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Diagnosis and Treatment > Signs and Symptoms

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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
Matthieu St-Jean Division of Endocrinology, Department of Medicine and Research Center, Centre Hospitalier Universitaire de Montréal, Montréal, Québec, Canada

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Jessica MacKenzie-Feder Division of Endocrinology, Department of Medicine and Research Center, Centre Hospitalier Universitaire de Montréal, Montréal, Québec, Canada

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Isabelle Bourdeau Division of Endocrinology, Department of Medicine and Research Center, Centre Hospitalier Universitaire de Montréal, Montréal, Québec, Canada

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André Lacroix Division of Endocrinology, Department of Medicine and Research Center, Centre Hospitalier Universitaire de Montréal, Montréal, Québec, Canada

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Summary

A 29-year-old G4A3 woman presented at 25 weeks of pregnancy with progressive signs of Cushing’s syndrome (CS), gestational diabetes requiring insulin and hypertension. A 3.4 × 3.3 cm right adrenal adenoma was identified during abdominal ultrasound imaging for nephrolithiasis. Investigation revealed elevated levels of plasma cortisol, 24 h urinary free cortisol (UFC) and late-night salivary cortisol (LNSC). Serum ACTH levels were not fully suppressed (4 and 5 pmol/L (N: 2–11)). One month post-partum, CS regressed, 24-h UFC had normalised while ACTH levels were now less than 2 pmol/L; however, dexamethasone failed to suppress cortisol levels. Tests performed in vivo 6 weeks post-partum to identify aberrant hormone receptors showed no cortisol stimulation by various tests (including 300 IU hLH i.v.) except after administration of 250 µg i.v. Cosyntropin 1–24. Right adrenalectomy demonstrated an adrenocortical adenoma and atrophy of adjacent cortex. Quantitative RT-PCR analysis of the adenoma revealed the presence of ACTH (MC2) receptor mRNA, while LHCG receptor mRNA was almost undetectable. This case reveals that CS exacerbation in the context of pregnancy can result from the placental-derived ACTH stimulation of MC2 receptors on the adrenocortical adenoma. Possible contribution of other placental-derived factors such as oestrogens, CRH or CRH-like peptides cannot be ruled out.

Learning points:

  • Diagnosis of Cushing’s syndrome during pregnancy is complicated by several physiological alterations in hypothalamic–pituitary–adrenal axis regulation occurring in normal pregnancy.

  • Cushing’s syndrome (CS) exacerbation during pregnancy can be associated with aberrant expression of LHCG receptor on primary adrenocortical tumour or hyperplasia in some cases, but not in this patient.

  • Placental-derived ACTH, which is not subject to glucocorticoid negative feedback, stimulated cortisol secretion from this adrenal adenoma causing transient CS exacerbation during pregnancy.

  • Following delivery and tumour removal, suppression of HPA axis can require several months to recover and requires glucocorticoid replacement therapy.

Taxonomy:
Clinical Overview, Gland/Organ, Adrenal, Topic, Endocrine-related cancer, Hormone, ACTH, Antidiuretic Hormone, AVP, Cortisol, Glucocorticoids, Insulin, Condition/ Syndrome, Adrenocortical adenoma, Cushing's syndrome, Diabetes insipidus - gestational, Hypertension, Hypocalcaemia, Patient Demographics, Age, Adult, Gender, Female, Ethnicity, Asian - other, Country of Treatment, Canada, Diagnosis and Treatment, Signs and Symptoms, Back pain, Concentration difficulties, Facial fullness, Fatigue, Gestational diabetes, Hypertension, Myasthaenia, Peripheral oedema, Striae, Supraclavicular fat pads, Weight gain, Investigation, Aberrant adrenal receptors, ACTH, ACTH stimulation, Cortisol (plasma), Cortisol (salivary), Cortisol, free (24-hour urine), Dexamethasone suppression, Glucose (blood, fasting), Molecular genetic analysis, Ultrasound scan, Intervention, Adrenalectomy, Medication, Glucocorticoids, Insulin, Prednisolone, Related Disciplines, Obstetrics, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-18-0115
Volume/Issue:
Volume 2019: Issue 1
Open access