<h4>Object</h4>To report the clinical and genetic characteristics of patients diagnosed with pseudohypoparathyroidism (PHP) or inactivating parathyroid hormone (PTH)/PTHrP signaling disorders (iPPSD), and to provide insights for the diagnosis and management of this rare inherited metabolic disorder.<h4>Methods</h4>This study focused on two patients diagnosed with PHP or iPPSD, aiming to investigate their clinical and genetic characteristics. The gene discussed is PTHLH; the disease is metabolic disease.