Access to growth hormone treatment for short stature children with noonan syndrome-the experience of the Wroclaw centre, poland

Magdalena Makowiecka-Wolek; Robert Śmigiel

doi:10.1530/endoabs.110.EP788

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Endocrine Abstracts (2025) 110 EP788 | DOI: 10.1530/endoabs.110.EP788

ECEESPE2025 ePoster Presentations Growth Axis and Syndromes (132 abstracts)

Access to growth hormone treatment for short stature children with noonan syndrome-the experience of the Wroclaw centre, poland

Magdalena Makowiecka-Wolek ¹ & Robert Śmigiel ¹

Author affiliations

¹Wroclaw Medical University, Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Wrocław, Poland

JOINT1830

Introdution: Noonan syndrome (NS) is a clinically heterogeneous and autosomal dominant disorder which occurs with a frequency of 1: 1000 - 1: 2500 live births regardless of gender. The most characteristic clinical features are: short stature, congenital heart defects, numerous and various dysmorphic features, as well as deformities of the chest, skeletal and urogenital system as well and coagulation disorders disturbances. Psychomotor development as well as intellectual disability may be delayed.

Aim: The aim of this study was to analyse the availability of growth hormone treatment for children with Noonan syndrome in the Lower Silesia region.

Methods: The histories of 53 children were analysed consulted at the Genetic and Endocrinology Clinics for Children of the University Clinical Hospital in Wrocław, Poland who were diagnosed with Noonan syndrome confirmed by genetic testing.

Results: Between 2000 and 2024, 53 children were diagnosed with Noonan syndrome at the Genetic Outpatient Clinic of the University Clinical Hospital in Wrocław. Treatment with rhGH was implemented in a total of 10 children (19%), in 5 of them within the framework of available drug programmes (min.: drug programme for growth hormone deficiency, SGA or IUGR), in 1 child the treatment is carried out from the parents’ own resources, 4 children started treatment within the framework of a clinical trial in other centres in Poland. Nine children remain in observation - 17% (observation of growth rate with growth >= 3 c, age less than 4 years). Diagnosis of possible growth hormone deficiency in 4 children is currently ongoing. No adverse effects were observed in any case of rhGH use. All children underwent a cardiology consultation with ECHO evaluation of the heart to exclude hypertrophic cardiomyopathy.

Conclusions: Despite current global data demonstrating the efficacy and safety of rhGH treatment, only a small proportion of children with NS in Poland have access to this therapy. The inclusion of a larger group of patients requires changes to the current drug programme for rhGH in Poland