ESPE Abstracts (2014) 82 P-D-3-2-644

Cushings Syndrome without Origin

Sara Queirolo & Piero Balice

Pediatric Endocrinology and Diabetes Unit, Pediatric Department, Civico Hospital, Lugano, Switzerland

Background: Cushings syndrome is a rare entity in children and generally it presents a female to male predominance. The most common cause in childhood is iatrogenic Cushings syndrome related to chronic administration of glucocorticoids or ACTH. Endogenous Cushings syndrome is divided into ACTH dependent (ACTH overproduction due to pituitary adenoma or ectopic production) and in ACTH independent causes (surrenal adenoma, carcinoma, or bilateral hyperplasia).

Objective and hypotheses: We describe a case of a previously healthy 10-year-old boy presented with a rapid weight gain associated with growth retardation, facial pletora, and acne. He also complained of palpitations, sleep disruption, and muscular weakness. On clinical evaluation he presented central obesity, hypertension, excess sweating, acne, moon facies, and hirsutism.

Method: Biochemical investigation showed an elevation of ACTH, cortisol, and other androgen hormones. A low dose dexamethasone suppression test was performed and showed a persistent high level of cortisol and ACTH and loss of cortisol circadian rhythm. Cerebral and abdominal magnetic resonance imaging was performed and both resulted normal. Bilateral inferior petrosal sinus sampling has been done and did not demostrate the presence of an ACTH pituitary microadenoma. Total body octreotide scanning and repeated positron–emission tomography were also normal and have failed to determine the source of ACTH hypersecretion.

Results: A therapy with ketoconazole was started with gradual increase of the dose with a good clinical and biochemical response for 2 years. But at the dosage of 1200 mg/day (maximal adult dose) the patient presented relevant bone retardation, hypertension, and hyperinsulinism with a high possibility of multiorgan failure. Finally a bilateral total adrenalectomy was done and an adequate corticosteroid replacement therapy was started with a good outcome.

Conclusion: However the origin of ACTH hypersecretion, that is most likely cancerogenous, remain still unknown.

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