ESPE Abstracts

Introduction: The incidence of Cushing disease (CD) is 0.7-2.4/year per million, andadolescents and children make up 10% of new cases annually. However, thesensitivity and specificity of tests used to diagnose CD in childhood may bepoor, resulting in difficulties in diagnosis and treatment. The aim was to reportpediatric CD patients attending our pituitary referral center for surgery and todescribe their diagnosis, treatment and long-term follow-up.

Materials and Methods: The retrospective study included CD cases between the years 2000-2022. Medical records of the patients were reviewed to evaluate symptoms, clinicalfeatures, treatment and follow-up. The diagnosis of hypercortisolemia wasconfirmed by first-line tests, including loss of cortisol circadian rhythm, and afailure to suppress serum cortisol levels to <1.8 μg/dL during an overnightdexamethasone suppression test (DST) and low-dose DST. Second-line testswere also performed to determine the etiology, including high-dose DST, withcortisol decreasing by 50% compared to basal cortisol and corticotropin-releasing hormone (CRH) stimulation test during which ACTH rose to >35% ofbasal at the 15th and 30th minutes. We compared the basal cortisol result inthe patient group with normal ranges to investigate sensitivity and specificity ofcortisol and ACTH.

Results: The study included 17 patients (Female n=9) diagnosed at a median age of 14.9(8.0-18.2) years. Acne, obesity, hirsuitism, short stature, headache andmenstrual irregularity were the most common features at diagnosis. Tenpatients also had central hypothyroidism at diagnosis and all recovered after surgery without thyroxine replacement. Six patients had hypogonadotropic hypogonadism and three patients had growth hormone deficiency. Fifteenpatients had micro-adenoma and two macro-adenoma. Basal cortisol and ACTHcut-off levels for distinguishing CD patients from controls were 11.7 mg/dL(sensitivity 92.3%, specificity 90.9%) and 38.3 mg/dL (sensitivity 92.3%, specificity 100%), respectively. All cases underwent endonasal trans-sphenoidalsurgery. Remission was achieved in 15 (88%) within one week of surgery. Fourpatients were re-operated including one patient who underwent adrenalectomy.

Discussion: Children and young people with CD have a good prognosis after treatment inexperienced centers, when the hypothalamic-pituitary-adrenal axis heals completely. CD pediatric patients should be referred to multidisciplinary specialist centers managed by pediatric endocrinologists and specialized neurosurgeons. Early diagnosis and specialist management are critical due to the adverse health outcomes from long-term hypercortisolism and morbidity due to complications.