Analysis Of Cytogenetics And Clinical Features Of 70 Patients With Primary Amenorrhea

Background:Primary amenorrhea is a common clinical symptom of gynecologic endocrinology.The incidence of primary amenorrhea is about 1/1000,mostly caused by genetic factor or congenital dysplasia,about 30%of the patients accompanying with genital tract abnormalities.Abnormal chromosome karyotype is one of the important causes of primary amenorrhea,Turner’s syndrome(TS)and 46,XY pure gonadal dysgenesis(Swyer’s syndrome)are given priority to the abnormal sex chromosome karyotype,while the normal mainly cover chromosome karyotype,while the normal mainly cover Mayer-Rokitansky-Kuster-Hauser syndrome(MRKH syndrome),anosmia syndrome(Kallmann’s syndrome,KS),Idiopathic hypogonadotropic hypogonadism(IHH)and then autosomal abnormalities.Objective:To investigate the relationship between the primary amenorrhea and chromosomal abnormalities through the analysis of cytogenetic characteristics and clinical features of patients with primary amenorrhea.Methods:We analyzed the detection of chromosomal karyotype and clinical characteristics of 70 patients with primary amenorrhea in the Department of Gynecology of Jiangsu Province Hospital from October 2014 to March 2017,whose social gender and genitals performance are showing for women and the age ranging from 14～30 years old.The main reasons for the first visits are mainly primary amenorrhea,secondary sex characters dysplasia,growth retardation and primary infertility and so on.We record the general condition and clinical features of all subjects and collect peripheral blood of the patients to check chromosome karyotype,using cell culture and G banding method to calculate 50 cells,while chimeric calculation of 100 cases,distortion or chimera karyotype at least 6 the same,and analyse the level of sex hormone by applying chemiluminescence method.Thisreseach was conducted upon the approval of the hospital’s ethics committee and the patient’s informed consent.Results:We divide the cases into 25 numbers of TS,5 cases of Swyer’s syndrome,MRKH syndrome in 10 cases,KS in 5 cases,21 cases of IHH and chromosome abnormality amounting to 4.Abnormal karyotype,a total of 34 cases,accounting for 48.57%,with abnormal sex chromosome cases,accounting for 88.24%of the abnormal karyotype,with 45,XO,45,X chimeras and 46,XY are relatively common,accounted for 26.47%of all abnormal karyotype(9/34),32.35%(11/34)and 14.71%(5/34);The X chromosome structural abnormalities accounted for 14.71%(5/34);Abnormal autosomal accounted for 11.76%(4/34).The follicle-stimulating hormone(FSH)and luteinizing hormone(LH)of abnormal sex chromosome karyotype in patients with primary amenorrhea were obviously higher than that of normal people,while estradiol(E2),of course were significantly lower than the normal,no obvious difference were found between(progesterone),T(testosterone)and PRL(prolactin).The FSH and LH of TS patients increase and the level of E2 decrease,in which FSH is higher than 40 IU/L in the 16 cases,while FSH in 10～40 IU/L in the last 9 cases;and the FSH and LH in the patients of Swyer’s syndrome are increasing and E2 reducing,with FSH greater than 40 IU/L;The level of FSH,LH,and E2 of KS and IHH patients are lower,with LH and FSH less than 1 IU/L;While the sex hormones of MRKH syndrome and autosomal abnormality are in normal range.Conclusions:Chromosome abnormality is one of the important reasons of primary amenorrhea,in which sex chromosome abnormality is the most common,including Turner’s syndrome and Swyer’s syndrome,while the chromosome karyotype of MRKH syndrome,Kallmann’s syndrome and IHH are normal in our study.Therefore the conventional karyotype examination in patients with primary amenorrhea should be suggested.Early etiological diagnosis should be made in order to provide the basis for clinical management of primary amenorrhea.