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Yuko Kiyohara Department of Medicine, Yokohama Rosai Hospital, Yokohama, Japan

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Rei Hirose Endocrinology and Diabetes Center, Yokohama Rosai Hospital, Yokohama, Japan

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Hiroshi Kawamata Department of Interventional Radiology, Yokohama Rosai Hospital, Yokohama, Japan

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Kazuki Nakai Endocrinology and Diabetes Center, Yokohama Rosai Hospital, Yokohama, Japan

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Akane Hirataka Endocrinology and Diabetes Center, Yokohama Rosai Hospital, Yokohama, Japan

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Jun Saito Endocrinology and Diabetes Center, Yokohama Rosai Hospital, Yokohama, Japan

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Yuya Tsurutani Endocrinology and Diabetes Center, Yokohama Rosai Hospital, Yokohama, Japan

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Summary

Fibromuscular dysplasia can cause renovascular hypertension. Since fibromuscular dysplasia may be underdiagnosed, precise diagnosis and management are crucial, especially for young women. A 20-year-old woman with hypertension and hypokalemia was referred to our hospital for further evaluation of secondary hypertension. At the previous hospital, her blood pressure was 160/110 mmHg and the serum potassium level was 2.9 mEq/L. The equilibrium phase on contrast-enhanced computed tomography revealed a low-density area in the upper median portion of the right kidney. On admission to our hospital, her blood pressure was 141/96 mmHg under 5 mg of amlodipine. Laboratory tests revealed plasma renin activity of 11.3 ng/mL/h and plasma aldosterone concentration of 117.1 pg/mL. Renal venous sampling of active renin concentration showed a right-to-left renin ratio of 3.13, confirming a significant increase in renin secretion from the right kidney. Selective reno-angiography detected focal stenosis with adjacent aneurysmal dilation and tortuosity in the proximal branch of the right renal artery. She was diagnosed with branch artery fibromuscular dysplasia and successfully treated with percutaneous transluminal angioplasty. After the treatment, she was free from hypertension and hypokalemia without any medications. Since branch artery fibromuscular dysplasia is sometimes difficult to diagnose, contrast-enhanced computed tomography can be a promising diagnostic tool as shown in this case. Concerning treatment, our patient was treated with percutaneous transluminal angioplasty, which should be considered for women of reproductive age because recommended antihypertensive medications can be teratogenic even in the first trimester of pregnancy.

Learning points

  • Although branch artery fibromuscular dysplasia (FMD) is sometimes difficult to diagnose, it should be considered in patients with high-renin, high-aldosterone hypertension.

  • Branch artery FMD can present with a low-density area of the kidney on contrast-enhanced computed tomography, as shown in this case.

  • Percutaneous transluminal angioplasty (PTA) can be an appropriate treatment for branch artery FMD, especially in young female patients.

  • PTA may immediately improve hypertension and hypokalemia without the need for medications.

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Rei Hirose Endocrinology and Diabetes Center, Yokohama Rosai Hospital, Yokohama, Japan

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Hiromitsu Tannai Department of Diagnostic Radiology, Tohoku University Graduate School of Medicine, Sendai, Japan

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Kazuki Nakai Endocrinology and Diabetes Center, Yokohama Rosai Hospital, Yokohama, Japan

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Kohzoh Makita Department of Radiology, Nerima Hikarigaoka Hospital, Tokyo, Japan

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Seishi Matsui Department of Interventional Radiology, Yokohama Rosai Hospital, Yokohama, Japan

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Jun Saito Endocrinology and Diabetes Center, Yokohama Rosai Hospital, Yokohama, Japan

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Summary

A 42-year-old female patient was referred to our hospital with hypertension and hypokalemia and was diagnosed with primary aldosteronism. Dynamic contrast-enhanced computed tomography images revealed a 13-mm nodule on the lateral segment of the left adrenal gland and a fine venous connection between the nodule and the prominent renal capsular vein running nearby. The venograms in the left lateral tributary with a microcatheter confirmed alternative drainage to the left renal capsular vein during adrenal venous sampling, and the left renal capsular vein sampling was added. The patient was diagnosed with a left aldosterone-producing adenoma (APA) using the lateralization index (48.3) and a higher plasma aldosterone concentration (PAC) of the left lateral tributary (66 700 pg/mL) than other tributary samples after adrenocorticotropic hormone stimulation. Furthermore, markedly higher PAC (224 000 pg/mL) was observed in the left renal capsular vein blood than in the left adrenal central vein (45 000 pg/mL) and tributaries, confirming the diagnosis. Laparoscopic left partial adrenalectomy and following histopathological analysis revealed a CYP11B2-positive adrenocortical adenoma. Complete clinical and biochemical success for primary aldosteronism was achieved after 6 months. Direct evidence of APA blood venous drainage into the renal capsular vein has been demonstrated. Sampling from an alternative drainage pathway could be beneficial for APA diagnosis if such APA blood drainage is assumed.

