Cushing's syndrome caused by an occult source: difficulties in diagnosis and management

Grossman, A. B., Kelly, P., Rockall, A., Bhattacharya, S., McNicol, A. and Balwick, T. (2006) Cushing's syndrome caused by an occult source: difficulties in diagnosis and management. Nature Clinical Practice Endocrinology & Metabolism, 2 11: 642-647. doi:10.1038/ncpendmet0327


Author Grossman, A. B.
Kelly, P.
Rockall, A.
Bhattacharya, S.
McNicol, A.
Balwick, T.
Title Cushing's syndrome caused by an occult source: difficulties in diagnosis and management
Journal name Nature Clinical Practice Endocrinology & Metabolism   Check publisher's open access policy
ISSN 1745-8366
Publication date 2006-11-01
Sub-type Article (original research)
DOI 10.1038/ncpendmet0327
Open Access Status Not yet assessed
Volume 2
Issue 11
Start page 642
End page 647
Total pages 6
Place of publication New York, USA
Publisher Nature Publishing Gourp
Language eng
Subject 110306 Endocrinology
Formatted abstract
Background: A 24-year-old woman presented with a 12.5 kg weight gain over 6 months (mostly abdominal), hirsutism, acne, ankle edema, polydipsia, nocturia, back pain, pigmentation, poor libido and lightened menses to our hospital in May 1986. She had been treated for the previous 2 years with furosemide and spironolactone for peripheral edema, and had stopped the combined oral contraceptive 2 months previously. She did not take tobacco, recreational drugs or alcohol. Upon physical examination she was grossly Cushingoid with florid clinical manifestations.

Investigations:
Serum potassium and bicarbonate, circadian rhythm of cortisol, low-dose and high-dose dexamethasone suppression tests, plasma adrenocorticotropic hormone (ACTH), corticotropin releasing-hormone stimulation test, CT scan of the pituitary, plain chest radiology, CT scan of the chest and abdomen, trans-sphenoidal pituitary biopsy and histology, CT scan and MRI of the thorax, MRI of the pituitary, octreotide scintigraphy, gastroscopy, colonoscopy, gut peptides, tumor markers, urine 5-hydroxyl-indole-acetic acid, resection, histology, immunocytochemistry and in situ hybridization.

Diagnosis:
Occult ectopic ACTH syndrome from a presumed appendiceal neuroendocrine tumor. The tumor was only identified some 20 years from initial presentation.

Managemen
t: Adrenolytic therapy before bilateral adrenalectomy to cure Cushing's syndrome, glucocorticoid and mineralocorticoid replacement therapy, and then repeated surveillance over 20 years to locate the ectopic source of ACTH. This was finally identified by CT scan and excised at laparotomy.
Keyword carcinoid tumor
Cushing's syndrome
ectopic ACTH syndrome
neuroendocrine tumor
therapy
Q-Index Code C1

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
School of Medicine Publications
 
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Created: Wed, 09 Dec 2009, 21:42:06 EST by Thelma Whitbourne on behalf of Faculty Of Health Sciences