Turner syndrome, also known as female congenital hypogonadism or congenital ovarian hypoplasia, has a prevalence of 1 in 2,500 newborn girls, up to 7.5% of spontaneously aborted embryos, and 1 in 3 patients with primary amenorrhea. nearly 99% of Turner embryos are aborted early in pregnancy, and intrauterine mortality is approximately 65% between 12 and 40 weeks of gestation. The intrauterine mortality rate is about 65%. The typical karyotype is 45X, accounting for about 55% of cases. The other karyotypes that cause Turner syndrome include 45X/46XX, 45X/46XX/47XXX, 45X/46XY, a structurally abnormal X chromosome and its chimerism. Diagnostic criteria] (1) Clinical manifestations: The clinical manifestations of Turner syndrome are diverse depending on the karyotype. Short stature and gonadal hypoplasia are the main manifestations of most patients. The average height of patients in adulthood is 3675px, and those who use growth hormone in childhood can increase their height. Intelligence is generally normal, but often lower than that of their siblings. Patients often have webbed necks, ptosis, low hairline, sparse pubic hair, no axillary hair, and infantile external genitalia. About 15%-50% of patients have a combination of cardiovascular anomalies, with aortic constriction and ventricular septal defect being the most common. About 1/3 of patients have a combination of horseshoe kidney or renal hypoplasia. (2) Ultrasonography: The size of uterus and ovaries significantly lags behind their peers. Echocardiography and renal ultrasound can assist in the diagnosis of combined cardiovascular and renal malformations. (3) Laboratory tests: Serum follicle stimulating hormone (FSH) and luteinizing hormone (LH) were significantly elevated, while estradiol (E2) levels were decreased. Peripheral blood chromosome examination can clarify various karyotypes. The majority of women with Turner syndrome are infertile. Patients with milder chimerism can conceive, but the incidence of miscarriage, stillbirth and abnormal karyotype of fetus is high. (1) Patients, couples who have already given birth to an affected child, are advised to refer to a medical institution that has established a genetic counseling clinic. (2) Those who have given birth to (or miscarried) a 45X child and have a normal karyotype are at low risk of recurrence. Those with a 45X female partner rarely conceive spontaneously, and if they do, the risk of offspring with trisomy 21 and 45X is high. Women carrying rearranged X chromosome structure have a high risk of reoccurrence in the next generation. (3) Pre-conception karyotyping. Pregnancies in women at high risk should be diagnosed prenatally by chorionic villus sampling or amniocentesis. Preimplantation diagnosis (PGD) should be offered to patients who have difficulty conceiving naturally and expect to conceive through assisted reproductive technology. (4) Individuals with 46XY in their karyotype have residual gonads that are at risk for gonoblastoma and should be removed prophylactically.