case1
A 25-year-old female was admitted to out patient clinic for investigation of primary amenorrhea. Physical examination revealed a female with normal external genitalia with the absence of uterus and cervix. The blind vagina was 3 cm long. Digital rectal examination revealed a large firm mass in he mid-pelvis. A computerized tomography of the pelvis showed a solid mass measured 11x12 cm in mid-pelvis.
case2
14세 여아가 아직까지 menstruation이 없었다. breast development는 Tanner stage 4 but sparse pubic hair.notable findings include inguinal masses가 있다
1)진단명은?
Androgen insensitivity syndrome
2)해야할 검사는?
karyotype
Levels of testosterone and DHT
Mutation analysis of the androgen receptor gene
3)위 환자에게서 발생할 수 있는 가장 가능성 있는 cancer?
seminoma
4)cancer 유발 가능성을 위해서 해야할일?
For individuals with AIS, the standard of care is an orchidectomy to prevent possible malignant degeneration of the testes. The timing of such surgery has been debated. Historically, early surgery was assumed preferable to avoid raising uncomfortable psychosexual issues during adolescence or young adulthood. More recently, surgery during the late teenage years or early 20s has been preferred. Later orchidectomy allows pubertal development to occur spontaneously with the production of estrogen from the aromatization of the high levels of testosterone normally produced.
In addition, many women with AIS require vaginal lengthening procedures. Orchidectomy and vaginal lengthening procedures may be performed concurrently if surgery is postponed until the patient matures. Ultrasound examination of the gonads can monitor potential tumor development.
