patient presenting with an adrenal mass.

  • It is important to perform a full infection screen including tests for human immunodeficiency virus, other blood-borne viruses and concurrent sexually transmitted diseases in patients presenting with bilateral adrenal hyperplasia with primary adrenal insufficiency.

  • Awareness of syphilis as a potential differential diagnosis is important, as it not only has a wide range of clinical presentations, but its prevalence has been increasing in recent times.

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Siew Hui Foo
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Shahada A H Sobah Department of Haematology, Ampang Hospital, Selangor, Malaysia

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Summary

Hypopituitarism is a rare presentation of Burkitt's lymphoma (BL). The purpose of this report is to present a case of BL presenting with panhypopituitarism and to review other case reports of lymphoma presenting with pituitary dysfunction to highlight the distinguishing features of these cases from other benign aetiologies of pituitary dysfunction such as non-functioning pituitary adenomas. We reviewed a total of 11 cases of lymphoma presenting with pituitary dysfunction published from 1998 to 2013 including the present case. The demographics, clinical presentations, laboratory features, radiological findings, histological diagnosis, treatment administered and outcomes were described. Of the total number of patients, 45.5% of the cases had diffuse large B-cell lymphoma while 27.3% had BL. Anterior pituitary dysfunction was more common than posterior pituitary dysfunction at presentation. The other common associated presenting symptoms were painful ophthalmoplegia, cranial nerve palsies and constitutional symptoms. Hypothalamic–pituitary abnormalities were often demonstrated radiologically to be associated with cavernous sinus and/or stalk involvement. All patients who completed immunochemotherapy responded haematologically. Pituitary dysfunction also improved in most cases although the recovery tended to be partial. In conclusion, a high index of suspicion of underlying malignancy, such as lymphoma, should be present in patients presenting with acute pituitary dysfunction associated with painful ophthalmoplegia, rapidly evolving neurological features, radiological features atypical of a pituitary adenoma and constitutional symptoms. An early diagnosis is essential as prompt initiation of definitive therapy will induce disease remission and recovery of pituitary dysfunction.

Learning points

  • Hypopituitarism may be the presenting symptom of lymphoma in the absence of associated overt symptoms or signs of a haematological malignancy resulting in delay in diagnosis and institution of treatment.

  • Pituitary dysfunction due to tumour infiltration has a greater tendency to involve the posterior pituitary and infundibulum resulting in diabetes insipidus and hyperprolactinaemia compared with a non-functioning pituitary adenoma.

  • The common associated symptoms of hypopituitarism due to lymphoma infiltration of the hypothalamic–pituitary system include painful ophthalmoplegia, cranial nerve palsies and constitutional symptoms.

  • Radiological abnormalities of the hypothalamic–pituitary region are usually present and often associated with cavernous sinus or stalk involvement.

  • With early institution of definitive treatment, both haematological response and improvement of pituitary dysfunction are expected although the reversal of hypopituitarism tends to be partial and delayed.

  • A high index of suspicion of underlying malignancy such as lymphoma should be present in patients presenting with acute pituitary dysfunction associated with painful ophthalmoplegia, radiological features atypical of pituitary adenomas and constitutional symptoms to enable early diagnosis and prompt initiation of definitive therapy.

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