ESPE Abstracts (2016) 86 P-P2-761

Paediatric Cushing Disease: One Patient's Path to Cure

Galina Yordanovaa,b, Violeta Iotovaa,b, Eleonora Zhelevaa, Chavdar Bachvarova, Yana Bochevaa,b, Sonya Galchevaa,b, Yavor Encheva,b, Krasimir Ivanova,b, Nikola Koleva,b, Anton Toneva,b & Helen Storrc

aDepartment of Paediatrics and Medical Genetics, UMHAT St. Marina, Varna, Bulgaria; bMU Varna, Varna, Bulgaria; cCentre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University London, London, UK

Background: Paediatric Cushing disease (CD) is rare but can be severe. Diagnosis and proper management are often delayed and the course of disease is unpredictable. Support from experts in the field is essential.

Objective and hypotheses: We present a male patient, diagnosed with Cushing syndrome elsewhere more than two years after his initial signs and symptoms. For 6 months he underwent numerous investigations, which were inconclusive and was left untreated. Subsequently, he underwent transsphenoidal surgery (TSS) which was unsuccessful. The patient had no further treatment and his health further deteriorated until he presented to our centre 2 months later.

Method: The patient’s 24 h urine Cortisol was 1012 μkg/24 h (r.r. 55.5–286). Serum cortisol and plasma ACTH at 0:00h were 601.94 nmol and l/117 pg/ml, respectively. We performed additional investigations, including overnight high-dose dexamethasone suppression test (8 mg Dexamethasone) which resulted in >85% Cortisol/ACTH suppression. IPSS localised the corticotroph adenoma to the left of the pituitary. The boy was commenced on oral Ketoconazole and planned for a second TSS. After 3 weeks on Ketoconazole he experienced liver toxicity and deterioration, related to the hypercortisolemia. Due to his rapid health decline a decision for bilateral adrenalectomy (BA) was made.

Results: Preoperatively he was treated with i.v. Etomidate (first use as adrenolytic in the country) and underwent BA successfully. Postoperatively he was managed with Hydrocortisone, Fludrocortisone and antihypertensives. During the first weeks the patient had elevated blood pressure, leg swelling and anxiety attacks. After 3 months he is recovering well, with no signs of Nelson’s syndrome and is gradually overcoming his depression. Pituitary hormone deficiency testing is planned.

Conclusion: Treatment of paediatric CD and its related complications is complex. Many factors can change the therapeutic course. Multidisciplinary approach and collaboration with experts in the field are crucial for a successful outcome.