ESPE Abstracts

Introduction: Children with CAH need a supraphysiologic dose of hydrocortisone, from 12-20 mg/m2/day to suppress adrenal androgens. Patients with difficult-to-treat CAH typically present with a combination of CAH-related (hyperandrogenemia, advancedbone age and short stature, amenorrhea) and glucocorticoid overtreatment–related clinical symptoms. Continuous subcutaneous hydrocortisone infusion therapy (CSHI) administered via an insulin pump has been used to deliver hydrocortisone. Several studies have demonstrated that this mode of drug delivery restores a circadian cortisol rhythm, normalizes ACTH levels compared to conventional therapy, and improves quality of life in adults.

Objective: To compare the effects of CSHI to conventional oral treatment.

Methods: We reviewed the electronic patient records of CAH patients, who were treated by CSHI in our pediatric center (Bicetre hospital, APHP, Paris Saclay University) since 2017.

Results: A total of 9 CAH patients were included in our study with median ages 11,3 years [5;16,2]: 7 girls [5;16,2years] and 2 boys [7;11years]. Boys in the study had not initiated puberty. All patients were treated with 14,5 [11,5; 20] kg/m2 hydrocortisone before CSHI and 9-alpha-Fludrocortisonin 8/9 patients. In response to CSHI (median dose 18,7 kg/m2 [15; 22,4]), median testosterone, 17OHP, delta 4 androstenedione and ACTH levels respectively decreased from 2,2 ng/ml [0,68; 4,1]to 0,22 ng/ml [0,1; 1,32] (P = 0,0042), from 100,5 ng/ml [12,4; 199] to 1,7 [0,68; 6,8] ng/ml (P = 0,009), from 12,1 ng/ml [1,9; 15] to 0,77 [0,15; 2,5] ng/ml (P = 0,045), and from 484 pg/ml [279; 1054] to 22 pg/ml [5; 85] (P <0,001). Median of treatment duration was 24 months [2; 48]. Doses of fludrocortisone were not modified during the study. No significant differences were observed for Body Mass Index (BMI) and growth velocity. No adrenal crisis was observed during treatment. Patients reported regain of energy, achievement of better disease control.

Conclusion: CSHI is a safe and effective treatment option and can therefore be considered in a selected group of patients who are resistant to treatment with conventional oral glucocorticoids.