Learning points

  • Aldosterone-producing adenomas may drain blood into an alternative pathway but for the adrenal vein.

  • The presence of alternative venous drainage could be assumed by contrast-enhanced computed tomography or venogram during adrenal venous sampling.

  • Sampling in the alternative drainage veins and demonstrating elevated aldosterone levels could help in diagnosing aldosterone-producing adenoma.

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Sophie Demartin Department of Endocrinology, Université catholique de Louvain, Cliniques Universitaires Saint-Luc, Brussels, Belgium

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Pierre Goffette Department of Radiology, Université catholique de Louvain, Cliniques Universitaires Saint-Luc, Brussels, Belgium

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Emanuel Christ Department of Endocrinology, University Hospital of Basel, University of Basel, Basel, Switzerland

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Martin T Freitag Clinic of Radiology and Nuclear Medicine, Division of Nuclear Medicine, University Hospital of Basel, University of Basel, Basel, Switzerland

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Dominique Maiter Department of Endocrinology, Université catholique de Louvain, Cliniques Universitaires Saint-Luc, Brussels, Belgium

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Raluca Maria Furnica Department of Endocrinology, Université catholique de Louvain, Cliniques Universitaires Saint-Luc, Brussels, Belgium

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Summary

A 52-year-old female presented with recurrent episodes of fasting or post-absorptive hypoglycemia. A 72-h fasting test confirmed endogenous hyperinsulinemia. Conventional imaging was unremarkable. Selective pancreatic arterial calcium stimulation and hepatic venous sampling showed a maximum calcium-stimulated insulin concentration from several pancreatic areas, mainly the proximal splenic artery and the proximal gastroduodenal artery, suggesting the presence of one or more occult insulinoma(s) in the region of the pancreatic body. 68Ga-DOTA-exendin-4 PET/CT showed however generalized increased uptake in the pancreas and a diagnosis of nesidioblastosis was therefore suspected. The patient has been since successfully treated with dietetic measures and diazoxide. Treatment efficacy was confirmed by a flash glucose monitoring system with a follow-up of 7 months.

Learning points

  • Adult nesidioblastosis is a rare cause of endogenous hyperinsulinemic hypoglycemia.

  • The distinction between insulinoma and nesidioblastosis is essential since the therapeutic strategies are different.

  • 68Ga-DOTA-exendin-4 PET/CT emerges as a new noninvasive diagnostic tool for the localization of an endogenous source of hyperinsulinemic hypoglycemia.

  • Medical management with dietetic measures and diazoxide need to be considered as a valuable option to treat patients with adult nesidioblastosis.

  • Flash glucose monitoring system is helpful for the evaluation of treatment efficacy.

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Elinor Chelsom Vogt Department of Medicine, Haukeland University Hospital, Bergen, Norway
Department of Clinical Science and K.G. Jebsen-Center for Autoimmune Diseases, University of Bergen, Bergen, Norway

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Kathrin Hammerling Department of Oncology, Haukeland University Hospital, Bergen, Norway

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Halfdan Sorbye Department of Oncology, Haukeland University Hospital, Bergen, Norway
Department of Clinical Science and K.G. Jebsen-Center for Autoimmune Diseases, University of Bergen, Bergen, Norway

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Anette Heie Department of Surgery, Haukeland University Hospital, Bergen, Norway

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Andre Sulen Department of Clinical Science and K.G. Jebsen-Center for Autoimmune Diseases, University of Bergen, Bergen, Norway

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Grethe Ueland Department of Medicine, Haukeland University Hospital, Bergen, Norway

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Eystein Husebye Department of Medicine, Haukeland University Hospital, Bergen, Norway
Department of Clinical Science and K.G. Jebsen-Center for Autoimmune Diseases, University of Bergen, Bergen, Norway

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Paal Methlie Department of Medicine, Haukeland University Hospital, Bergen, Norway

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Summary

Feminizing estrogen-secreting adrenocortical carcinomas (ACCs) are exceedingly rare and carry a poor prognosis. The most common presenting trait is gynecomastia, but enlarged breasts are also a frequent clinical finding in healthy men. Biochemical evaluation may be challenging. As such, there is a high risk of delayed diagnosis and treatment opportunity. Here, we present a case with an estrogen-producing ACC where the abnormal steroid profile obtained at the time of initial workup was essential for the prompt diagnosis. Wider adoption of liquid chromatography mass spectrometry-based steroid assays has potential to improve early diagnosis of feminizing estrogen-secreting ACC.

