Dysgerminoma i gonadoblastoma u dziewczynki o kariotypie 46, XY z dysgenezjÄ gonad

A case of 19-year-old girl with gonadal dysgenesia, 46, XY karyotype, who underwent surgical removal of a large tumour (4000 g) of the right gonad at the age of 14. Histopathological examination of the tumour revealed dysgerminoma. After 4 months left gonadectomy was performed; histopathological examination showed gonadoblastoma. The girl was treated according to the guidelines for germinal tumours. Status praesens: of the patient: height - 160 cm (10th-25th percentile), body weight - 52 kg (25th-50th percentile). Puberty stage (according to Tanner): breast development - 3°, pubic hair - 3°, axillary hair - 0°. Hormones serum levels: LH - 44.9 mIU/ml; FSH - 89 mIU/ml, TTE <0.2 ng/ml, E2 - 37.5 pg/ml, bony age - 16 ys. Densitometry: 16% bone loss comparing to the mean value for age (Z score - 1.3) - osteopenia (in 2007 years = 24% - Z score 2 - osteoporosis) Gynecological examination: normally developed labia majora and minora, normal size of clitoris. Narrow introitus vaginae, blind ending vagina. CT scanning: normal image of intra-abdominal organs. Treatment with estradiol since 2003.