Objective:To explore genetic counseling and prenatal diagnosis strategies for women who have androgen insensitivity syndrome (AIS) family history or pregnancy history of AIS proband.Methods:Three families of complete AIS (CAIS) were retrospectively reported and summarized. The subsequent pregnancies and processes of prenatal diagnosis were followed up.Results:Among three CAIS families, one family had androgen receptors (AR) gene mutation diagnosis; the other two families were diagnosed clinically without gene diagnosis. All three mothers of CAIS probands were in pregnant again when they sought counseling, with gestational weeks between 7－13 weeks. They underwent chorionic villi sampling or amniocentesis in their second trimester (at 12, 16, 17 weeks respectively). Chromosome gender of all three fetuses were 46,XY, which was inconsistent with the ultrasonographic phenotype of external genitalia. All patients chose selective abortion in their second trimester. The external genitalia of all aborted fetuses were female phenotype, which supported the diagnosis of CAIS.Conclusion:Genetic counseling and prenatal diagnosis should be provided to high-risk patients with family history of AIS or proband pregnancy history, so as to achieve the goal of good childbearing and sound childrearing.

Objective To investigate efficient diagnosis and treatment of 17α-hydroxylase (17OHD) deficiency by summarizing clinical characteristics of those patients.Methods From January 1983 to January 2010,48 cases with 17OHD in Peking Union Medical College Hospital were studied retrospectively.Results Among 48 patients with 17OHD,karyotype analysis showed,12 cases with 46,XX and 36 cases with 46,XY.The 46,XX karyotype and 46,XY karyotype with complete 17OHD had typical clinical presentation of amenorrhea [ 12/12,100％ ( 36/36 ) ],no typical spontaneous puberty [ 12/12,13.9％ (5/36) ],Hypertension [ 11/12,100％ ( 36/36 ) ],hypokalemia [ K +:( 2.6 ± 0.7 ),( 2.8 ± 0.7 )mmol/L],hypergonadotropin [ follicle-stimulatinghormone ( FSH ):( 51 ± 35 ),( 79 ± 46 ) U/L,luteinizing hormone( LH ):( 27 ± 14 ),(49 ± 37 ) U/L ],impaired production of sex hormones [ testosterone(T):0.003,0.005 nmol/L; estradiol ( E2 ):26.86,10.64 pmol/L ],hyper-progesterone [ (P):( 32 ± 15 ),( 29 ± 23) nmol/L],impaired production of 17α-hydroxyprogesterone ( 17α-OHP ) [ ( 2.5 ± 1.1 ),( 2.4 ±1.7) nmol/L],ACTH hypersecreation (91.8,114.0 pmol/L).ACTH stimulating test did not elevated in 17α-OHP and cortisol.Conclusion When patients with elevated basal serum levels of progesterone higher than that of ovulation period in addition to clinical symptoms,examination about 17OHD should be warranted.

Objective To identify the potential neoplastic risk in gonadal development abnormality with Y chromosome.Methods Inquiries about the illness history were made.Lymphocyte chromosoreal karyotype of peripheral blood Was analyzed.Sex determining region Y gene and relative steroids and enzymes were detected.Gonadal site was examined through medical imaging.Conadal excision Was performed by laparotomy or laparoscopy.Pathological examinations were done on all of the specimens.Results Among 41 cases of androgen insensitive syndrome,spermatogenie cell neoplasm occurred in 1 patient,sertoli cell tumor in 2,and interstitial cell hyperplasia in 5.Among 14 cases of 17a.hydroxylase deficiency(XY)syndrome,one was sertoli eell tumor,and one Was sertoli cell hyperplasia.In 4 cases of XY pure gonadal dysgenesis.one was gonadoblastoma with dysgerminomm One of 16 cases of X0/XY gonadal dysgenesis Was spermatogenic cell neoplasm with agenda cell tumor.Four cases of testes degeneration were all with dysgenetic testes.All of the gonadoblastoma and germ-cell tumor were located in the pelvis.Tumors occurred mostly during 15 years of age to 32 years.Conclusions The gonads of XY pure gonadal dysgenesis has high risks of gonadoblastoma and germ-cell tumor.The older the onset age after puberty. the higher the malignancy risk is.Once diagnosed,bilateral gonads should be excised as soon as possible.