Learning points

  • Feminizing estrogen-secreting adrenocortical carcinomas (ACCs) are a rare, but an important differential diagnosis in men with rapidly developing gynecomastia.

  • Biochemical evaluation is essential for a prompt diagnosis.

  • Steroid hormone profiling using liquid chromatography mass spectrometry technology has the potential to improve early diagnosis of feminizing estrogen-secreting ACC.

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Le Tuan Linh Department of Radiology, Hanoi Medical University Hospital, Hanoi, Vietnam
Department of Radiology, Hanoi Medical University, Hanoi, Vietnam

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Nguyen Minh Duc Department of Radiology, Pham Ngoc Thach University of Medicine, Ho Chi Minh city, Vietnam
Department of Radiology, Childrent’s Hospital 2, Ho Chi Minh city, Vietnam

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Hoang Tu Minh Department of Radiology, Hanoi Medical University, Hanoi, Vietnam

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Nguyen Ngoc Cuong Department of Radiology, Hanoi Medical University Hospital, Hanoi, Vietnam

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Vuong Thu Ha Department of Radiology, Hanoi Medical University Hospital, Hanoi, Vietnam

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Dao-Thi Luan Department of Pathology, Hanoi Medical University Hospital, Hanoi, Vietnam

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Thieu-Thi Tra My Department of Radiology, Hanoi Medical University, Hanoi, Vietnam

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Bui Van Lenh Department of Radiology, Hanoi Medical University Hospital, Hanoi, Vietnam
Department of Radiology, Hanoi Medical University, Hanoi, Vietnam

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Summary

Primary hepatic neuroendocrine tumor (PHNET) is a rare type of neuroendocrine tumor (NET) that is also a primary hepatic tumor. Patients are present with almost no specific clinical symptoms and typically present with negative test results and atypical imaging characteristics; therefore, the differentiation of PHNET from other types of primary hepatic masses can be very difficult. In this article, we describe a case of PHNET that mimicked a liver helminth infection in a 57-year-old man. The diagnosis of PHNET in this patient was challenging, and the final diagnosis was based on imaging, histopathology features, and long-term follow-up.

Learning points

  • An uncommon type of neuroendocrine tumor (NET) is a primary hepatic neuroendocrine tumor (PHNET).

  • Primary hepatic neuroendocrine tumors are rare NET lesions found in the liver, characterized by non-specific clinical and imaging results, which can be easily confused with other liver lesions, including HCC and parasitic lesions.

  • To have a conclusive diagnosis and classification, a mixture of many medical assessment techniques, such as imaging, gastrointestinal endoscopy, nuclear medicine, anatomy, including histopathology, and immunohistochemistry, is essential.

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Nami Mohammadian Khonsari Research Committee, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran

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Benyamin Hakak-Zargar Faculty of Health Sciences, Simon Fraser University, Burnaby, British Columbia, Canada

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Tessa Voth Department of Biomedical Physiology and Kinesiology, Faculty of Science, Simon Fraser University, Burnaby, British Columbia, Canada

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Shahab Noorian Department of Pediatrics, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran

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Summary

Multiple sulfatase deficiency (MSD) is a lysosomal storage disorder (LSD) that results in the accumulation of sulfate esters which go on to cause neurological deterioration and mental delay, skin changes, and dysmorphism. The disease can be categorized into three subtypes based on the age of onset: neonatal, late infantile, or juvenile. Our patient is a 2.5-year-old girl, the only child of a healthy couple. Prior to the presentation of the disease, she had not been noted to have any previous health complications. The condition began at the age of 6 months with developmental regression and global hypotonia. Following thorough evaluation and testing, the patient was diagnosed with severe late infantile MSD, although some features, such as minimal mental deterioration, minimal dysmorphic facial features, and minimal organ enlargement, did not fully correlate with the diagnosis, since in cases of severe forms of the condition these features are almost always quite marked. The unexpected minimalism of some of the patient’s MSD signs in spite of the severity of her MSD condition made her case worth further studying.

Learning points:

  • Treating dermatologic signs and symptoms greatly eased our patient’s discomfort.

  • We would suggest the use of appropriate supportive treatment for symptom management regardless of the life expectancy of the patient.

  • As regards the diagnosis of MLD, given that in some cases the patient may present with irregular features of the condition, a genetic evaluation may be useful for accurate diagnosis.

