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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
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
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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.
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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.
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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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Rady Children’s Hospital, Department of Pediatrics, University of California, San Diego, California, USA
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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
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Pituitary stalk interruption syndrome is a rare but important cause of panhypopituitarism.
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Central hypothyroidism should be suspected in patients with low free thyroxine with an inappropriate degree of elevation of thyroid-stimulating hormone.
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Workup of central hypothyroidism should include multi-pituitary hormone assessment, and, if evident, MRI imaging should be done.
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Adrenal insufficiency should be suspected in a hypotensive, critically ill patient who is failing to improve on standard-of-care therapy.
Department of Endocrinology, University Medical Center at Ho Chi Minh City, Ho Chi Minh City, Vietnam
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Department of Endocrinology, University Medical Center at Ho Chi Minh City, Ho Chi Minh City, Vietnam
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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
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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.
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Metformin should be avoided in patients with mitochondrial diseases to prevent metformin-induced lactic acidosis.
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Mitochondrial diabetes can manifest before or after the onset of MELAS syndrome.
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In patients with MELAS syndrome, diabetes can initially manifest with a life-threatening severe hyperglycemic crisis and can cause rapid cognitive decline.
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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.
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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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Summary
Kallmann syndrome (KS) is a genetically heterogeneous condition characterized by hypogonadotropic hypogonadism with coexisting anosmia or hyposmia along with potential other phenotypic abnormalities depending on the specific genetic mutation involved. Several genetic mutations have been described to cause KS. The ANOS1 (KAL1) gene is responsible for 8% of mutations causing KS. A 17-year-old male presented to our clinic with delayed puberty and hyposmia, along with a family history suggestive of hypogonadism in his maternal uncle. Genetic testing for KS revealed complete exon 3 deletion in the ANOS1 gene. To the best of our knowledge, this specific mutation has not been previously described in the literature.
Learning points
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Missense and frameshift mutations in the KAL1 or ANOS1 gene located in the X chromosome are responsible for 8% of all known genetic mutations of Kallmann syndrome.
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Exon 3 deletion is one of the ANOS1 gene is a novel mutation, not reported before.
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Targeted gene sequencing for hypogonadotropic hypogonadism can be employed based on the phenotypic presentation.