Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype

Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype

Individuals with 45,X/46,XY karyotype are at increased risk for germ cell tumor development. We report a case with a diagnosis of 45,X/46,XY gonadal dysgenesis who presented with short stature, physical stigmata of Turner syndrome. Her pubertal development was at Tanner stage 3. At follow-up, bilateral prophylactic gonadectomy was performed when considering the risk factors. Pathological assess...

Ovarian Gonadoblastoma with Dysgerminoma in a Young Girl with 46, XX Karyotype: A Case Report.

Gonadoblastoma is a rare gonadal tumour consisting of a mixture of germ cells and sex cord stromal derivatives resembling immature granulosa and Sertoli cells. It usually arises in various types of gonadal dysgenesis containing Y chromosome like pure or mixed gonadal dysgenesis. Occurrence in phenotypically and chromosomally normal women is very rare. We report here a case of gonadoblastoma wit...

Obstetric outcomes in women with Turner karyotype.

CONTEXT Women with Turner syndrome (TS) have high risk of cardiovascular complications and hypertensive disorders. Few studies have analyzed obstetric outcome in women with TS. OBJECTIVE This study compared obstetric outcome in women with TS karyotype with women in the general population. DESIGN The Swedish Genetic Turner Register was cross-linked with the Swedish Medical Birth Register bet...

Dysgerminoma and Gonadoblastoma with Para-aortic Lymph Node Metastasis in a Patient with Swyer Syndrome

Bilateral gonadoblastoma/dysgerminoma in a 46 XY individual: case report with hormonal studies.

A case of bilateral gonadoblastoma/dysgerminoma in a 46 XY phenotypical female is presented. Increased circulating beta human chorionic gonadotropin (beta-HCG) and testosterone together with a decreased concentration of follicle stimulating hormone (FSH) reflected the activities of these tumours. The patient is alive and well three years later, after treatment by surgery and cobalt therapy.