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Open access

Danielle R Bullock, Bradley S Miller, H Brent Clark and Patricia M Hobday

Summary

IgG4-related hypophysitis is an important diagnostic consideration in patients with a pituitary mass or pituitary dysfunction and can initially present with headaches, visual field deficits and/or endocrine dysfunction. Isolated IgG4-related pituitary disease is rare, with most cases of IgG4-related disease involving additional organ systems. We report the case of a teenage female patient with isolated IgG4-related hypophysitis, diagnosed after initially presenting with headaches. Our patient had no presenting endocrinologic abnormalities. She was treated with surgical resection, prednisolone and rituximab with no further progression of disease and sustained normal endocrine function. This case, the youngest described patient with isolated IgG4-related hypophysitis and uniquely lacking endocrinologic abnormalities, adds to the limited reports of isolated pituitary disease. The use of rituximab for isolated pituitary disease has never been described. While IgG4-related hypophysitis has been increasingly recognized, substantial evidence concerning the appropriate treatment and follow-up of these patients is largely lacking.

Learning points:

  • IgG4-related hypophysitis most often occurs in the setting of additional organ involvement but can be an isolated finding. This diagnosis should therefore be considered in a patient presenting with pituitary abnormalities.

  • Most patients with IgG4-related hypophysitis will have abnormal pituitary function, but normal functioning does not exclude this diagnosis.

  • Corticosteroids have been the mainstay of therapy for IgG4-related disease, with other immunosuppressive regimens being reserved for refractory cases. Further research is needed to understand the effectiveness of corticosteroid-sparing regimens and whether there is utility in using these agents as first-line therapies.

Open access

Athanasios Fountas, Shu Teng Chai, John Ayuk, Neil Gittoes, Swarupsinh Chavda and Niki Karavitaki

Summary

Co-existence of craniopharyngioma and acromegaly has been very rarely reported. A 65-year-old man presented with visual deterioration, fatigue and frontal headaches. Magnetic resonance imaging revealed a suprasellar heterogeneous, mainly cystic, 1.9 × 2 × 1.9 cm mass compressing the optic chiasm and expanding to the third ventricle; the findings were consistent with a craniopharyngioma. Pituitary hormone profile showed hypogonadotropic hypogonadism, mildly elevated prolactin, increased insulin-like growth factor 1 (IGF-1) and normal thyroid function and cortisol reserve. The patient had transsphenoidal surgery and pathology of the specimen was diagnostic of adamantinomatous craniopharyngioma. Post-operatively, he had diabetes insipidus, hypogonadotropic hypogonadism and adrenocorticotropic hormone and thyroid-stimulating hormone deficiency. Despite the hypopituitarism, his IGF-1 levels remained elevated and subsequent oral glucose tolerance test did not show complete growth hormone (GH) suppression. Further review of the pre-operative imaging revealed a 12 × 4 mm pituitary adenoma close to the right carotid artery and no signs of pituitary hyperplasia. At that time, he was also diagnosed with squamous cell carcinoma of the left upper lung lobe finally managed with radical radiotherapy. Treatment with long-acting somatostatin analogue was initiated leading to biochemical control of the acromegaly. Latest imaging has shown no evidence of craniopharyngioma regrowth and stable adenoma. This is a unique case report of co-existence of craniopharyngioma, acromegaly and squamous lung cell carcinoma that highlights diagnostic and management challenges. Potential effects of the GH hypersecretion on the co-existent tumours of this patient are also briefly discussed.

Learning points:

  • Although an extremely rare clinical scenario, craniopharyngioma and acromegaly can co-exist; aetiopathogenic link between these two conditions is unlikely.

  • Meticulous review of unexpected biochemical findings is vital for correct diagnosis of dual pituitary pathology.

  • The potential adverse impact of GH excess due to acromegaly in a patient with craniopharyngioma (and other neoplasm) mandates adequate biochemical control of the GH hypersecretion.

