IFRD1 and pseudohypoparathyroidism type 1A: To confirm the reliability of transcriptomic results, five hub DEGs were selected for RT-qPCR validation, including CSPR3, ANKRD1, IFRD1, PPARGC1A, and AMPD3. Notably, transcriptome profiling demonstrated that these DEGs were significantly upregulated in the AHO group relative to the O groups.