Dr. med. Dirk Manski

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Diagnosis and Treatment of Gonadoblastoma


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

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.

Index: 1–9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z


Kathrins M, Kolon TF. Malignancy in disorders of sex development. Transl Androl Urol 2016;5(5):794-798. doi: 10.21037/tau.2016.08.09

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