  • If motor function impairment is followed by dermatologic involvement, as seen in our patient and in many cases in the literature, MSD must be considered, and additional tests should be done to rule it out.

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Thien Vinh Luong Department of Nuclear Medicine and PET-Centre, Aarhus University Hospital, Aarhus, Denmark

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Lars Rejnmark Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark

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Anne Kirstine Arveschoug Department of Nuclear Medicine and PET-Centre, Aarhus University Hospital, Aarhus, Denmark

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Peter Iversen Department of Nuclear Medicine and PET-Centre, Aarhus University Hospital, Aarhus, Denmark

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Lars Rolighed Department of Otorhinolaryngology, Aarhus University Hospital, Aarhus, Denmark

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Multiple endocrine neoplasia 1 (MEN1) is a rare genetic syndrome characterized by the manifestation of tumors in endocrine glands most often in the parathyroid gland (PG). Treatment may involve several parathyroidectomies (PTX), especially in young patients, which increases the risk of postoperative complications. We present a 16-year-old patient with a family history of MEN1 syndrome. The patient started to show biochemical signs of hyperparathyroidism (HPT) and hypercalcemia at the age of 10. One and a half years later a PTX was successfully performed with removal of the two left PGs. However, a rise in plasma parathyroid hormone and ionized calcium was observed 4 years later. Preoperative noninvasive imaging with 99mTc-sestamibi scintigraphy showed no definitive parathyroid adenoma. A 11C-methionine position emission tomography combined with MRI (MET-PET/MRI) was then performed and detected a focus posterior to the lower part of the right thyroid lobe. Intraoperative angiography with fluorescence and indocyanine green dye was used to assess the vascularization of the remaining PGs. The lower right PG was removed. The patient was discharged with normalized biochemical values and without postoperative complications. Recurrence of primary HPT is frequent in MEN1 patients which often necessitates repeated operations. Our case report showed that the use of advanced noninvasive preoperative imaging techniques and intraoperative fluorescent imaging are valuable tools and should be taken into consideration in selected cases to avoid postoperative complications. To our knowledge, this is the first case where MET-PET/MRI has been used to detect parathyroid pathology.

Learning points:

  • MEN1 patients will develop parathyroid disease, which eventually will lead to surgical treatment with removal of the pathological glands.

  • Preoperatively usage of MRI combined with PET tracers such as 11C-methionine and 18F-Fluorocholine are able to detect parathyroid pathology with a higher sensitivity than conventional imaging.

  • Techniques using intraoperatively angiography with fluorescence and florescent dyes allow surgeons to verify the vascularization of each parathyroid gland.

  • Optimization of noninvasive preoperative imaging techniques and intraoperative fluorescent imaging are valuable tools and should be taken into consideration when performing PTX consecutively in the same patient to avoid postoperative complications.

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Rachel Wurth Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development

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Crystal Kamilaris Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development

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Naris Nilubol Surgical Oncology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Samira M Sadowski Surgical Oncology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Annabel Berthon Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development

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Martha M Quezado Laboratory of Pathology Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Fabio R Faucz Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development

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Constantine A Stratakis Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development

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Fady Hannah-Shmouni Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development

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Summary

Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of ACTH-independent Cushing syndrome (CS). This condition is characterized by glucocorticoid and/or mineralocorticoid excess, and is commonly regulated by aberrant G-protein coupled receptor expression may be subclinical, allowing the disease to progress for years undetected. Inhibin A is a glycoprotein hormone and tumor marker produced by certain endocrine glands including the adrenal cortex, which has not been previously investigated as a potential tumor marker for PBMAH. In the present report, serum inhibin A levels were evaluated in three patients with PBMAH before and after adrenalectomy. In all cases, serum inhibin A was elevated preoperatively and subsequently fell within the normal range after adrenalectomy. Additionally, adrenal tissues stained positive for inhibin A. We conclude that serum inhibin A levels may be a potential tumor marker for PBMAH.

Learning points:

  • PBMAH is a rare cause of CS.

  • PBMAH may have an insidious presentation, allowing the disease to progress for years prior to diagnosis.

  • Inhibin A is a heterodimeric glycoprotein hormone expressed in the gonads and adrenal cortex.

  • Inhibin A serum concentrations are elevated in some patients with PBMAH, suggesting the potential use of this hormone as a tumor marker.

  • Further exploration of serum inhibin A concentration, as it relates to PBMAH disease progression, is warranted to determine if this hormone could serve as an early detection marker and/or predictor of successful surgical treatment.