Open access

Ana G Ferreira, Tiago N Silva, Henrique V Luiz, Filipa D Campos, Maria C Cordeiro and Jorge R Portugal

Sellar plasmacytomas are rare and the differential diagnosis with non-functioning pituitary adenomas might be difficult because of clinical and radiological resemblance. They usually present with neurological signs and intact anterior pituitary function. Some may already have or eventually progress to multiple myeloma. We describe a case associated with extensive anterior pituitary involvement, which is a rare form of presentation. A 68-year-old man was referred to our Endocrinology outpatient clinic due to gynecomastia, reduced libido and sexual impotence. Physical examination, breast ultrasound and mammography confirmed bilateral gynecomastia. Blood tests revealed slight hyperprolactinemia, low testosterone levels, low cortisol levels and central hypothyroidism. Sellar MRI showed a heterogeneous sellar mass (56 × 60 × 61 mm), initially suspected as an invasive macroadenoma. After correcting the pituitary deficits with hydrocortisone and levothyroxine, the patient underwent transsphenoidal surgery. Histological examination revealed a plasmacytoma and multiple myeloma was ruled out. The patient was unsuccessfully treated with radiation therapy (no tumor shrinkage). Myeloma ultimately developed, with several other similar lesions in different locations. The patient was started on chemotherapy, had a bone marrow transplant and is now stable (progression free) on lenalidomide and dexamethasone. The presenting symptoms and panhypopituitarism persisted, requiring chronic replacement treatment with levothyroxine, hydrocortisone and testosterone.

Learning points:

  • Plasmacytomas, although rare, are a possible type of sellar masses, which have a completely different treatment approach, so it is important to make the correct diagnosis.

  • Usually, they present with neurological signs and symptoms and a well-preserved pituitary function, but our case shows that anterior pituitary function can be severely compromised.

  • Making a more extensive evaluation (clinical and biochemical) might provide some clues to this diagnosis.

Open access

Shinobu Takayasu, Shingo Murasawa, Satoshi Yamagata, Kazunori Kageyama, Takeshi Nigawara, Yutaka Watanuki, Daisuke Kimura, Takao Tsushima, Yoshiyuki Sakamoto, Kenichi Hakamada, Ken Terui and Makoto Daimon

Summary

Patients with Cushing’s syndrome and excess exogenous glucocorticoids have an increased risk for venous thromboembolism, as well as arterial thrombi. The patients are at high risk of thromboembolic events, especially during active disease and even in cases of remission and after surgery in Cushing’s syndrome and withdrawal state in glucocorticoid users. We present a case of Cushing’s syndrome caused by adrenocorticotropic hormone-secreting lung carcinoid tumor. Our patient developed acute mesenteric ischemia after video-assisted thoracoscopic surgery despite administration of sufficient glucocorticoid and thromboprophylaxis in the perioperative period. In addition, our patient developed hepatic infarction after surgical resection of the intestine. Then, the patient was supported by total parenteral nutrition. Our case report highlights the risk of microthrombi, which occurred in our patient after treatment of ectopic Cushing’s syndrome. Guidelines on thromboprophylaxis and/or antiplatelet therapy for Cushing’s syndrome are acutely needed.

Learning points:

  • The present case showed acute mesenteric thromboembolism and hepatic infarction after treatment of ectopic Cushing’s syndrome.

  • Patients with Cushing’s syndrome are at increased risk for thromboembolic events and increased morbidity and mortality.

  • An increase in thromboembolic risk has been observed during active disease, even in cases of remission and postoperatively in Cushing’s syndrome.

  • Thromboprophylaxis and antiplatelet therapy should be considered in treatment of glucocorticoid excess or glucocorticoid withdrawal.

Open access

Anne Soejbjerg, Suzan Dyve, Steen Baerentzen, Georg Thorsell, Per L Poulsen, Jens O L Jorgensen and Ulla Kampmann

Summary

Solitary sellar plasmacytomas are exceedingly rare and difficult to distinguish from other pituitary tumors. We report a case of a 62-year-old woman presenting with blurred vision of the right eye and tenderness of the right temporal region, which was interpreted as temporal arteritis. MRI revealed a pituitary mass lesion (20mm×14mm×17mm) without compression of the optic chiasm and her pituitary function was normal. Pituitary surgery was undertaken due to growth of the lesion, and histopathological examination showed a highly cellular neoplasm composed of mature monoclonal plasma cells. Subsequent examinations revealed no evidence of extrasellar myeloma. The patient received pituitary irradiation and has remained well and free of symptoms apart from iatrogenic central diabetes insipidus. Until now, only eight cases of solitary sellar plasmacytoma have been reported. Most frequent symptoms stem from compression of the cranial nerves in the cavernous sinus (III, IV, V), whereas the anterior pituitary function is mostly intact.

