Question

30 year Female with two year history of weight gain, hirsutism, easy bruising and oligomenorrhea. The doctor notes HT (BP 180/110) and muscle weakness. The laboratory data showed the following results: 9 am cortisol 600 nmol/L (200-700), Low dose dexamethasone suppression test - Basal 630 nmol/L- 48h 470 nmol/L (normal <50 nmol/L), Urine free cortisol: 1250 nmol/L (<250), Plasma ACTH: undetectable. What do you think the cause of her symptoms would be?

Answer 1

The cause of her symptoms might be hypersecretion of glucocorticoids resulting in a syndrome called 'cushing's syndrome'.

Hypersecretion of glucocorticoids may be due to tumor of adrenal cortex or may be also due to exogenously administered excess steroids or tumor of pituitary, that increases secretion of ACTH.

Besides the clinical features like weight gain, hirsutism, easy bruising, oligomenorrhea, hypertension and muscle weakness some people will also show some other symptoms like a moon face, buffalo hump, pendulous abdomen, reddish purple striae on abdomen, poor wound healing, hyperglycemia, osteoporosis, peptic ulcer and acne.

The diagnosis is confirmed by urine free cortisol and low dose dexamethasone suppression test. As plasma ACTH is undetectable, it may be an ACTH independent case.

The treatment includes administeration of high dose of 'Ketoconazole / Metyrapone' that inhibit cortisol synthesis and surgical resection of tumor can be done in advanced cases.

In some patients, sudden corticosteroid withdrawl may leads to rebound cortisolism and results in cushing's syndrome. This can be prevented by slowly tapering the dosage of exogenously administered steroids.