Recombinant GH treatment in a case of Costello syndrome with a 5-year follow-up

• DOI: 10.1297/cpe.29.195
• Publication Date: 2020-10-02T22:06:56Z
• Authors: Sirmen Kizilcan C...; Zeynep Siklar; Elif Ozsu; Zehra Aycan; Rukiye Uyanik; Meliha E. Bilici; Aysegul Ceran; Merih Berberoglu
• Keywords: Costello syndrome; Failure to Thrive; HRAS; Noonan Syndrome; Polyhydramnios

Costello syndrome (CS) is a rare member of the group neuro-cardio-facio-cutaneous diseases known as RASopathies. CS involves characteristic dysmorphic craniofacial features, cardiac defects, and increased cancer susceptibility, depending on heterozygous activating germline mutations in HRAS. Polyhydramnios high birth weight are most common presentations perinatal neonatal periods; while poor postnatal growth, short stature, failure to thrive significant issues infancy. Possible mechanisms stature include GH deficiency feeding difficulties. Only few reported cases with exist literature. Here, we describe 5-yr follow-up patient complete treated recombinant human (rhGH) from age four years. No adverse events regarding progression hypertrophic cardiomyopathy tumor development were observed. She has been responsive treatment improved growth velocity height standard deviation scores. still under continuous monitoring for concerns possible malignancies. This case indicated that rhGH therapy effective improving patients close oncological monitoring.