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Aisha A Tepede Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

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James Welch Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

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Maya Lee Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

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Adel Mandl Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

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Sunita K Agarwal Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

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Naris Nilubol National Cancer Institute (NCI), National Institutes of Health, Bethesda, Maryland, USA

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Dhaval Patel National Cancer Institute (NCI), National Institutes of Health, Bethesda, Maryland, USA

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Craig Cochran Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

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William F Simonds Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

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Lee S Weinstein Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

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Abhishek Jha Eunice Kennedy Shriver National Institute of Child Health and Development (NICHD), National Institutes of Health, Bethesda, Maryland, USA

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Corina Millo Clinical Center PET Department (CC PET), National Institutes of Health, Bethesda, Maryland, USA

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Karel Pacak Eunice Kennedy Shriver National Institute of Child Health and Development (NICHD), National Institutes of Health, Bethesda, Maryland, USA

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Jenny E Blau Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK)

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Summary

Pheochromocytoma (PHEO) in multiple endocrine neoplasia type 1 (MEN1) is extremely rare. The incidence is reported as less than 2%. We report a case of a 76-year-old male with familial MEN1 who was found to have unilateral PHEO. Although the patient was normotensive and asymptomatic, routine screening imaging with CT demonstrated bilateral adrenal masses. The left adrenal mass grew from 2.5 to 3.9 cm over 4 years with attenuation values of 9 Hounsfield units (HU) pre-contrast and 15 HU post-contrast washout. Laboratory evaluation demonstrated an adrenergic biochemical phenotype. Both 18F-fluorodeoxyglucose (18F-FDG) PET/CT and 123I-metaiodobenzylguanidine (123I-mIBG) scintigraphy demonstrated bilateral adrenal uptake. In contrast, 18F-fluorodihydroxyphenylalanine (18F-FDOPA) PET/CT demonstrated unilateral left adrenal uptake (28.7 standardized uptake value (SUV)) and physiologic right adrenal uptake. The patient underwent an uneventful left adrenalectomy with pathology consistent for PHEO. Post-operatively, he had biochemical normalization. A review of the literature suggests that adrenal tumors >2 cm may be at higher risk for pheochromocytoma in patients with MEN1. Despite a lack of symptoms related to catecholamine excess, enlarging adrenal nodules should be biochemically screened for PHEO. 18F-FDOPA PET/CT may be beneficial for localization in these patients.

Learning points:

  • 18F-FDOPA PET/CT is a beneficial imaging modality for identifying pheochromocytoma in MEN1 patients.

  • Adrenal adenomas should undergo routine biochemical workup for PHEO in MEN1 and can have serious peri-operative complications if not recognized, given that MEN1 patients undergo frequent surgical interventions.

  • MEN1 is implicated in the tumorigenesis of PHEO in this patient.

Open access
N F Lenders Diabetes and Metabolism, Garvan Institute of Medical Research, Sydney, New South Wales, Australia
Department of Endocrinology, St Vincent’s Hospital, Sydney, New South Wales, Australia
St Vincent’s Clinical School, University of New South Wales, Sydney, New South Wales, Australia

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J R Greenfield Diabetes and Metabolism, Garvan Institute of Medical Research, Sydney, New South Wales, Australia
Department of Endocrinology, St Vincent’s Hospital, Sydney, New South Wales, Australia
St Vincent’s Clinical School, University of New South Wales, Sydney, New South Wales, Australia

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Summary

Adrenal oncocytomas are rare tumours, with only approximately 160 cases reported in the literature. We report the use of urinary steroid profiling as part of their diagnostic evaluation and prognostication. A 45-year-old woman presented with clinical features of hyperandrogenism. Serum biochemistry confirmed androgen excess and computed tomography (CT) demonstrated a 3.2 cm adrenal tumour with density 39 HU pre-contrast. Urine steroid profiling showed elevated tetrahydro-11 deoxycortisol (THS), which is associated with adrenal malignancy. Laparoscopic adrenalectomy was performed, and histopathology diagnosed adrenal oncocytoma. Serum and urinary biochemistry resolved post-operatively and remained normal at 1-year follow-up.

Learning points:

  • Differential diagnosis of adrenal masses is challenging. Current techniques for differentiating between tumour types lack sensitivity and specificity.

  • 24-h urinary steroid profiling is a useful tool for reflecting steroid output from adrenal glands. Gas chromatography-mass spectrometry (GC-MS) of urinary steroid metabolites has sensitivity and specificity of 90% for diagnosing adrenocortical carcinoma.

  • Adrenal oncocytoma are rare tumours. Differentiating between benign and malignant types is difficult. Data guiding prognostication and management are sparse.

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