Growth hormone therapy in noonan syndrome: impact on neurodevelopment and prognosis

Ji-Hee Yoon; Aram Yang

doi:10.1530/endoabs.110.P632

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Endocrine Abstracts (2025) 110 P632 | DOI: 10.1530/endoabs.110.P632

ECEESPE2025 Poster Presentations Growth Axis and Syndromes (91 abstracts)

Growth hormone therapy in noonan syndrome: impact on neurodevelopment and prognosis

Ji-Hee Yoon ¹ & Aram Yang ²

Author affiliations

¹Bundang Jesaeng Hospital, Pediatrics, Bundang, South Korea; ²Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Pediatrics, Seoul, South Korea

JOINT1565

Context: Noonan syndrome (NS) is a genetic disorder characterized by short stature, congenital heart defects, and developmental delay/intellectual disabilities (DD/ID). While recombinant human growth hormone (rhGH) is widely used for short stature in NS, its impact on neurodevelopment remains unclear.

Objective: This study aimed to evaluate the neurodevelopmental outcomes of NS patients treated with rhGH and to identify factors influencing the risk of DD/ID.

Methods: A retrospective cohort study was conducted using the Korean National Health Insurance Database (NHID) from 2007 to 2023. NS patients (ICD-10: Q87. 1) who received rhGH therapy were included. DD/ID was identified using ICD-10 codes (F70–F79, F80–F89). Clinical characteristics, comorbidities, and healthcare utilization were compared between groups with and without DD/ID. Kaplan-Meier analysis assessed the cumulative incidence of DD/ID, and logistic regression identified associated risk factors.

Results: Among 302 NS patients (172 males, 130 females) treated with rhGH, 102 (33. 8%) had DD/ID. Longer GH therapy was associated with a reduced risk of DD/ID (Or = 0. 906, p < 0. 001). Patients treated for >2 years had a significantly lower cumulative incidence of DD/ID (p < 0. 001). Among those with DD/ID, the age at diagnosis was significantly younger in patients diagnosed before GH initiation than in those diagnosed after GH therapy (p < 0. 001), suggesting a potential delaying effect of GH treatment on DD/ID onset. Baseline and final Charlson Comorbidity Index (CCI) scores were higher in the DD/ID group (P = 0. 003 and p < 0. 001, respectively). ADHD (Or = 1. 347, p < 0. 001), skeletal disorders (Or = 1. 156, P = 0. 007), and obstructive sleep apnea (P = 0. 032) were significantly associated with DD/ID.

Conclusions: Prolonged rhGH therapy (>2 years) was associated with a lower risk of DD/ID and a delayed age at DD/ID diagnosis in NS patients. ADHD, skeletal disorders, and obstructive sleep apnea were significant risk factors for DD/ID. These findings suggest that early and sustained GH therapy may mitigate neurodevelopmental impairment in NS. Given the higher healthcare burden in DD/ID patients, a multidisciplinary approach is needed to optimize treatment strategies and long-term outcomes.