Introduction: We present an interesting case of cyclical Cushings syndrome who became too unwell to loose her job and confidence as a result of the condition prior to diagnosis of her condition.
Case report: A 44-year-old social worker referred by GP in 2007 for investigation of possible hypo- or hyperadrenalism. She had been diagnosed with polycystic ovary syndrome in 2002 (based on symptoms and ovarian ultrasound) and recently diagnosed with chronic fatigue syndrome but felt her symptoms were unlike those of classic chronic fatigue syndrome. She had an 8 year history of 22 kg weight gain, headache, cyclical fatigue, sweating, erratic periods, hirsuites, slow-healing and fainting. In particular, she had marked mood swings. On examination she had central obesity, facial hirsutes and marked proximal weakness. Five consecutive out patient 24 h urinary free cortisol measurements were 45, 1695, 487, 78 and 700 nmol/l. Overnight dexamethasone suppression test showed non-suppressible serum cortisol (116 nmol/l, normal <50). Inpatient 9 am and midnight cortisols showed similar dramatic cyclicity. High dose dexamethasone suppression test showed following results.
|Baseline 1||Baseline 2||Post dexamethasone|
|9 AM cortisol||121 nmol/l (144700)||68||37|
|2400 h cortisol||24 nmol/l (0250)||428|
|24 h urinary free cortisol||34||324||14|
|9 AM ACTH||22 ng/l (<50)||29|
MRI pituitary suggested a right-sided microadenoma and CT abdomen showed normal sized adrenal glands. Inferior petrosal sinus sampling showed elevated right sided petrosal ACTH (50633 ng/l) in comparison to left and periphery (3244 ng/l). Salivary cortisol with corresponding ACTH estimation over a period of 48 h confirmed marked cyclicity of the hormone profile. She has been referred for hypophysectomy.
Conclusion: This case of Cushings disease with extreme cyclicity empasises the difficulty in confirming diagnosis in such patients hence the need to persist with appropriate investigations in justifiable phenotypes.