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Diagnosis and Treatment > Signs and Symptoms

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  • Facial plethora x
  • Facial fullness x
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Lima Lawrence Departments of Endocrinology, Diabetes & Metabolism, Cleveland Clinic, Cleveland, Ohio, USA

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Peng Zhang Departments of Pulmonary Medicine & Critical Care, Cleveland Clinic, Cleveland, Ohio, USA

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Humberto Choi Departments of Pulmonary Medicine & Critical Care, Cleveland Clinic, Cleveland, Ohio, USA

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Usman Ahmad Departments of Thoracic and Cardiovascular Surgery, Cleveland Clinic, Cleveland, Ohio, USA

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Valeria Arrossi Departments of Anatomic Pathology, Cleveland Clinic, Cleveland, Ohio, USA

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Andrei Purysko Departments of Diagnostic Radiology, Cleveland Clinic, Cleveland, Ohio, USA

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Vinni Makin Departments of Endocrinology, Diabetes & Metabolism, Cleveland Clinic, Cleveland, Ohio, USA

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Summary

Ectopic adrenocorticotropic hormone (ACTH) production leading to ectopic ACTH syndrome accounts for a small proportion of all Cushing’s syndrome (CS) cases. Thymic neuroendocrine tumors are rare neoplasms that may secrete ACTH leading to rapid development of hypercortisolism causing electrolyte and metabolic abnormalities, uncontrolled hypertension and an increased risk for opportunistic infections. We present a unique case of a patient who presented with a mediastinal mass, revealed to be an ACTH-secreting thymic neuroendocrine tumor (NET) causing ectopic CS. As the diagnosis of CS from ectopic ACTH syndrome (EAS) remains challenging, we emphasize the necessity for high clinical suspicion in the appropriate setting, concordance between biochemical, imaging and pathology findings, along with continued vigilant monitoring for recurrence after definitive treatment.

Learning points:

  • Functional thymic neuroendocrine tumors are exceedingly rare.

  • Ectopic Cushing’s syndrome secondary to thymic neuroendocrine tumors secreting ACTH present with features of hypercortisolism including electrolyte and metabolic abnormalities, uncontrolled hypertension and hyperglycemia, and opportunistic infections.

  • The ability to undergo surgery and completeness of resection are the strongest prognostic factors for improved overall survival; however, the recurrence rate remains high.

  • A high degree of initial clinical suspicion followed by vigilant monitoring is required for patients with this challenging disease.

Taxonomy:
Clinical Overview, Gland/Organ, Adrenal, Pituitary, Thymus, Topic, Adrenal, Hormone, ACTH, Cortisol, Condition/ Syndrome, Bilateral adrenal hyperplasia, Cushing's syndrome, Ectopic ACTH syndrome, Ectopic Cushing's syndrome, Hypokalaemia, Lymphadenopathy, Neuroendocrine tumour, Rhabdomyolysis, Patient Demographics, Age, Adult, Gender, Male, Ethnicity, White, Country of Treatment, United Kingdom, Diagnosis and Treatment, Signs and Symptoms, Buffalo hump, Chest pain, Chest pain (pleuritic), Dyspnoea, Facial fullness, Facial plethora, Hypercortisolaemia, Hyperglycaemia, Hyperpigmentation, Hypertension, Hypokalaemia, Hypotension, Leukocytosis, Lymphadenitis, Metabolic alkalosis, Myasthaenia, Obesity, Photosensitivity, Rhabdomyolysis, Supraclavicular fat pads, Syncope, Weight gain, Investigation, ACTH, ACTH stimulation, Bicarbonate, Biopsy, Blood pressure, Chromogranin A, Cortisol, Cortisol, free (24-hour urine), Creatine kinase, CT scan, Dexamethasone suppression, Glucose (blood), Histopathology, Immunohistochemistry, MRI, PET scan, Potassium, Synaptophysin, White blood cell count, X-ray, Intervention, Resection of tumour, Medication, Dexamethasone, Glucocorticoids, Ketoconazole, Steroids, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-19-0002
Volume/Issue:
Volume 2019: Issue 1
Open access
M J Trott Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK

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G Farah Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK

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V J Stokes Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK

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L M Wang Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK

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A B Grossman Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK

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Summary

We present a case of a young female patient with a rare cause of relapsing and remitting Cushing’s syndrome due to ectopic ACTH secretion from a thymic neuroendocrine tumour. A 34-year-old female presented with a constellation of symptoms of Cushing’s syndrome, including facial swelling, muscle weakness and cognitive impairment. We use the terms ‘relapsing and remitting’ in this case report, given the unpredictable time course of symptoms, which led to a delay of 2 years before the correct diagnosis of hypercortisolaemia. Diagnostic workup confirmed ectopic ACTH secretion, and a thymic mass was seen on mediastinal imaging. The patient subsequently underwent thymectomy with complete resolution of her symptoms. Several case series have documented the association of Cushing’s syndrome with thymic neuroendocrine tumours (NETs), although to our knowledge there are a few published cases of patients with relapsing and remitting symptoms. This case is also notable for the absence of features of the MEN-1 syndrome, along with the female gender of our patient and her history of non-smoking.

