| Abstrakt: |
21 patients aged 16-20 with the kariotype 46, XY were studied. In 20 cases complete androgen insensitivity syndrome was diagnosed. All patients had normal female appearance and psychosexuality, well-developed breasts, sparse pubic and auxiliary hair, normal female external genitalia and short pseudovagina. In 15 patients unilateral (3) and bilateral (7) herniotomy in their childhood was described. Ultrasound examination in all cases revealed the absence of uterus. In 14 patients gonads were visualized in the pelvic area, unilaterally or bilaterally. In one patient with the kariotype 46, XY and following clinical characteristics: masculine build, normal female like pubic hair and psychosexuality, clitoromegaly, slightly developed breast and pseudovagina, incomplete androgen insensitivity syndrome was diagnosed. In all cases of complete androgen insensitivity syndrome after finishing puberty gonadectomy procedure was carried out, with a subsequent estrogen replacement therapy. Diagnostic of rare genetic pathologies, such as androgen insensitivity syndrome, with female phenotype and primary amenorrhea, is very important for avoiding developing of gonadoblastoma and the timely therapy. |
