ESPE Abstracts (2016) 86 P-P2-423

aDepartment of Endocrinology, Growth and Development, Children’s Hospital P &A Kyriakou, Athens, Greece; bDepartment of Oncology, Children’s Hospital of Athens P & A Kyriakou, Athens, Greece; cDepartment of Genetics, University of Athens, Athens, Greece

Background: 46XY DSD with female phenotype is classified as complete gonadal dysgenesis (46XY CGD) if a uterus is present or a disorder of androgen synthesis or action if a uterus is absent. The genetic causes of 46XY CGD are not fully clarified. Less than 15% of the cases were found to carry mutations of the sex determining region Y gene (SRY).

Purpose: The description of the rare case of two sisters affected of 46XY CPD and gonadoblastoma with SRY mutations.

Patients and methods: An 11-year old-girl was referred after she palpated an abdominal mass. She was born to non-consaguinous parents and her past medical history was unremarkable. On physical exam she had normal external female genitalia, breasts Tanner I axillary and pubic hair Tanner II. Ultrasonography revealed a right adnexal mass, which was surgically removed and pathology was consistent with gonadoblastoma. Karyotype was 46,XY. A left ovariectomy was performed and she underwent chemotherapy. Her sister’s karyotype analysis was also XY. She was closely monitored with pelvic ultrasounds every 3 months and an engorgement of the right ovary was appreciated a bilateral gonadectomy was performed. The result of the histopathological analysis revealed a dysgerminoma on the ground of gonadoblastoma. She also underwent chemotherapy. A molecular analysis revealed a deficit at the HMG region of the Y chromosome, in both sisters, which constitutes a rare observation. At present, both of the girls are in a good health receiving hormonal substitution.

Conclusion: SRY gene is an essential factor to initiate testicular development from a bipotent gonad. Mutations of the SRY gene are responsible for a number of patients affected with 46XY gonadal dysgenesis and should be investigated.

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