Cushing disease in children and adolescents - assessment of the clinical course, diagnostic process, and effects of the treatment - experience from a single paediatric centre.

Abstract

Adrenocorticotropic hormone-dependent Cushing syndrome, known as Cushing disease (CD), is a rare disease in paediatric patients, the signs and symptoms of which differ from those seen in adult patients. The objective of the study was to present the diagnostics and treatment results of CD in children and adolescents. We included four consequent patients in the study, 7-15 years old, with CD confirmed by laboratory tests and finally by histology ex-aminations after surgery. The data were retrospectively retrieved from the medical records of all the patients from the years 2012-2018. The median time from the onset of clinical symptoms to CD diagnosis was 1.5 years. All patients presented with rapid weight gain ac-companying growth retardation, and behavioural, puberty, or menstruation disorders. The diagnostic process was carried out in accord-ance with the current standard. Diagnostic difficulties regarded the cyclic CD. All patients underwent transsphenoidal complete resection of the pituitary adenoma, and they all required transient glucocorticoid substitution for a period that correlated with the time from onset of symptoms to diagnosis. All subjects achieved normalisation of hormonal results and resolution of clinical symptoms, but all are still obese. Currently the patients are in remission, but there is a suspicion of the regrowth of the tumour mass in the eldest patient. In each case of the coexistence of growth velocity inhibition (not necessarily short stature) with the weight gain (not necessarily obesity) and the appearance of hyperandrogenism and depressive-anxiety disorders, biochemical diagnostics of CS should be performed. Obesi-ty could be a chronic complication of CD in childhood, even after effective neurosurgery treatment.