Mixed gonadal dysgenesis, differencial diagnosis of primary amenorrhoea

The case report describes the of 16-year-old girl who came to pediatric-gynecologist's for primary amenorrhea. She was normal height 155 cm, with female external genitalia, secondary sexual characteristics according Tanner M2,A3,Ph 4. In ultrasound we detected uterus infantile type, without endometrium, ovaries not visualized. functional cytology only basal and para-basal cells. As part differential diagnosis amenorrhea were taken a hormonal profile, genetic examination. laboratory diagnosed hypergonadotropic hypogonadism, in examination mosaic karyotype 45 × 0/46XY. Concluded as mixed gonadal dysgenesis syndrome. Induction puberty started by gynecologist estrogens. Due karyotype, bilateral laparoscopic adnexectomy is indicated prevention tumor transformation dysgenetic gonads, especially gonadoblastoma. Intraoperatively striated gonads removed. Continued induction estrogens, added progestogens after sufficient growth. After stimulation, patient menstruates. Plan continue combined contraception. future, when planning pregnancy, it necessary use methods assisted reproduction donated oocyt. Mixed one possible causes amenorrhoea an incidence 1:15,000 live births. Its help testing. 1. Hořejší J, Kosová H: Dětská gynekologie, Praha, Mladá fronta, 2019, pp 177-179