Two Cases Of Pseudohypoparathyroidism And GNAS Gene Mutation

Background and purpose:Pseudohypoparathyroidism(PHP)is a rare endocrine disorder disease,which is characterized by hypocalcaemia and hyperphosphataemia due to parathyroid hormone(PTH)resistance.There are many subtypes of PHP,the pathogenesis of each subtype is different,and the clinical manifestations are diverse,but most of them have typical consistent performance: short stature,obesity,round-shaped face,subcutaneous ossifications,brachymetarcapy(the 4th or5 th ray)and developmental delay.In recent years,research on PHP genetics has made remarkable progress,but many aspects of its pathogenesis remain to be understood.The heterogeneity nature of the clinical manifestations of PHP makes it difficult to diagnose.It is prone to missed diagnosis and misdiagnosis in clinical practice.Therefore,identifying patients with new GNAS mutations,detailed clinical manifestations and biochemical characterization can contribute to better diagnosis and treatment of the disease.In order to make accurate differential diagnosis of PHP to avoid misdiagnosis of the condition,This article diagnosed 2 patients with PHP,conducted clinical diagnosis,treatment and genetic analysis.method:The patient,female,21 years old,was admitted to the hospital because of “short stature,Primary amenorrhea”.The younger brother,11 years old,entered the hospital because of “growth retardation”.By collected general clinical data,determine related hormones,biochemical levels,improve imaging and genetic testing to further analyze related conditions of PHP patients.The peripheral blood of the patient was collected and DNA was amplified.The exons 1 to 13 of the GNAS gene were amplified by PCR,and the product was purified and directly subjected to DNA sequencing.result:The two patients were: including short stature,obesity,round-shaped face,hypocalcaemia,hyperphosphataemia,elevated serum PTH,sTSH.subcutaneous ossifications,brachymetarcapy(the 4th ray).The results of gene sequencing showed that one base T was deleted from the GNAS exon 8 codon 2522,resulting in a frameshift mutation(p.Arg842AlafsTer5).In conclusion:This study reported 2 patients with PHP due to GNAS mutations,which were reported as new mutation types.PHP is a rare disorder disease,it is harmful to the patient and the family.So it is important to perform GNAS gene testing or to guide prenatal screening in patients with early clinical manifestations.