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Vahab Fatourechi Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Mayo Clinic, Rochester, Minnesota, USA

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Amy A Swanson Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA

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Robert A Lee Department of Radiology, Mayo Clinic, Rochester, Minnesota, USA

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Summary

We report the case of a male patient with papillary thyroid cancer, familial thoracic aortic aneurysm and dissection, and a variation in the MYH11 gene. Because of considerable tumor bulk in the neck that was not resectable, the patient underwent partial resection at age 14 years. Since then, the patient has received only suppressive thyroid hormone therapy. He is now 71 years old, which is 57 years after the initial resection. The patient received care at our institution from July 2009 to August 2019, during which we documented the stability of multiple calcified masses in the neck. Follow-up examinations at another institution from September 2019 to April 2023 also confirmed the stability of the masses. The underlying cause of this unusually long indolent course of the disease is unclear. Whether extensive tumor calcifications or the MYH11 sequence variation contributed to the disease course is also uncertain.

Learning points

  • Papillary thyroid cancer with neck metastases may, in some cases, be stable and remain asymptomatic for decades.

  • If locoregional stability of papillary thyroid cancer is documented for many years, observation may be preferable to extensive neck surgery in selected cases.

  • This is the first report of an MYH11 gene alteration and thoracic aortic aneurysm in a patient with papillary thyroid cancer with indolent neck metastases.

  • Future studies of MYH11 gene alterations in thyroid carcinoma are needed.

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John J Orrego Department of Endocrinology and Metabolism, Kaiser Foundation Health Plan of Colorado, Denver, Colorado, USA

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Joseph A Chorny Department of Pathology, Kaiser Foundation Health Plan of Colorado, Denver, Colorado, USA

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Summary

Unlike medullary thyroid carcinomas, follicular cell-derived thyroid malignancies have rarely been associated with paraneoplastic endocrine syndromes. An ultrarare case of a middle-aged man with heavily treated broadly metastatic radioactive iodine-refractory widely invasive Hürthle cell carcinoma (HCC) of the thyroid with two synchronous paraneoplastic endocrine syndromes, T3 thyrotoxicosis and hypercalcemia of malignancy, is discussed here. The levothyroxine-induced T3 thyrotoxicosis was a gradual process that became more noticeable as the tumor burden, refractory to different modalities of therapy, expanded. The 1,25-dihydroxyvitamin-D-mediated hypercalcemia, on the other hand, developed in a manner of weeks, as it usually happens. It is important to emphasize that in patients with metastatic Hürthle cell and follicular carcinomas of the thyroid, on TSH suppressive therapy, the unexplained and progressive decline in FT4 and rise in FT3 levels, resulting in an elevated FT4/FT3 ratio, could be an indication of augmented type 1 (D1) and/or type 2 (D2) deiodinase expression in tumoral tissue, causing an increased conversion from the prohormone T4 into the active metabolite T3 via outer ring deiodination.

Learning points

  • Albeit extremely rare, some patients with thyroid cancer can present with more than one concomitant paraneoplastic syndrome.

  • Although medullary thyroid carcinoma is the thyroid malignancy that is usually associated with paraneoplastic endocrine syndromes, follicular cell-derived thyroid cancers have been rarely described as being the culprit.

  • In patients with metastatic Hürthle cell and follicular thyroid carcinomas, the unexplained and progressive decline in FT4 and rise in FT3 levels could be an indication of augmented type 1 (D1) and/or type 2 (D2) deiodinase expression in tumoral tissue, causing an increased conversion from T4 into T3 leading to T3 thyrotoxicosis.

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Salman Zahoor Bhat Division of Endocrinology, Department of Medicine, Diabetes and Metabolism, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

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Amir H Hamrahian Division of Endocrinology, Department of Medicine, Diabetes and Metabolism, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

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Yubo Wu Division of Urologic Pathology, Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, USA

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Misop Han Department of Urology, The Johns Hopkins University School of Medicine, Baltimore, USA

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Roberto Salvatori Division of Endocrinology, Department of Medicine, Diabetes and Metabolism, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

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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

  • Hemorrhage in a pheochromocytoma can result in a pheochromocytoma crisis, with sudden release of excess catecholamines resulting in multisystem organ dysfunction and high mortality.

  • Acute decompensated heart failure can be a rare presentation of pheochromocytoma, in a patient with no cardiac risk factors.

  • 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.

  • Pheochromocytoma should be ruled out before performing an adrenal biopsy.

  • 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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Lakshmi Menon Division of Endocrinology and Metabolism, Department of Internal Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA

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Dinesh Edem Division of Endocrinology and Metabolism, Department of Internal Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA

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Jhansi Maradana Division of Endocrinology, Mass General Brigham Wentworth Douglass Hospital, Dover, New Hampshire, USA

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Pranjali Sharma Department of Endocrinology, Diabetes and Metabolism, Parkview Health System, Pueblo, Colorado, USA

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Shrikant Tamhane Division of Endocrinology and Metabolism, Baptist Health, North Little Rock, Arkansas, USA

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Summary

New-onset primary adrenal insufficiency is rare in pregnancy. The symptoms of adrenal insufficiency such as nausea, vomiting and dizziness may be attributed to the pregnancy itself, which can lead to a delay in the diagnosis. The presence of hypotension, hypoglycemia or hyperkalemia should raise the suspicion for adrenal insufficiency. We report the case of a 25-year-old woman who presented with tachycardia, left flank pain and vomiting at 36 weeks’ gestation. She was found to have primary adrenal insufficiency and started on hydrocortisone and fludrocortisone with resolution of the vomiting and tachycardia. MRI of the abdomen revealed an acute nonhemorrhagic infarct of the left adrenal gland. The contralateral adrenal gland was normal. Autoimmune and infectious etiologies of primary adrenal insufficiency were ruled out and the adrenal insufficiency was attributed to the unilateral adrenal infarction. Adrenal insufficiency persisted after delivery and then resolved at approximately 16 months post partum. This case highlights the need to test women with unilateral adrenal infarction in pregnancy for the presence of primary adrenal insufficiency.

