ESPE Abstracts

Cushing’s disease (CD) is defined as hypercortisolism secondary to an adrenocorticotropin (ACTH) secreting pituitary adenoma. It is rare in the pediatric age and early diagnosis and treatment are important to prevent long-term complications. In the diagnostic workup, bilateral inferior petrosal sinus sampling (BIPSS) of ACTH after corticotropin-releasing hormone (CRH) stimulation is the gold standard in the differential diagnosis of ACTH-dependent hypercortisolism. We report the case of a 14-years old female patient who came to our attention for growth failure, rapid weight gain, swelling of the face and hypertrichosis, without a history of recent or prolonged corticosteroid therapy. Hypercortisolism was confirmed by 24-h urinary free cortisol (UFC, repeated twice) and two dexamethasone suppression tests. High levels of basal plasma ACTH measured at 8 am allowed to identify an ACTH-dependent form. To confirm the pituitary etiology we performed a high-dose dexamethasone suppression test with a positive result, showing a decrease of > 70% and > 90% respectively of plasma ACTH and cortisol. She underwent two pituitary MRI which failed to identify any lesion or abnormality. We couldn’t perform BIPSS with CRH stimulation because of CRH shortage and therefore we weren’t able to localize the tumor and perform pituitary surgery. To treat the hypercortisolism and prevent related complications the patient is being treated with osilodrostat, a suppressor of adrenal steroidogenesis. In pediatrics, over half of the pituitary adenomas are undetectable in MRI. In these patients, BIPSS after CRH stimulation is the gold standard to localize the tumor but since the production of corticorelin was discontinued in September 2020 we are now unable to perform it. Desmopressin has been used as an alternative but there is no extensive literature on its use in pediatric patients. When unable to localize the tumor, as in our reported case, surgery cannot be performed, and patients must start long term medical treatment with possible adverse effects. Drug shortage has been increasing in the last years, affecting patient’s correct medical care. Similarly to CRH, many other hormonal therapies (such as Growth Hormone Releasing Hormone, GHRH) are now unavailable. We report an example of how drug shortage can negatively impact the diagnostic workup in pediatric endocrinology and influence the therapeutic options. New political propositions are needed to incentivize the production of these less profitable drugs.