Objective To analyze the incidence of endometriosis in inpatients with infertility in Peking Union Medical College Hospital in 30 years. Methods The inpatients of Peking Union Medical College Hospital admitted between May 1983 and November 2013 was searched. The infertile patients receiving laparoscopy or laparotomy were included. The discharge diagnosis and the operation were summarized. The incidence of gynecologic diseases were demonstrated, such as endometriosis, pelvic adhesions, uterine fibroid, hydrosalpinx, ovarian benign tumor, and adenomyosis. The age was collected, and the change of age and the incidence of endometriosis was analyzed. Results The incidence of endometriosis in infertile female inpatients was 35.50%(95%CI:34.50%-36.49%). The incidence showed relatively stable increasing tendency after 2004 (with P<0.01). The age had increased significantly since 1996 (with P<0.01);the average age was (29.76±3.74) years old in 1996, and (32.85±4.49) years old in 2013 (P<0.01). The inpatients diagnosed with endometriosis had greater age, (32.67 ± 4.06) versus (32.04 ± 4.55) years old (P<0.01);the incidence of endometriosis differed in different age group, the older group had higher incidence (χ2=85.807, P<0.01). Conclusions Infertile female inpatients showed increasing incidence of endometriosis in recent years. Older infertile patients maybe have higher risk of endometriosis.

Objective To evaluate the relationship between endometriosis fertility index (EFI) and pregnancies after laparoscopic surgery in endometriosis-associated infertility.Methods From Jan.2005 to Jan.2010,medical documents of 350 infertile patients due to endometriosis undergoing laparoscopic surgery were studied retrospectively.Pregnancy outcomes were followed up by telephone.EFI was calculated by history factors,least function score and some aspects of the revised American Fertility Society (r-AFS) endometriosis stage.The cumulative pregnancy rate was calculated and compared by Kaplan-Meier survival analysis.Results Within 3 years after surgery,the cumulative pregnancy rates among patients with EFI score 8,9,10 were 62.5％,69.8％ and 81.1％,respectively.There was no significant difference in pregnancy rates among those three groups of patients ( P =0.24 ).The cumulative pregnancy rates among patients with EFI score 5,6,7 were 49.8％,43.9％ and 41.6％,respectively,which did not reach statistical difference ( P =0.83 ).The cumulative pregnancy rates of EFI score 8 - 10 was significantly higher than that of EFI score 5 -7 (71.8％ vs.44.4％,P =0.000).The patients with EFI score 0 -4 was quite small with only 33 cases,among which 15 cases were pregnant.Conclusions There is relationship between EFI and pregnancy in patients with endometriosis-associated infertility.EFI is meaningful to guide post surgical treatment.

Objective: To explore the importance of the diagnosis and treatment value of laparoscopy and hysteroscopy in patients with unexplained infertility. Methods: A total of 519 cases diagnosed as unexplained infertility, received laparoscopy and hysteroscopy in Peking Union Medical College Hospital from May 2012 to December 2015. The causes of infertility were evaluated, and the subjects were followed up to observe the nature pregnancy rate. Results: Among 519 unexplained infertility patients, pelvic abnormalities had been explored in 466 (89.8%, 466/519) cases. Pelvic endometriosis combined with adhesions, pelvic adhesion alone, uterine leiomyoma and uterine cavity polyp were 72.4% (376/519), 12.3% (64/519), 3.7% (19/519) and 1.3% (7/519) respectively. The total natural pregnancy rate within the 3 years of follow up was 53.9% (208/386), and the natural pregnancy rate was 29.8% (31/104) in patients aged 35 years and over. Conclusions The patients with clinical diagnosis of unexplained infertility should be examined by hysteroscopy and laparoscopy. Under the examination, the causes of infertility could be found more intuitively, and targeted treatment could be carried out to improve the pregnancy rate. The natural pregnancy rate of the elderly patients decrease obviously after operation, and the time of natural trying pregnancy should not be too long.