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Diagnosis and Treatment > Investigation > Adrenal function

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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.

Taxonomy:
Clinical Overview, Gland/Organ, Adrenal, Topic, Adrenal, Hormone, Adrenaline, Cortisol, Gastrin, Metanephrines, Noradrenaline, Normetanephrine, Condition/ Syndrome, Hypercalcaemia, Hyperparathyroidism (primary), MEN1, Phaeochromocytoma, Patient Demographics, Age, Adult, Gender, Male, Ethnicity, White, Country of Treatment, United Kingdom, United States, Diagnosis and Treatment, Signs and Symptoms, Hypercalcaemia, Investigation, Adrenal function, Adrenal scintigraphy, Calcium (serum), Chromogranin A, Cortisol, free (24-hour urine), CT scan, Dexamethasone suppression, DNA sequencing, Epinephrine (plasma), Gastrin, Haematoxylin and eosin staining, Haemoglobin A1c, Histopathology, Metanephrines (plasma), Metanephrines (urinary), Molecular genetic analysis, MRI, Noradrenaline, Norepinephrine, Normetanephrine, PET scan, Phosphate (serum), Polymerase Chain Reaction, PTH, Radionuclide imaging, Intervention, Adrenalectomy, Laparoscopic adrenalectomy, Parathyroidectomy, Publication Details, Case Report Type, Novel diagnostic procedure
DOI:
https://doi.org/10.1530/EDM-19-0156
Volume/Issue:
Volume 2020: Issue 1
Open access
Ken Takeshima First Department of Internal Medicine, Wakayama Medical University, Wakayama,, Japan

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Hiroyuki Ariyasu First Department of Internal Medicine, Wakayama Medical University, Wakayama,, Japan

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Tatsuya Ishibashi First Department of Internal Medicine, Wakayama Medical University, Wakayama,, Japan

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Shintaro Kawai First Department of Internal Medicine, Wakayama Medical University, Wakayama,, Japan

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Shinsuke Uraki First Department of Internal Medicine, Wakayama Medical University, Wakayama,, Japan

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Jinsoo Koh Department of Neurology, Wakayama Medical University, Wakayama,, Japan

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Hidefumi Ito Department of Neurology, Wakayama Medical University, Wakayama,, Japan

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Takashi Akamizu First Department of Internal Medicine, Wakayama Medical University, Wakayama,, Japan

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Summary

Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disease affecting muscles, the eyes and the endocrine organs. Diabetes mellitus and primary hypogonadism are endocrine manifestations typically seen in patients with DM1. Abnormalities of hypothalamic–pituitary–adrenal (HPA) axis have also been reported in some DM1 patients. We present a case of DM1 with a rare combination of multiple endocrinopathies; diabetes mellitus, a combined form of primary and secondary hypogonadism, and dysfunction of the HPA axis. In the present case, diabetes mellitus was characterized by severe insulin resistance with hyperinsulinemia. Glycemic control improved after modification of insulin sensitizers, such as metformin and pioglitazone. Hypogonadism was treated with testosterone replacement therapy. Notably, body composition analysis revealed increase in muscle mass and decrease in fat mass in our patient. This implies that manifestations of hypogonadism could be hidden by symptoms of myotonic dystrophy. Our patient had no symptoms associated with adrenal deficiency, so adrenal dysfunction was carefully followed up without hydrocortisone replacement therapy. In this report, we highlight the necessity for evaluation and treatment of multiple endocrinopathies in patients with DM1.

Learning points:

  • DM1 patients could be affected by a variety of multiple endocrinopathies.

  • Our patients with DM1 presented rare combinations of multiple endocrinopathies; diabetes mellitus, combined form of primary and secondary hypogonadism and dysfunction of HPA axis.

  • Testosterone treatment of hypogonadism in patients with DM1 could improve body composition.

  • The patients with DM1 should be assessed endocrine functions and treated depending on the degree of each endocrine dysfunction.

Taxonomy:
Clinical Overview, Gland/Organ, Adrenal, Topic, Adrenal, Hormone, ACTH, Aldosterone, Cortisol, FSH, IGF1, Insulin, LH, Prolactin, Testosterone, Condition/ Syndrome, Adrenal insufficiency, Autoimmune hypophysitis, Hypergonadotropic hypogonadism, Hyperkalaemia, Hypernatraemia, Hypogonadism, Insulin resistance, Myotonic dystrophy type 1, Patient Demographics, Age, Adult, Gender, Male, Ethnicity, Asian - Japanese, Country of Treatment, Japan, Diagnosis and Treatment, Signs and Symptoms, Diabetes mellitus type 2, Erectile dysfunction, Facies - abnormal, Hyperkalaemia, Hypernatraemia, Hypogonadism, Insulin resistance, Libido reduction/loss, Muscle atrophy, Myasthaenia, Myopathy, Obesity, T-reflex (depressed), Investigation, ACTH, Adrenal function, Aldosterone (24-hour urine), Aldosterone (blood), BMI, Body fat mass, Corticotropin-releasing hormone stimulation test, Cortisol, free (24-hour urine), C-peptide (24-hour urine), C-peptide (blood), CT scan, Electromyography, FSH, Glucose (blood, fasting), Haemoglobin A1c, IGF1, LH, Molecular genetic analysis, Potassium, Prolactin, Respiratory status, Skeletal muscle mass, Sodium, Testosterone, Triglycerides, Waist circumference, White blood cell count, Intervention, Diet, Medication, Alpha-glucosidase inhibitors, DPP4 inhibitors, Insulin, Insulin glargine, Metformin, Pioglitazone, Sitagliptin, Testosterone, Testosterone enanthate esters, Thiazolidinediones, Voglibose, Related Disciplines, Neurology, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-17-0143
Volume/Issue:
Volume 2018: Issue 1
Open access