The Study On Clinic And Pathogenic Gene Of Three Patients With Combined Pituitary Hormone Deficiency(CPHD)

Objective: To examine clinical features and mutations in PROP-1 and PIT-1 gene in three children with combined pituitary hormonal deficiency(CPHD)in Shanghai Ninth People's Hospital.Methods: Three patients average aged 25 years old(22-27 years old),sought medical attention for the short stature and lack of secondary sexual characteristics were diagnosed of CPHD,according to the clinical features and hormone levels.Polymerase chain reaction and DNA sequencing were performed to analyze the molecular etiology.Results: No causative mutations in PIT-1 gene were found.However,four PROP-1 nucleotide variation were identified,27T>C,59a>G,152G>T and 424G>A.Among them,152G>T(Gly51Val)heterozygous mutation identified in 2 patients,was demonstrated to be in very low frequency in the normal Chinese population(less than 1%).Conclusions: PROP-1 and PIT-1 gene mutations were not found in 3 patients.152 G>T may be associated with the phenotype of patients.