Clinical Features And Related Genes Analysis Of Patients With Pituitary Stalk Interruption Syndrome

Objective: To investigate the clinical characteristics of pituitary stalk interruption syndrome(PSIS)and analyze the gene mutation data of psis by whole exon sequencin,so as to guide the clinical diagnosis and treatment of Psis and reduce the occurrence of missed diagnosis and misdiagnosis.Methods: The study collected clinical data from 35 patients diagnosed with pituitary stalk blocking syndrome at the Affiliated XXXX between July 2014 and November 2022.The data was retrospectively analyzed based on specific inclusion and exclusion criteria,and the peripheral blood DNA of 16 patients was analyzed using whole exon sequencing.This research adopts the Empower Starts(yier statistical software)and R software for statistical analysis.Results: Among the 35 patients with pituitary stalk interruption syn drome,about 71.4%(25/35)were short stature.The youngest age at diagn osis was 4.2 years and the oldest was 60.3 years.Hypogonadotropic hypo gonadism accounted for 20%(7/35),of which 4 cases complained of short penis,1 case complained of amenorrhea,and 2 cases complained of no s econdary sexual character development.Hyponatremia,epilepsy and poly dipsia and polyuria each accounted for 2.86%(1/35).Excluding 8 cases w ithout delivery records,the rate of dystostoic labor was as high as 40.7%,including breech delivery rate(14.28%),foot delivery rate(22.22%)and standing delivery rate(3.71%).There were 31 patients(88.6%)with grow th hormone deficiency,including 12 patients(34.3%)with simple growth hormone deficiency and 19 patients(55.9%)with growth hormone combi ned with other hormone deficiency.Twenty-one patients(60.0%)had hyp othyroidism.Eleven patients(31.4%)had hypogonadism.There were 10 cases of hypoadrenal function(28.6%)and 1 case of diabetes insipidus(2.86%).No abnormal blood glucose and blood lipid were observed in patie nts with pituitary stalk blocking syndrome.Whole exon sequencing revea led that WFS1 gene was the gene with the highest correlation with pituita ry stalk blocking syndrome.Conclusion: 1.The clinical manifestations of pituitary stalk blockin g syndrome are complex and varied.Short stature is the primary reason fo r patients with pituitary stalk blocking syndrome.The second is hypogona dism,the main manifestation of penile microsomia.At the same time,pati ents with hyponatremia,seizures,polydipsia and polyuria should also be vigilant in clinical work to prevent the possibility of missed diagnosis of t he disease.2.Patients with pituitary stalk blocking syndrome have differe nt levels of hormone deficiency.Growth hormone deficiency is the most common in children.Early diagnosis and appropriate growth hormone the rapy can improve the growth rate of patients.Sex hormone deficiency is t he main condition of adolescent patients,and appropriate sex hormone re placement therapy can effectively improve the secondary sex characteristi cs of patients.3.In this study,there were no obvious abnormalities in glu cose and lipid metabolism in patients with pituitary stalk blocking syndro me.4.The etiology of pituitary stalk blocking syndrome is not clear.The incidence of perinatal hypoxia and abnormal fetal position is higher.Who le exon sequencing indicated that WFS1 gene was the most relevant gene.