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Diagnosis and Treatment > Signs and Symptoms

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  • Facial plethora x
  • Amenorrhoea x
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Wei Yang Division of Endocrinology, Department of Internal Medicine

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David Pham Department of Radiology, University of California Davis School of Medicine, Sacramento, California, USA

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Aren T Vierra Division of Endocrinology, Department of Internal Medicine

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Sarah Azam Division of Endocrinology, Department of Internal Medicine

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Dorina Gui Department of Pathology, University of California Davis School of Medicine, Sacramento, California, USA

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John C Yoon Division of Endocrinology, Department of Internal Medicine

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Summary

Ectopic ACTH-secreting pulmonary neuroendocrine tumors are rare and account for less than 5% of endogenous Cushing’s syndrome cases. We describe an unusual case of metastatic bronchial carcinoid tumor in a young woman presenting with unprovoked pulmonary emboli, which initially prevented the detection of the primary tumor on imaging. The source of ectopic ACTH was ultimately localized by a Gallium-DOTATATE scan, which demonstrated increased tracer uptake in a right middle lobe lung nodule and multiple liver nodules. The histological diagnosis was established based on a core biopsy of a hepatic lesion and the patient was started on a glucocorticoid receptor antagonist and a somatostatin analog. This case illustrates that hypercogulability can further aggravate the diagnostic challenges in ectopic ACTH syndrome. We discuss the literature on the current diagnosis and management strategies for ectopic ACTH syndrome.

Learning points:

  • In a young patient with concurrent hypokalemia and uncontrolled hypertension on multiple antihypertensive agents, secondary causes of hypertension should be evaluated.

  • Patients with Cushing’s syndrome can develop an acquired hypercoagulable state leading to spontaneous and postoperative venous thromboembolism.

  • Pulmonary emboli may complicate the imaging of the bronchial carcinoid tumor in ectopic ACTH syndrome.

  • Imaging with Gallium-68 DOTATATE PET/CT scan has the highest sensitivity and specificity in detecting ectopic ACTH-secreting tumors.

  • A combination of various noninvasive biochemical tests can enhance the diagnostic accuracy in differentiating Cushing’s disease from ectopic ACTH syndrome provided they have concordant results. Bilateral inferior petrosal sinus sampling remains the gold standard.

Taxonomy:
Clinical Overview, Gland/Organ, Adrenal, Pituitary, Topic, Adrenal, Hormone, ACTH, Cortisol, Condition/ Syndrome, Cushing's syndrome, Ectopic Cushing's syndrome, Metastatic tumour, Microadenoma, Neuroendocrine tumour, Patient Demographics, Age, Adult, Gender, Female, Ethnicity, Black - African, Country of Treatment, United States, Diagnosis and Treatment, Signs and Symptoms, Amenorrhoea, Dyspnoea, Facial plethora, Fatigue, Hypercortisolaemia, Hypertension, Hypokalaemia, Nausea, Obesity, Oedema, Striae, Tachycardia, Thrombophilia, Investigation, ACTH, Angiography, Calcitonin, Chromogranin A, Core needle biopsy, Cortisol (9am), Cortisol, free (24-hour urine), CTPA scan, CT scan, Dexamethasone suppression (high dose), Dexamethasone suppression (low dose), FSH, Gallium scan, Glucose (blood), Haematoxylin and eosin staining, Histopathology, Immunohistochemistry, LH, Potassium, Synaptophysin, Ultrasound-guided biopsy, Medication, Amlodipine, Furosemide, Heparin, Insulin, Lanreotide, Lisinopril, Metformin, Octreotide, Potassium chloride, Somatostatin analogues, Spironolactone, Related Disciplines, Oncology, Radiology/Rheumatology, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-19-0033
Volume/Issue:
Volume 2019: Issue 1
Open access
A Pazderska Departments of Endocrinology, Adelaide and Meath Hospitals, incorporating the National Children’s Hospital, Tallaght, Dublin 24, Ireland

