ECEESPE2025 ePoster Presentations Bone and Mineral Metabolism (142 abstracts)
Genetic skeletal disorders: phenotypic-genotypic characteristics and rhgh therapy responses of a pediatric cohort from a single center in china
Yiyun Huang 1 , Yan Peng 1 , Chuan Li 1 , Bobo Xie 1 , Xianda Wei 1 , Baoheng Gui 1 , Juan Meng 1 , Shaoke Chen 1 & Xin Fan 1
1The Second Affiliated Hospital of Guangxi Medical University, Nanning, China
JOINT357
Objectives: The primary objectives of this study are to elucidate the genotype-phenotype correlations in individuals with Genetic Skeletal Disorders (GSD), evaluate the efficacy of recombinant human Growth Hormone (rhGH) therapy, and enhance clinical acumen among practitioners regarding GSD.
Methods: The retrospective analysis involved 80 pediatric GSD patients diagnosed from August 2019 to September 2024. Patients were diagnosed with GSD through whole-exome sequencing, and genetic variant information was systematically collected.
Results: The study included 80 GSD patients, diagnosed at a median age of 4.88 years, with a median height standard deviation score (HT-SDS) of -3.58. The most common clinical manifestations included skeletal deformities (87.5%), short stature (81.3%), and distinctive facial features (65.0%). Those with pathogenic genes linked to Fundamental Cellular Processes had more severe short stature and prenatal phenotypes. Thirty patients received rhGH treatment for a median of 2.25 years (0.33~8.92), showing HT-SDS increases of 0.66±0.42 and 0.84±0.52, after one and two years, respectively (P<0.001). In contrast, eight untreated patients had an average HT-SDS decrease of -0.46±0.55.
Conclusion: In this cohort, pediatric GSD patients predominantly presented with short stature, skeletal deformities, and distinctive facial features, indicating a genotype-phenotype correlation. Compared to untreated GSD patients, those receiving rhGH treatment demonstrated varying degrees of height improvement, however, the long-term efficacy of this treatment warrants further investigation.
Key words: Bone Diseases; Developmental; Genotype; Recombinant Human Growth Hormone; Growth Disorders
Volume 110
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Endocrine Abstracts
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