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Christina Lee Department of Pediatrics, University of Maryland Children’s Hospital, Baltimore, Maryland, USA

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Leah Hirschman Department of Pediatrics, University of Maryland Children’s Hospital, Baltimore, Maryland, USA

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Teresa York Department of Pediatric Hematology/Oncology, University of Maryland Children’s Hospital, Baltimore, Maryland, USA

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Paula Newton Department of Pediatric Endocrinology, University of Maryland Children’s Hospital, Baltimore, Maryland, USA

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Summary

Neonatal adrenal hemorrhage (NAH) occurs in up to 3% of infants and is the most common adrenal mass in newborns. The most common presentation of NAH is an asymptomatic palpable flank mass which resolves over time without intervention. In rare cases, NAH can present as hemorrhage, shock, or adrenal insufficiency. This case describes a preterm infant born with severe anemia in the setting of bilateral adrenal hemorrhages with resulting adrenal insufficiency. The infant was successfully treated with blood transfusions and steroids. This is a unique presentation of NAH as it was bilateral, presented with severe anemia, and resulted in prolonged adrenal insufficiency.

Learning points

  • Consider adrenal hemorrhage for cases of severe anemia at birth.

  • Adrenal insufficiency is a rare complication of adrenal hemorrhage.

  • Adrenal recovery can take months, if not years.

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Sarah N Parry Department of Endocrinology, Royal Prince Alfred Hospital, Sydney, Australia
Faculty of Medicine and Health, The University of Sydney, Sydney, Australia

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Namson S Lau Metabolism & Obesity Services, Royal Prince Alfred Hospital, Sydney, Australia
Liverpool Diabetes Collaboration, Ingham Institute of Applied Medical Research, Sydney, Australia
South West Clinical School, University of New South Wales, Sydney, Australia

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Summary

Approximately 80% of adrenal incidentalomas are benign, and development into adrenal cortical cancer is extremely rare. This is a major reason behind clinical guidelines recommending surveillance of incidentalomas for a relatively short duration of up to 5 years. Surveillance of lesions less than 1 cm is not routinely recommended. A 70-year-old lady was diagnosed with a non-hyperfunctioning 8 mm right adrenal lesion. She underwent annual biochemical and radiological assessment for 5 years before surveillance was extended to 2-yearly intervals. The lesion was stable in size, and radiological characteristics were consistent with a benign adenoma. Seven years after the initial detection of the adrenal lesion, she developed acute abdominal pain. Imaging revealed a 7 cm right adrenal lesion, which was surgically resected and histologically confirmed to be adrenal cortical cancer. She died 1 year later. Clinical guidelines have moved towards a shortened duration of surveillance of incidentalomas. Even though malignant transformation is a rare event, it is possible that this will result in a delayed diagnosis of adrenal cortical cancer, a highly aggressive malignancy with a poor prognosis. To our knowledge, this is the first published case of an adrenal lesion of less than 1 cm developing into adrenal cortical cancer.

Learning points

  • Adrenal incidentalomas are increasingly common.

  • Clinical practice guidelines exist to aid in differentiating benign and malignant lesions and assessing functional status.

  • Transformation of adrenal incidentalomas to adrenal cortical carcinomas is a rare but recognised event.

Open access
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.

Open access
Bruno Bouça Department of Endocrinology, Diabetes and Metabolism - Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal
Nova Medical School/ Faculdade de Ciencias Medicas, Universidade Nova de Lisboa, Lisbon, Portugal

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Mariana Cascão Intensive Care Unit - Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal

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Pedro Fiúza Department of Internal Medicine, Unit 7.2 - Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal

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Sara Amaral Department of Endocrinology, Diabetes and Metabolism - Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal
Nova Medical School/ Faculdade de Ciencias Medicas, Universidade Nova de Lisboa, Lisbon, Portugal

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Paula Bogalho Department of Endocrinology, Diabetes and Metabolism - Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal
Nova Medical School/ Faculdade de Ciencias Medicas, Universidade Nova de Lisboa, Lisbon, Portugal

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José Silva-Nunes Department of Endocrinology, Diabetes and Metabolism - Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal
Nova Medical School/ Faculdade de Ciencias Medicas, Universidade Nova de Lisboa, Lisbon, Portugal
Health and Technology Research Center (H&TRC), Escola Superior de Tecnologia da Saude de Lisboa, Lisbon, Portugal

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Summary

17-Alpha-hydroxylase deficiency (17OHD) is a rare autosomal recessive disease, representing 1% of cases of congenital adrenal hyperplasia. A 44-year-old female presented to the emergency department complaining of generalized asthenia and polyarthralgia for about 2 weeks. On examination, she was hypertensive (174/100 mmHg), and laboratory results revealed hypokalemia and hypocortisolism. She had an uncharacteristic morphotype, BMI of 16.7 kg/m2, cutaneous hyperpigmentation, and Tanner stage M1P1, with normal female external genitalia. She reported to have primary amenorrhea. Further analytical evaluations of her hormone levels were performed CT scan revealed adrenal bilateral hyperplasia and absence of female internal genitalia. A nodular lesion was observed in the left inguinal canal with 25 × 10 mm, compatible with a testicular remnant. Genetic analysis identified the c.3G>A p.(Met1?) variant in homozygosity in the CYP17A1 gene, classified as pathogenic, confirming the diagnosis of 17OHD. Karyotype analysis was compatible with 46,XY. The association of severe hypokalemia, hypertension, hypocortisolism, and oligo/amenorrhea and the absence of secondary sexual characteristics favored the diagnosis of 17OHD, confirmed by genetic testing. As in other published clinical cases, diagnosis outside pediatric age is not rare and should be considered when severe hypokalemia occurs in hypertensive adults with a lack of secondary sexual characteristics.

Learning points

  • The association of severe hypokalemia, hypertension, hypocortisolism, and oligo/amenorrhea and the absence of secondary sexual characteristics favor the diagnosis of 17-alpha-hydroxylase deficiency (17OHD).

  • Diagnosis outside pediatric age is not rare.

  • 17OHD should be considered when severe hypokalemia occurs in hypertensive adults with a lack of secondary sexual characteristics.

Open access