Learning points

  • A solitary plasmacytoma is a rare cause of a sellar mass lesion.

  • The radiological and clinical features are nonspecific, but cranial nerve affection and intact pituitary function are usually present.

  • The diagnosis is made histologically and has important therapeutic implications.

Open access

Taiba Zornitzki, Hadara Rubinfeld, Lyudmila Lysyy, Tal Schiller, Véronique Raverot, Ilan Shimon and Hilla Knobler

Summary

Acromegaly due to ectopic GHRH secretion from a neuroendocrine tumor (NET) is rare and comprises <1% of all acromegaly cases. Herein we present a 57-year-old woman with clinical and biochemical features of acromegaly and a 6 cm pancreatic NET (pNET), secreting GHRH and calcitonin. Following surgical resection of the pancreatic tumor, IGF1, GH and calcitonin normalized, and the clinical features of acromegaly improved. In vitro studies confirmed that the tumor secreted large amounts of both GHRH and calcitonin, and incubation of pNET culture-derived conditioned media stimulated GH release from a cultured human pituitary adenoma. This is a unique case of pNET secreting both GHRH and calcitonin. The ability of the pNET-derived medium to stimulate in vitro GH release from a human pituitary-cell culture, combined with the clinical and hormonal remission following tumor resection, confirmed the ectopic source of acromegaly in this patient.

Learning points

  • Signs, symptoms and initial work-up of acromegaly due to ectopic GHRH secretion are similar to pituitary-dependent acromegaly. However, if no identifiable pituitary lesion is found, somatostatin receptor scan and further imaging (CT, MRI) should be performed.

  • Detection of GHRH in the blood and in the tumor-derived medium supports the diagnosis of ectopic GHRH secretion.

  • Functional bioactivity of pNET-secreted GHRH can be proved in vitro by releasing GH from human pituitary cells.

Open access

Julien Ducry, Fulgencio Gomez, John O Prior, Ariane Boubaker, Maurice Matter, Matteo Monti, Yan Pu, Nelly Pitteloud and Luc Portmann

Summary

Ectopic ACTH Cushing's syndrome (EAS) is often caused by neuroendocrine tumors (NETs) of lungs, pancreas, thymus, and other less frequent locations. Localizing the source of ACTH can be challenging. A 64-year-old man presented with rapidly progressing fatigue, muscular weakness, and dyspnea. He was in poor condition and showed facial redness, proximal amyotrophy, and bruises. Laboratory disclosed hypokalemia, metabolic alkalosis, and markedly elevated ACTH and cortisol levels. Pituitary was normal on magnetic resonance imaging (MRI), and bilateral inferior petrosal sinus blood sampling with corticotropin-releasing hormone stimulation showed no significant central-to-periphery gradient of ACTH. Head and neck, thoracic and abdominal computerized tomography (CT), MRI, somatostatin receptor scintigraphy (SSRS), and 18F-deoxyglucose-positron emission tomography (FDG-PET) failed to identify the primary tumor. 18F-dihydroxyphenylalanine (F-DOPA)-PET/CT unveiled a 20-mm nodule in the jejunum and a metastatic lymph node. Segmental jejunum resection showed two adjacent NETs, measuring 2.0 and 0.5 cm with a peritoneal metastasis. The largest tumor expressed ACTH in 30% of cells. Following surgery, after a transient adrenal insufficiency, ACTH and cortisol levels returned to normal values and remain normal over a follow-up of 26 months. Small mid-gut NETs are difficult to localize on CT or MRI, and require metabolic imaging. Owing to low mitotic activity, NETs are generally poor candidates for FDG-PET, whereas SSRS shows poor sensitivity in EAS due to intrinsically low tumor concentration of type-2 somatostatin receptors (SST2) or to receptor down regulation by excess cortisol. However, F-DOPA-PET, which is related to amine precursor uptake by NETs, has been reported to have high positive predictive value for occult EAS despite low sensitivity, and constitutes a useful alternative to more conventional methods of tumor localization.

Learning points

  • Uncontrolled high cortisol levels in EAS can be lethal if untreated.

  • Surgical excision is the keystone of NETs treatment, thus tumor localization is crucial.

  • Most cases of EAS are caused by NETs, which are located mainly in the lungs. However, small gut NETs are elusive to conventional imaging and require metabolic imaging for detection.

