| Objective:To analyze the characteristics of the diagnosis and treatment of androgen insensitivity syndrome (AIS).Method:we have made a retrospective analysis of the clinical date of 26 cases of AIS who were admitted into Zhe Jiang University Affiliated Women’s Hosipital from 2001 to 2015, and we summarized the diagnosis and treatment of the disease.Result:Five patients are partial androgen insensitivity syndrome(PAIS). All patients had a karyotype of 46, XY.3 patient went to doctor because of primary amenorrhea (60%),1 patient went to doctor because of sexual difficulties (20%),1 patient went to doctor because of vulva abnomality. All the patients has undeveloped breasts, thick axillary and pubic hair as a male in the shape of triangle and vulva malformation in different degree.4 patients have no vagina at all and 1 has a blind -ending vagina of 2cm in length. All the patients have big clitoris (1-4)cm in the length. The average level of Luteinizing hormone (LH) is (20.55±18.04) IU/L, follicle stimulating hormone (FSH) is (40.64±42.08)IU/L, testosterone (T) is (12.4±4.25) nmol/L, estrogen (E2) is (90.7±50.2) pmol/l, progesterone (P) is (2.34±0.53)nmol/L. It was found that 2 cases with bilateral gonads located in the pelvis(40%),2 in inguinal canal(40%)and 1 in the labia majora(20%). All the patients underwent bilateral gonadectomy,2 patients underwent vulva plastic surgery at the same time and 3 patients underwent the vaginoplasty surgery when they needed sexual activity. The pathological results are all testicular tissue,there was seminiferous phenomenon in 3 patients(40%) and no seminiferous phenomenon in the other 2 patients(60%). The other 21 patients are complete androgen insensitivity syndrome(CAIS). All the patients had a karyotype of 46, XY.19 patient went to doctor because of primary amenorrhea (90.4%),1 patient went to doctor because of inguinal mass (4.8%) and 1 patient went to doctor because of inguinal mass and amenorrhea the same time(4.8%). All the patients has breasts as a normal female,5 patients have sparse axillary and pubic hair (23.8%).16 patients have no axillary and pubic hair (76.2%). All the patients have a blind-ending vagina of (1-9)cm in length,and three patients had normal sexual activity among them. The average level of Luteinizing hormone (LH) is (28.9±10.8) IU/L, follicle stimulating hormone (FSH) is (25.8±28.1)IU/L, testosterone (T) is (14.27±13.1) nmol/L, estrogen (E2) is (92.05±67.0) pmol/l, progesterone (P) is (2.06±0.9)nmol/L.U/L.It was found that 18 cases with bilateral gonads located in the pelvis(40%),3 in inguinal canal(40 %)and 1 in the labia majora(20%).2 patients did not undergo the surgery,the other 19 patients underwent bilateral gonadectomy. The pathological results of 17 patients were testicular tissue(89.4%),1 were primordial gonad tissue(5.3).there was bilateral oviduct tissue in 6 patients(31.6%) and hamartoma-like tissue in 3 patients(15.8%). All the 24 patients did the ultrasound exam,and 5 among them did MRI exam. According to the surgery and the pathological results,there were 46 testes,1 primary uterus and 1 primary gonad tissue. Ultrasonud exam suggested the presence of 3 uterus and 35 testes in total,misdiagosed the presence of uterus in 2patients (8.3%) and missed 11 testes (23.9%) in total.MRI revealed all the 8 testes and misdiagonosed 0 uterus in all.Conclusion:We should combine the symptom,physical examination,imaging result,chromosme and pathological result to make the diagnosis of androgen insensitivity syndrome. MRI is considered higher accuracy in the evaluation of absence of uterus and the location of testes.The key of treatment is to do essential psychological intervention before the operation,choose timing of gonadectomy surgery and vagina reconstruction and hormone replacement therapy. |
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