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Endocrine Abstracts (2015) 37 EP1235 | DOI: 10.1530/endoabs.37.EP1235

1Department of Medical Endocrinology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; 2Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; 3Department of Neurosurgery, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.


Introduction: Cyclic Cushing’s syndrome (CS) is a rare disorder, characterised by alternating periods of normo – and hypercortisolism.

Case report: An 18-year-old young man was followed at the Department of Growth and Reproduction due to Klinefelter and received androgen replacement since the age of 12. As he was shifted to i.m. injections his liver enzymes increased and liver damage due to androgen replacement was suspected. A liver biopsy showed steatosis and, accordingly, androgen replacement was paused. However, the medical history revealed 20 kg weight gain, abdominal striae and mental changes, leading to evaluations for CS. Initial tests showed elevated UFC levels of 213, 238 and 397 nmol/day (ref: 12–150) and borderline abnormal 1 mg dexamethasone suppression test (DST). Over the following months, equivocal test results challenged the clinicians. Repeated long DSTs were normal, UFC levels were fluctuating and, subsequently, a peripheral CRH test showed more than 50% rise in ACTH. Finally, MRI demonstrated a 5 mm hypointense mass in the pituitary gland and an inferior petrosal sinus sampling showed a pituitary-to-peripheral ACTH-response >5, which led to the diagnosis of Cushing’s disease. Two years after first CS suspicion a transsphenoidal adenomectomy was performed. Unfortunately, histology did not reveal signs of an adenoma and during the following years he presented with clinical CS features. He resumed androgen replacement to rule out androgen deficiency as responsible for the symptoms, and liver function tests were unrelated to this. Repeated DSTs showed normal suppression of cortisol despite several elevated UFCs. Thus, the cyclic manifestation of Cushing’s had, very likely, relapsed. The patient had side effects to all possible registered medical therapies for Cushing’s and refuses another neurosurgical procedure.

Conclusions: This case illustrates how overlapping symptoms of cyclic CS and hypogonadism due to lack of androgen replacement further hamper diagnosis and management of cyclic CS.

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