  • FDG-PET, based on tumor high metabolic rate, may not detect NETs that have low mitotic activity. SSRS may also fail, due to absent or low concentration of SST2, which may be down regulated by excess cortisol.

  • F-DOPA-PET, based on amine-precursor uptake, can be a useful method to localize the occult source of ACTH in EAS when other methods have failed.

Open access

Despoina Manousaki, Cheri Deal, Jean Jacques De Bruycker, Philippe Ovetchkine, Claude Mercier and Nathalie Alos

Summary

Cystic sellar lesions are a rare cause of hypopituitarism and extremely rare in the pediatric age group. The differential diagnosis is large and includes both primary pituitary abscesses and cystic components on pre-existing lesions, such as adenoma, craniopharyngioma, Rathke's cleft cyst, leukemia, granulomatous disease and lymphocytic hypophysitis. In the absence of a definitive diagnosis, treatment can be challenging. We report a case of a 15-year-old female, who presented with headaches, altered consciousness and diplopia after a molar extraction, for which she had received oral antibiotics. Broad-spectrum i.v. antibiotics were given for presumed meningitis. Blood cultures failed to identify pathogens. Cerebral magnetic resonance imaging showed a pituitary cystic lesion. Endocrine studies revealed abnormal pituitary function. In the absence of a therapeutic response, the patient underwent a transsphenoidal biopsy of the pituitary gland, which yielded a purulent liquid, but cultures were negative. Histopathology showed lymphocytic infiltrates but no neutrophils, compatible with an inflammation of autoimmune or infectious origin. High-dose glucocorticoid therapy was started and pursued, along with i.v. antibiotics, for 6 weeks, leading to clinical and radiological improvement but with persistence of endocrine deficits. In conclusion, this is a case of secondary panhypopituitarism due to a cystic pituitary lesion, with a differential diagnosis of lymphocytic hypophysitis vs abscess in a context of decapitated meningitis. Combination therapy with antibiotics and glucocorticoids is a legitimate approach in the face of diagnostic uncertainty, given the morbidity, and even mortality, associated with these lesions.

Learning points

  • It is not always easy to differentiate primary cystic sellar lesions (such as a primary infectious pituitary abscess) from cystic components on pre-existing lesions (such as adenoma, craniopharyngioma, Rathke's cleft cyst, leukemia or lymphocytic hypophysitis).

  • Because of the absence of specific symptoms and of immunohistochemical and serum markers, response to glucocorticoids can be the only way to differentiate lymphocytic hypophysitis from pituitary lesions of another origin. In addition, microbiological cultures are negative in 50% of cases of primary infectious sellar abscesses, thus the response to antibiotic treatment is often the key element to this diagnosis.

  • A short course of high-dose glucocorticoids combined with antibiotics is not harmful in cases where there is no diagnostic certainty as to the origin of a cystic sellar mass, given the morbidity and mortality associated with these lesions.

  • This approach may also diminish inflammation of either infectious or autoimmune origin while ensuring that the most likely pathogens are being targeted.

Open access

Satoru Sakihara, Kazunori Kageyama, Satoshi Yamagata, Ken Terui, Makoto Daimon and Toshihiro Suda

Summary

ACTH-dependent Cushing's syndrome includes Cushing's disease and ectopic ACTH syndrome (EAS). The differential diagnosis of Cushing's disease from EAS in cases of ACTH-dependent Cushing's syndrome is a challenging problem. We report here a case of EAS with an unknown source of ACTH secretion. Extensive imaging procedures, involving computed tomography (neck to pelvis), pituitary magnetic resonance imaging, and whole-body 18F-fluorodeoxyglucose-positron emission tomography, failed to reveal the source of ACTH secretion. Intermittent administration of bromocriptine, a short-acting and nonselective dopamine agonist, has afforded adequate suppression of plasma ACTH and cortisol levels over the long term.

Learning points

  • Tumor excision is the primary treatment for EAS. However, when surgery is impossible, medical therapy is needed to treat hypercortisolism.

  • In cases where the source of ACTH secretion is unknown, inhibitors of steroidogenesis, such as metyrapone, mitotane, ketoconazole, and etomidate, are mostly used to suppress cortisol secretion.

  • Medications that suppress ACTH secretion are less effective, therefore less popular, as standard treatments.

  • In the present case, short-term treatment with dopamine agonists was effective for the long-term suppression of both ACTH and cortisol levels.