Analysis Of Etiology Of Premature Ovarian Insufficiency In Children And Adolescent

ObjectivesPremature ovarian insufficiency(POI)is mostly related to X chromosome abnormalities(as Turner syndrome)in child.Few of POI cases are associated with autosomal abnormalities.This study had identified new autosomal deletions in three POI girls.MethodsThree girls were investigated because of no menstruation.They were 14,15,and 14 years old respectively.No breast tissue or other sex development was found in physical examination.Assess the impact of iatrogenic factors,environmental factors and immune factors.Clinical evaluation,hormones test,abdominal ultrasonography,and chromosome karyotyping were performed.Chromosome microarray analysis(CMA)was also used to detect DNA copy number changes.And search Chinese related literature to assess the incidence of POI in Chinese children.ResultsAll the 3 patients were adolescent girls without obvious secondary sexual characteristics,and their menstruation did not come.LH were significantly increased,FSH are greater than 25U/L and low estradiol levels.No obvious development of uterine and ovarian ultrasound tips.Thus,POI was diagnosed.There were no obvious abnormalities in iatrogenic factors,environmental factors and immune factors.Autosomal deletions were detected in these three cases through CMA.Patient 1 had 0.454 Mb deletion on 15q25.2;patient 2 had 1.337 Mb deletion on 19p13.3 and patient 3 had 0.163 Mb deletion on 16p11.2.Literature search shows that there is no Chinese literature report on children with POI.ConclusionsThe presence of microdeletions in 15q25.2,19p13.3 and 16p11.2 was confirmed by CMA detection in our POI cases.Compared with adult patients with POI,the proportion of chromosomal aberrations in adolescent POI is significantly higher.Not only common Turner syndrome but also autosomal abnormalities should be noted,and CMA is a powerful weapon for finding autosomal micro-aberrations.It is recommended that young POI should routinely perform CMA analysis.