Real-life evaluation of efficacy and safety of modified-release hydrocortisone (MR-HC) in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A national cohort study

Sara Vasaturo; Marianna Rita Stancampiano; Silvia Longhi; Giuseppa Patti; Tommaso Toschetti; Maria Elisabeth Street; Crescenza Lattanzio; Jessica Munarin; Maria Felicia Faienza; Mohamad Maghnie; Gianni Russo; Sanctis Luisa De; Mariacarolina Salerno; Donatella Capalbo

doi:10.1530/endoabs.110.P51

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Endocrine Abstracts (2025) 110 P51 | DOI: 10.1530/endoabs.110.P51

ECEESPE2025 Poster Presentations Adrenal and Cardiovascular Endocrinology (169 abstracts)

Real-life evaluation of efficacy and safety of modified-release hydrocortisone (MR-HC) in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A national cohort study

Sara Vasaturo ¹ , Marianna Rita Stancampiano ² , Silvia Longhi ³ , Giuseppa Patti ⁴ , Tommaso Toschetti ⁵ , Maria Elisabeth Street ⁶ , Crescenza Lattanzio ⁷ , Jessica Munarin ⁸ , Maria Felicia Faienza ⁷ , Mohamad Maghnie ⁴ , Gianni Russo ² , Luisa De Sanctis ⁸ , Mariacarolina Salerno ¹ & Donatella Capalbo ¹

Author affiliations

¹Unit of Pediatric Endocrinology, Department of Medical and Translational Sciences, University of Naples Federico II, Naples, Italy; ²Department of Pediatrics, IRCCS San Raffaele Scientific Institute, Milan, Italy; ³Department of Pediatrics, Hospital of Bolzano (SABES-ASDAA)Italy; Teaching Hospital of Paracelsus Medical University, Bolzano, Italy; ⁴Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Pediatric Endocrinology Unit, Department of Pediatrics, IRCCS Istituto Giannina Gaslini, Genoa, Italy; ⁵Department of Medicine and Surgery, University of Parma, Parma, Italy; ⁶Unit of Paediatrics, University Hospital of Parma, Parma, Italy, Department of Medicine and Surgery, University of Parma, Parma, Italy; ⁷Pediatric Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePre-J), Medical School, University of Bari Aldo Moro, Bari, Italy; ⁸Regina Margherita Children’s Hospital, Pediatric Endocrinology, Department of Public Health and Pediatric Sciences, University of Turin, Turin, Italy

JOINT3087

Background: Modified-release hydrocortisone (MR-HC) has been developed to mimic the cortisol rhythm and has recently been approved to improve the disease control in children with Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD), older than 12 years. Aim of this multicenter study is to assess the efficacy and safety of MR-HC in a national cohort of children.

Study population and methods: 71 children with 21OHD (25M/46F; age 15.3±2.4 years) were evaluated before and after 6 months of MR-HC. Fifty-four (76.1%) had classic form of 21OHD (66.2% salt wasting) and 17 (23.9%) the non-classic form. Before to switching to MR-HC, all patients were receiving conventional HC at an average dose of 16.0±4.0 mg/m² per day. General wellbeing, adverse effects (AE), frequency of adrenal crisis (AC), Body Mass Index (BMI), systolic (SBP) and diastolic blood pressure (DBP), ACTH, 17-Hydroxyprogesterone (17OHP), Androstenedione, Renin, Insulin, HOMA IR levels and lipid profile were assessed before and after 6 months of MR-HC. Primary outcome was the change in 17OHP levels at 9.00 am; secondary outcomes included changes in other adrenal precursors, body mass index (BMI), insulin sensitivity, general wellbeing and the frequency of AE and AC.

Results: After 6 months of MR−HC, 17OHP (12.5±26.0 vs 25.5±35.0 ng/ml, P=0.005) and ACTH (37.8±56.9 vs 141±233 pg/ml, P=0.001) levels significantly decreased compared to pre−treatment values, despite the HC dose remained unchanged (15.80±3.68 vs 16.0±4.0 mg/m²/day). Androstenedione (2.2±1.8 vs 2.7±1.9 ng/ml) and Renin (61.6±54.0 vs 82.3±85.0, pg/ml) levels also decreased, but these changes were not statistically significant. Insulin (14.9±6.0 mcUI/ml vs 16.2±7.0) and HOMA−IR (2.8±1.56 vs 3.02±1.7) showed slight, but not significant reductions. No significant changes were observed in BMISDS, SBP, DBP and lipid profile during MR-HC treatment. General wellbeing improved significantly from 77.5% to 96.6% after 6 months of MR-HC (P=0.005). No severe AEs were reported, and the frequency of AC remained unchanged compared to conventional treatment.

Conclusions: Preliminary results suggest that MR-HC treatment improves general wellbeing and biochemical disease control in children with 21OHD, with no significant adverse effects. The findings also indicate beneficial effects on insulin sensitivity, although these results need to be confirmed in a larger cohort with a longer treatment duration.