ESPE Abstracts

Background: Turner syndrome has a variety of different karyotypes, with a wide range of phenotypic features, but the specific karyotype may not always predict the phenotype. TS with Y chromosome mosaicism may have mixed gonadal dysgenesis, and the mosaicism is related to the potential for gonadoblastoma. Our case is a mosaic Turner syndrome patient with gonadoblastoma.

Case Summary: A 14-year-old girl was admitted to the emergency room due to abdominal pain, which resulted in right ovarian mass. While being examined yolk sac tumor and gonadoblastoma are detected in the right ovary and after left ovary biopsy gonadoblastoma is detected in the left ovary. Her breasts were Tanner 3 stage and she had pubic and underarm hair. The patient did not have hirsutism. She had not yet menstruated. Examination of the external genitalia showed a normal female vulva, with separate urethral and vaginal orifices and no clitoromegaly. Weight: 68 kg (SDS:1.59) height: 158cm (-0.74SDS) She had no body deformities that seen in turner syndrome, no abnormalities were noted in her renal, liver, cardiac, and major vascular structures. We confirmed that her karyotype was 45,X[23]/46,X,i(Y)(p10)[27]. FISH analysis included 200 cells using X and Y probes, with 152 cells containing XYY chromosomes and 48 cells containing one X chromosomes. The chromosome analysis of gonad biopsy material was 45X The markers were AMH at 0.25 ng/mL, FSH at 109,3 IU/mL, LH at 31 IU/mL, and Estradiol at 5.0 pg/mL. These results confirmed that the patient had primary ovarian insufficiency, which is consistent with TS. After diagnosis, She had Right oophorectomy, Peritoneal biopsy, Left Ovarian Biopsy, Left Oohoropexy and Pathological Diagnosis was detected as Yolk Sac Tumor (<%5) and Gonadoblastoma in righ gonad. One month later, She had Left salpingooopherectomy and Right Tuba Excision. Pathological Diagnosis was godadoblastoma in left gonad and normal histological findings in bilateral tuba uterine. The patient was treated with a three-weekly Bleomycin, Etoposide, and Cisplatin regimen. Currently, the patient has finished 4 cycles of this regimen and has been evaluated in the department of oncology, also subsequently hormone replacement therapy was started.

Conclus&idot;on: The mosaicism of Y chromosome sequences in TS is related to the potential for gonadoblastoma. The unusual thing the patient had no body deformities that seen in turner syndrome, only she had not yet menstruated, the question is how could TS be diagnosed earlier.