Mixed gonadal dysgenesis, differencial diagnosis of primary amenorrhoea.

The case report describes the case of 16-year-old girl who came to the pediatric-gynecologist's for primary amenorrhea. She was of normal height 155 cm, with female external genitalia, secondary sexual characteristics according to Tanner M2,A3,Ph 4. In ultrasound we detected uterus of infantile type, without endometrium, ovaries not visualized. In functional cytology was only basal and para-basal cells. As part of the differential diagnosis of primary amenorrhea were taken a hormonal profile, genetic examination. In the laboratory was diagnosed hypergonadotropic hypogonadism, in genetic examination mosaic karyotype 45 × 0/46XY. Concluded as mixed gonadal dysgenesis syndrome. Induction of puberty started by the gynecologist with estrogens. Due to the karyotype, bilateral laparoscopic adnexectomy is indicated as prevention of tumor transformation of dysgenetic gonads, especially of gonadoblastoma. Intraoperatively striated gonads were removed. Continued induction of puberty with estrogens, added progestogens after sufficient growth. After hormonal stimulation, the patient menstruates. Plan to continue combined hormonal contraception. In the future, when planning a pregnancy, it is necessary to use methods of assisted reproduction with a donated oocyt. Mixed gonadal dysgenesis is one of the possible causes of primary amenorrhoea with an incidence of 1:15,000 live births. Its diagnosis is possible only with the help of genetic testing. [ABSTRACT FROM AUTHOR]