アンドロゲン不応症に対して腹腔鏡下性腺摘出術を施行した1例

抄録

　Androgen insensitivity syndrome (AIS) is a 46,XY disorder of sex development. It is characterized by a female phenotype associated with resistance to the effects of androgens. Some cases of AIS require vaginoplasty; however, prophylactic gonadectomy is recommended because of the risk of gonadal germ cell malignancies.

　We present a case of complete AIS (CAIS) treated by laparoscopic gonadectomy. A 16-year-old phenotypical female who complained of primary amenorrhea was referred to our hospital. Physical examinations revealed the blind end of the vagina and female external genitalia. A magnetic resonance imaging scan showed bilateral pelvic masses, such as gonads, and the absence of a uterus. Hormonal examination revealed elevated serum testosterone (12.00 ng/mL). Her karyotype was 46,XY. Therefore, the patient was diagnosed with CAIS. She had no urination disorder, but an examination with an anesthetic revealed that the urinary meatus was abnormally located in front of the blind vagina. She underwent a laparoscopic gonadectomy. Both gonads showed testicular tissue and no malignancies.

　Laparoscopic surgery is minimally invasive compared with open surgery and is the first choice for gonadectomy. If vaginoplasty is needed, vaginal dilatation can damage the urethra; therefore, cooperation between other departments, such as the urology or plastic surgery department, is needed for safe vaginoplasty.