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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
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AIP mutations may be observed in sporadic somatotrope adenomas occurring in young patients.
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LOH is a strong indicator that an AIP variant is disease causing.
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Somatotrope adenomas in carriers of AIP mutations are generally larger and more difficult to cure.
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Search for other papers by Roberto Salvatori in
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Summary
Pheochromocytomas are rare adrenal tumors characterized by excessive catecholamine secretion. Symptoms and signs associated with pheochromocytomas are usually intermittent and chronic but can rarely develop into life-threatening crises. We describe a case of acute severe congestive heart failure in a previously healthy female, who recovered rapidly (4 days after admission) with acute medical therapy. The etiology on evaluation was a spontaneous bleed in a previously undiagnosed pheochromocytoma, resulting in a pheochromocytoma crisis and transient stress cardiomyopathy, followed by quick recovery of cardiac function. Our aim is to describe pheochromocytoma as a rare cause of stress cardiomyopathy. We discuss the evaluation of pheochromocytoma during critical illness and triggers/treatment strategies for pheochromocytoma crises.
Learning points
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Hemorrhage in a pheochromocytoma can result in a pheochromocytoma crisis, with sudden release of excess catecholamines resulting in multisystem organ dysfunction and high mortality.
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Acute decompensated heart failure can be a rare presentation of pheochromocytoma, in a patient with no cardiac risk factors.
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Measurement of metanephrines in acutely stressful clinical situations can have considerable overlap with the biochemical picture of pheochromocytoma. Early imaging studies may help with the differential diagnosis.
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Pheochromocytoma should be ruled out before performing an adrenal biopsy.
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Emergent adrenalectomy in pheochromocytoma crisis results in high mortality. Medical management of the acute crisis followed by elective adrenalectomy after alpha-blockade results in better outcomes.
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Summary
Pituitary adenomas are usually solitary lesions. Rarely, patients may present with two distinct pituitary tumors. We report a case of synchronous secretory pituitary adenomas in a woman who initially presented with elevated prolactin levels. She was initially treated with cabergoline, but, after many years, she began developing symptoms consistent with acromegaly. Imaging revealed two distinct tumors within the pituitary gland. Endocrinological investigation confirmed acromegaly. At the time of surgery, two separate tumors were identified and resected. Pathological analysis demonstrated one tumor as a prolactinoma, and the other tumor as a GH-secreting adenoma. Postoperatively, her GH and IGF1 levels normalized, while the prolactin level remained slightly above normal. This case highlights that GH and prolactin level elevation is not always from co-secretion by the same adenoma.
Learning points
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Synchronous pituitary adenomas represent <0.5% of pituitary tumors requiring surgery.
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In the setting of elevated GH and prolactin levels, one cannot assume that they are co-secreted by the same adenoma.
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A careful study of hormonal workup and pre-operative imaging is necessary for synchronous pituitary adenomas to assure resection of both tumors.