Learning points

  • Adrenal insufficiency should be considered when a pregnant woman develops nausea, vomiting and dizziness in association with hypotension or hypoglycemia. Hypovolemic hyponatremia related to vomiting can occur in pregnancy, but the failure to correct hyponatremia despite adequate IV hydration should raise the suspicion for adrenal insufficiency.

  • Adrenal infarction should be in the differential diagnosis for unilateral flank pain in pregnancy. Other common etiologies for flank pain in pregnancy include nephrolithiasis, pyelonephritis and acute cholecystitis.

  • Unilateral adrenal infarction in pregnancy can lead to the development of primary adrenal insufficiency. Following delivery, these patients need to be monitored for the resolution of the adrenal insufficiency.

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Erica A Steen University of California, San Diego, San Diego, California, USA

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Mary E Patterson University of California, San Diego, San Diego, California, USA
Rady Children’s Hospital, Department of Pediatrics, University of California, San Diego, California, USA

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Michelle Rivera-Vega Rady Children’s Hospital, Department of Pediatrics, University of California, San Diego, California, USA

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Susan A Phillips University of California, San Diego, San Diego, California, USA
Rady Children’s Hospital, Department of Pediatrics, University of California, San Diego, California, USA

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Summary

An 11-year-old girl with past medical history of septic shock and multi-organ failure at age 5 presented to her primary care doctor with concern for pallor of the lips. Laboratory studies demonstrated low free thyroxine (T4) and normal thyroid-stimulating hormone (TSH). A referral to endocrinology was made where the patient was evaluated, and laboratory evaluation was repeated. The patient was asymptomatic and clinically euthyroid with a height consistent with her mid-parental height and was in mid- to late-puberty. The repeated laboratory evaluation demonstrated a pattern suggestive of primary hypothyroidism with low free T4 and an elevated TSH. However, the magnitude of elevation of TSH was less than expected, given the degree of lowering of free T4; therefore, central hypothyroidism was considered. Workup was initiated, and laboratory studies and MRI imaging confirmed an underlying diagnosis of panhypopituitarism in the setting of pituitary stalk interruption syndrome.

Learning points

  • Pituitary stalk interruption syndrome is a rare but important cause of panhypopituitarism.

  • Central hypothyroidism should be suspected in patients with low free thyroxine with an inappropriate degree of elevation of thyroid-stimulating hormone.

  • Workup of central hypothyroidism should include multi-pituitary hormone assessment, and, if evident, MRI imaging should be done.

  • Adrenal insufficiency should be suspected in a hypotensive, critically ill patient who is failing to improve on standard-of-care therapy.

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Nam Quang Tran Department of Endocrinology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam
Department of Endocrinology, University Medical Center at Ho Chi Minh City, Ho Chi Minh City, Vietnam

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Chien Cong Phan Department of Imaging, University Medical Center at Ho Chi Minh City, Ho Chi Minh City, Vietnam

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Tran Bao Vuong Department of Endocrinology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam

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Thang Viet Tran Department of Endocrinology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam
Department of Endocrinology, University Medical Center at Ho Chi Minh City, Ho Chi Minh City, Vietnam

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Phat Tung Ma Department of Endocrinology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam
Department of Endocrinology, University Medical Center at Ho Chi Minh City, Ho Chi Minh City, Vietnam

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Summary

Mitochondrial diseases are a group of rare diseases presenting with heterogeneous clinical, biochemical, and genetic disorders caused by mutations in the mitochondrial or nuclear genome. Multiple organs can be affected, particularly those with high energy demand. Diabetes is a common endocrine manifestation of mitochondrial diseases. The onset of mitochondrial diabetes can be latent or acute, and the presenting phenotype can be type 1- or type 2-like. Studies show that diabetes ais associated with latent progression of cognitive decline in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. Herein, we report a case of rapid cognitive decline after the acute onset of diabetes in a patient with MELAS syndrome. The patient was a 36-year-old woman who was hospitalized due to hyperglycemic crisis and seizures. She was diagnosed with MELAS syndrome two years previously, and had gradually progressing dementia and hearing loss. However, following the acute onset of diabetes, she developed rapid cognitive decline and loss of ability to perform daily activities. In conclusion, the acute onset of diabetes could be an associated risk factor for rapid cognitive decline in patients with MELAS syndrome. Thus, these patients as well as healthy carriers with related genetic mutations should undergo diabetes education and screening tests. Moreover, clinicians should be aware of the possibility for acute onset of hyperglycemic crisis, particularly in the presence of triggering factors.

Learning points

  • Diabetes is a common endocrine manifestation of mitochondrial diseases, presenting with a type 1- or type 2-like phenotype depending on the level of insulinopenia.

  • Metformin should be avoided in patients with mitochondrial diseases to prevent metformin-induced lactic acidosis.

  • Mitochondrial diabetes can manifest before or after the onset of MELAS syndrome.

  • In patients with MELAS syndrome, diabetes can initially manifest with a life-threatening severe hyperglycemic crisis and can cause rapid cognitive decline.

  • Diabetes screening tests (e.g. hemoglobin A1c, oral glucose tolerance test, or random blood glucose level measurement) should be performed either systematically or in the presence of symptoms, particularly after triggering events.

  • Genetic testing and counseling should be provided to patients and their families for the purpose of better understanding the inheritance, progression, and possible outcomes of the disease.

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