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S Crowther Departments of Cellular Pathology, Adelaide and Meath Hospitals, incorporating the National Children’s Hospital, Tallaght, Dublin 24, Ireland

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P Govender Departments of Radiology, Adelaide and Meath Hospitals, incorporating the National Children’s Hospital, Tallaght, Dublin 24, Ireland

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K C Conlon Departments of Professional Surgical Unit, Adelaide and Meath Hospitals, incorporating the National Children’s Hospital, Tallaght, Dublin 24, Ireland
Departments of Surgery, Trinity College, Dublin, Ireland

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M Sherlock Departments of Endocrinology, Adelaide and Meath Hospitals, incorporating the National Children’s Hospital, Tallaght, Dublin 24, Ireland
Departments of Endocrinology, Trinity College, Dublin, Ireland

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J Gibney Departments of Endocrinology, Adelaide and Meath Hospitals, incorporating the National Children’s Hospital, Tallaght, Dublin 24, Ireland
Departments of Endocrinology, Trinity College, Dublin, Ireland

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Summary

Avascular necrosis (AVN) is a rare presenting feature of endogenous hypercortisolism. If left untreated, complete collapse of the femoral head may ensue, necessitating hip replacement in up to 70% of patients. The majority of the described patients with AVN due to endogenous hypercortisolaemia required surgical intervention. A 36-year-old female, investigated for right leg pain, reported rapid weight gain, bruising and secondary amenorrhoea. She had abdominal adiposity with violaceous striae, facial plethora and hirsutism, atrophic skin, ecchymosis and proximal myopathy. Investigations confirmed cortisol excess (cortisol following low-dose 48h dexamethasone suppression test 807nmol/L; 24h urinary free cortisol 1443nmol (normal<290nmol)). Adrenocorticotrophic hormone (ACTH) was <5.0pg/mL. CT demonstrated subtle left adrenal gland hypertrophy. Hypercortisolaemia persisted after left adrenalectomy. Histology revealed primary pigmented micronodular adrenal disease. Post-operatively, right leg pain worsened and left leg pain developed, affecting mobility. MRI showed bilateral femoral head AVN. She underwent right adrenalectomy and steroid replacement was commenced. Four months after surgery, leg pain had resolved and mobility was normal. Repeat MRI showed marked improvement of radiological abnormalities in both femoral heads, consistent with spontaneous healing of AVN. We report a case of Cushing’s syndrome due to primary pigmented nodular adrenocortical disease, presenting with symptomatic AVN of both hips. This was managed conservatively from an orthopaedic perspective. Following cure of hypercortisolaemia, the patient experienced excellent recovery and remains symptom free 4 years after adrenalectomy. This is the first report of a favourable outcome over long-term follow-up of a patient with bilateral AVN of the hip, which reversed with treatment of endogenous hypercortisolaemia.

Learning points

  • AVN of femoral head can be a presenting feature of hypercortisolism, both endogenous and exogenous.

  • Rarely, treatment of hypercortisolaemia can reverse AVN without the need for orthopaedic intervention.

  • Primary pigmented nodular adrenal disease is a rare cause of ACTH-independent Cushing’s syndrome.

Taxonomy:
Clinical Overview, Gland/Organ, Adrenal, Topic, Neuroendocrinology, Hormone, ACTH, Cortisol, Condition/ Syndrome, Cushing's syndrome, Patient Demographics, Age, Adult, Gender, Female, Ethnicity, White, Country of Treatment, Ireland, Diagnosis and Treatment, Signs and Symptoms, Abdominal adiposity, Amenorrhoea, Atrophy, Ecchymoses, Facial plethora, Haematoma, Hirsutism, Hypercortisolaemia, Leg pain, Muscle atrophy, Osteoporosis, Striae, Weight gain, Investigation, ACTH, Cortisol, Cortisol (9am), CT scan, Dexamethasone suppression (high dose), Dexamethasone suppression (low dose), Discectomy, Histopathology, MRI, Intervention, Adrenalectomy, 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-16-0015
Volume/Issue:
Volume 2016: Issue 1
Open access