Learning points

  • Ectopic corticotrophin (ACTH) secretion should always be considered in the diagnostic workup of young patients with Cushing’s syndrome

  • There is a small but growing body of literature describing the correlation between ectopic ACTH secretion and thymic neuroendocrine tumours (NETs)

  • The possibility of a MEN-1 syndrome should be considered in all patients with thymic NETs, and we note the observational association with male gender and cigarette smoking in this cohort

  • An exception to these associations is the finding of relatively high incidence of thymic NETs among female non-smoking MEN-1 patients in the Japanese compared with Western populations

  • The relapsing and remitting course of our patient’s symptoms is noteworthy, given the paucity of this finding among other published cases

Taxonomy:
Clinical Overview, Gland/Organ, Adrenal, Topic, Adrenal, Hormone, ACTH, Cortisol, Condition/ Syndrome, Adrenocortical adenoma, Cushing's syndrome, Patient Demographics, Age, Adult, Gender, Female, Ethnicity, Asian - Chinese, Country of Treatment, Taiwan, Province of China, Diagnosis and Treatment, Signs and Symptoms, Ecchymoses, Facial fullness, Facial plethora, Hypercholesterolaemia, Weight gain, Investigation, ACTH, Adrenal scintigraphy, Adrenal venous sampling, Aldosterone (plasma), Cortisol (plasma), Cortisol day curve, Cortisol, free (24-hour urine), CT scan, Dexamethasone suppression (high dose), Dexamethasone suppression (low dose), Epinephrine (plasma), Haemoglobin, Histopathology, LDL cholesterol, Sodium, Waist circumference, Weight, Intervention, Laparoscopic adrenalectomy, Medication, Glucocorticoids, Hydrocortisone, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-16-0018
Volume/Issue:
Volume 2016: Issue 1
Open access
Ya-Wun Guo Department of Medicine, Taipei City Hospital, Zhongxing Branch, Taipei, Taiwan
Department of Medicine, Division of Endocrinology and Metabolism, Taipei Veterans General Hospital, Taipei, Taiwan

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Chii-Min Hwu Department of Medicine, Division of Endocrinology and Metabolism, Taipei Veterans General Hospital, Taipei, Taiwan
Faculty of Medicine, National Yang-Ming University School of Medicine, Taipei, Taiwan

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Justin Ging-Shing Won Department of Medicine, Division of Endocrinology and Metabolism, Taipei Veterans General Hospital, Taipei, Taiwan
Faculty of Medicine, National Yang-Ming University School of Medicine, Taipei, Taiwan

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Chia-Huei Chu Faculty of Medicine, National Yang-Ming University School of Medicine, Taipei, Taiwan
Department of Otorhinolaryngology-Head and Neck Surgery, Division of Otology, Taipei Veterans General Hospital, Taipei, Taiwan

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Liang-Yu Lin Department of Medicine, Division of Endocrinology and Metabolism, Taipei Veterans General Hospital, Taipei, Taiwan
Faculty of Medicine, National Yang-Ming University School of Medicine, Taipei, Taiwan

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Summary

A functional lesion in corticotrophin (ACTH)-independent Cushing’s syndrome is difficult to distinguish from lesions of bilateral adrenal masses. Methods for distinguishing these lesions include adrenal venous sampling and 131I-6β-iodomethyl-19-norcholesterol (131I-NP-59) scintigraphy. We present a case of a 29-year-old Han Chinese female patient with a history of hypercholesterolaemia and polycystic ovary syndrome. She presented with a 6month history of an 8kg body weight gain and gradual rounding of the face. Serial examinations revealed loss of circadian rhythm of cortisol, elevated urinary free-cortisol level and undetectable ACTH level (<5pg/mL). No suppression was observed in both the low- and high-dose dexamethasone suppression tests. Adrenal computed tomography revealed bilateral adrenal masses. Adrenal venous sampling was performed, and the right-to-left lateralisation ratio was 14.29. The finding from adrenal scintigraphy with NP-59 was consistent with right adrenal adenoma. The patient underwent laparoscopic right adrenalectomy, and the pathology report showed adrenocortical adenoma. Her postoperative cortisol level was 3.2μg/dL, and her Cushingoid appearance improved. In sum, both adrenal venous sampling and 131I-NP-59 scintigraphy are good diagnostic methods for Cushing’s syndrome presenting with bilateral adrenal masses.

Learning points

  • The clinical presentation of Cushing’ syndrome includes symptoms and signs of fat redistribution and protein-wasting features.

  • The diagnosis of patients with ACTH-independent Cushing’s syndrome with bilateral adrenal masses is challenging for localisation of the lesion.

  • Both adrenal venous sampling and 131I-NP-59 scintigraphy are good methods to use in these patients with Cushing’s syndrome presenting with bilateral adrenal masses.

Taxonomy:
Clinical Overview, Gland/Organ, Adrenal, Topic, Adrenal, Hormone, ACTH, Cortisol, Condition/ Syndrome, Adrenocortical adenoma, Cushing's syndrome, Patient Demographics, Age, Adult, Gender, Female, Ethnicity, Asian - Chinese, Country of Treatment, Taiwan, Province of China, Diagnosis and Treatment, Signs and Symptoms, Ecchymoses, Facial fullness, Facial plethora, Hypercholesterolaemia, Weight gain, Investigation, ACTH, Adrenal scintigraphy, Adrenal venous sampling, Aldosterone (plasma), Cortisol (plasma), Cortisol day curve, Cortisol, free (24-hour urine), CT scan, Dexamethasone suppression (high dose), Dexamethasone suppression (low dose), Epinephrine (plasma), Haemoglobin, Histopathology, LDL cholesterol, Sodium, Waist circumference, Weight, Intervention, Laparoscopic adrenalectomy, Medication, Glucocorticoids, Hydrocortisone, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-15-0118
Volume/Issue:
Volume 2016: Issue 1
Open access