ESPE Abstracts

Cushing’s disease (CD) is rare entity especially in pediatric patients. It is associated with significant morbidity. Early diagnosis and treatment is important for optimal outcome.

Aim: To evaluate the clinical, biochemical, pathology, treatments and outcome in a cohort of CD pediatrics patients in a single tertiary center.

Subjects and Methods: Retrospective review of 27 medical records of CD (chronological age (CA) <18 years (y) treated between 1992-2021. Data analyzed were: clinical, biochemical, radiological (MRI), bilateral inferior petrosal sinus sampling (BIPSS), histological features, therapeutic interventions and outcomes.

Results: CA at diagnosis (Mean ± SDS) 12.64 ± 2.52 years(y) (range(r) 5.88-17.32 y). F/M 1.45/1. Time between initial clinical signs and diagnosis was 1.44 ± 1.17 y. Features at diagnosis (%) were: Weight gain 92.5, Facial changes 77.8, striae 51.8, hirsutism 44.5, dorsal hump 44, acne 40.7, acanthosis nigricans 40.7, Hypertension 33.3, Pubertal delay or arrest 29.6, Growth retardation / Short stature 26, and others. Mean ± SD Height was -0.84 ± 1.09 (r:-2.68 to 0.03), weight 1.6± 1.46 (r: -0.54 to 4.76), BMI 1.78±0.76 (r: -0.7 to 2.8). Hypercortisolism was confirmed by UFC in 26/27 patients (96.2%) median 312 mg r/m2/day (r: 53-2005), SFC 23.00 hrs in 10/10 (100%) 1.06 ± 0.68 mg r/dl, Suppression test with dexametasone 18/18 (100%). High doses dexamethasone suppression test was positive in 15/16 patients, one patient did not inhibit. MRI showed microadenomas in 12 patients, macroadenomas in 7(3 invasive). Eight MRI (29,6 %) did not show adenoma. BIPSS were done in these patients. Central hypercortisolism were confirmed in 7 and one had ectopic Cushing (Carcinoide tumor in thymus). Transsphenoidal surgery (TSS) was performed in 22 /26 patients (excluding ectopic). 2 patients lost during follow-up, 1 received medical treatment and 1 craniotomy surgery. Histology confirmed ACTH+ adenoma in 17/23 (74%). The remission rates post-surgery was 66.6 % (16/24). Eight patients had persistent hypercortisolism. In these, second surgery, external pituitary Radiotherapy, gamma knife stereotactic radio-surgery, o medical treatments were underwent. Bilateral adrenalectomy was performed in one, who died. There was no recurrence after remission.

Conclusion: We reported the experience in our cohort of 27 CD patients seen in a single center over 30 years. The early diagnosis is essential to controlling hypercortisolism and prevents complications. Pituitary surgeon with experience of TSS in children is a priority. Post-surgical remission was similar to others series and same patients need second-line therapy. Recurrence is rare in this age group.