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Diagnosis and Treatment of Gonadoblastoma
Definition
Gonadoblastoma is a facultative hormone-producing tumor occurring in the gonads of intersex patients.
Epidemiology and Etiology of Gonadoblastoma
Due to the low incidence of disorders of sex development (DSD), less than 1% of all testicular tumors are gonadoblastoma. A high tumor risk exists in intersex patients with absent descensus testis and XY chromosome constellation or mosaicism with fragments of the Y chromosome: PAIS, 46,XY gonadal dysgenesis (Swyer syndrome), 45,X/46,XY mixed gonadal dysgenesis or Turner syndrome with mosaicism and fragments of the Y chromosome. Gonadoblastoma risk is only moderately increased risk in CAIS and ovotesticular DSD. Because a normal karyogram does not always detect all fragments of a Y chromosome, additional genetic testing (GBY region, TSPY gene) is helpful in DSD.
Pathology of Gonadoblastoma
Gonadoblastoma is a mixture of germ cell tumors and sex-cord stromal tumors (Leydig-cell tumor and Sertoli-cell tumor). Germ cell tumor cells may proliferate and show signs of malignancy (invasive germinoma or seminoma, gonadoblastoma with germinoma/seminoma).
Signs and Symptoms
The patients with DSD are mostly phenotypically female (80\,\%) with hypoplastic internal genitalia. Phenotypically male patients often have cryptorchidism or hypospadias. The tumor may cause virilization.
Diagnosis of Gonadoblastoma
- Hormone tests: testosterone, estrogene, LH, FSH, prolaktin.
- Tumor marker: HCG, AFP, LDH and PLAP
- Chromosome analysis (karyogram) and additional genetic testing to detect Y chromosome fractions (GBY region, TSPY gene).
- Imaging of the gonads: depending on localization with ultrasound imaging or MRI
- Staging: CT scan of abdomen and chest for invasive germinoma or seminoma
Treatment Before Puberty
Most invasive tumors arise after puberty, so current recommendations discourage prophylactic gonadectomy in the non-consenting child (Ethikrat, 2012). There is a need for close clinical and sonographic follow-up for early detection of suspicious changes. Unilateral gonadectomy or biopsy is recommended for abnormalities in imaging.
Treatment from Puberty Onwards
Patients can decide on their gender role and, if necessary, accept appropriate aligning surgery. Bilateral (laparoscopic) prophylactic gonadectomy with subsequent hormone therapy can be offered depending on the tumor risk and chosen gender role.
Treatment and Follow-up of Invasive Seminoma:
See section treatment of seminoma.
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References
Ramani u.a. 1993 RAMANI, P. ; YEUNG, C. K. ;
HABEEBU, S. S.:
Testicular intratubular germ cell neoplasia in children and
adolescents with intersex.
In: Am J Surg Pathol
17 (1993), Nr. 11, S. 1124–33
Deutsche Version: Diagnos und Therapie des Gonadoblastoms