eMedicine Specialties > Pediatrics: General Medicine > Oncology

Gonadoblastoma: Treatment & Medication

Author: Joseph L Lasky III, MD, Clinical Assistant Professor, Department of Pediatrics, Division of Hematology and Oncology, Mattel Children's Hospital UCLA
Coauthor(s): Kathleen M Sakamoto, MD, PhD, Professor and Chief, Division of Hematology-Oncology, Vice-Chair of Research, Mattel Children's Hospital at UCLA; Department of Pathology and Laboratory Medicine, Jonsson Comprehensive Cancer Center, David Geffen School of Medicine at UCLA and California Nanosystems Institute and Molecular Biology, UCLA; Dimitri Kuznetsov, MD, Staff Physician, Department of Surgery, Section of Urology, University of Chicago; Nejd F Alsikafi, MD, Clinical Associate, Department of Urology, Mount Sinai Hospital; William J Cromie, MD, MBA, President and Chief Executive Officer, Health Care, Capital District Physicians' Health Plan
Contributor Information and Disclosures

Updated: Nov 26, 2008

Treatment

Medical Care

  • After the intersex disorder is characterized, the treatment of gonadoblastoma is surgical. Thereafter, patients must be observed by an endocrinologist, who supplements any deficiencies in gonadal or adrenal function.

Surgical Care

  • In patients with mixed gonadal dysgenesis, perform bilateral gonadectomy soon after establishing the diagnosis.
    • In a review of 140 patients with dysgenic gonads, Troche and Hernandez (1986) found that the neoplastic transformation of abnormal gonads was common, and bilateral involvement occurred in 38.6% of patients.3
    • Patients with mixed gonadal dysgenesis (45,X/46,XY) have an incidence of developing gonadoblastoma of 30-66%. Therefore, most authorities recommended performing bilateral gonadectomy as soon as the diagnosis of gonadal dysgenesis is made.
  • In patients with complete androgen insensitivity and male pseudohermaphroditism (46,XY) with normal phenotypic genitalia, Rutgers and Scully (1991) recommended that gonadectomy be performed after puberty but before the individual is aged 20 years.7
    • This opinion is based on the negligible risk of finding gonadoblastoma in these patients before puberty. However, the overall risk of developing a seminoma/dysgerminoma is 9%; therefore, perform gonadectomy before the individual is aged 20 years.
    • In patients with partial androgen insensitivity and male pseudohermaphrodism (46,XY), the phenotypes are frequently unpredictable, and gonadectomy is recommended early in conjunction with any other procedure that may be required.
    • Additionally, 2 other reasons explain why patients with the complete form of androgen insensitivity should have gonadectomy performed after puberty. The reasons are as follows:
      • First, these patients usually receive the diagnosis after puberty when they present with primary amenorrhea.
      • Second, intra-abdominal testicular tissue allows for normal breast development, which allows these phenotypic (46,XY) girls to go through "normal" puberty. This mechanism is initiated when the pituitary release of gonadotropic hormones stimulates the production of testosterone by the testes. Being completely androgen insensitive, the ability to recognize the elevated testosterone concentration does not exist, and the biofeedback mechanism fails to function appropriately, resulting in constant elevated levels of serum LH and testosterone. In the peripheral adipose tissues, testosterone is converted by aromatase to 17-beta-estradiol. The high levels of 17-beta-estradiol allow for normal breast development and the overall feminization of the individual.
  • Patients with Turner syndrome have been reported to have anywhere from 5-12% incidence of XY mosaicism. Debate remains as to whether screening all patients with Turner syndrome stigmata for the presence of Y chromosome mosaicism is worthwhile. No consensus has been reached regarding the necessity of performing prophylactic gonadectomies on all patients with Turner syndrome. However, in the presence of virilizing symptoms in a patient with Turner syndrome, looking for a Y chromosome is probably indicated. If found, these patients should undergo prophylactic gonadectomy, as the incidence of gonadoblastoma development in these patients has been reported to be as high as 30%.
  • Individualize the surgical approach to gonadectomy based on the patient's particular anatomy.
    • After clearly defining the intersex syndrome, a transscrotal/translabial, inguinal, or transabdominal approach can be used to perform the gonadectomy.
    • If the intersex syndrome or the patient's anatomy has not been established clearly, a transabdominal exploration can help to delineate the unpredictable anatomic variability of each individual.

Consultations

  • Obtain a consultation with a pediatric urologist when any suspicion of an intersex disorder is noted. Often the neonatal anatomy is difficult to diagnose with imaging studies alone, and cystoscopy and vaginoscopy may need to be performed.
  • A consultation with a clinical geneticist can also be useful in patients who do not have a clearly defined genotype.
  • Obtain an endocrinology evaluation to manage life-long hormone replacement needs.
  • Patients with complete androgen insensitivity and male pseudohermaphroditism (46,XY) who receive the diagnosis late (eg, after puberty) should have a consultation with a surgeon for removal of the abnormal gonadal tissue.
  • Although not directly pertaining to gonadoblastoma, an ethics consultation is often needed to help define the best treatment plan for children with intersex disorders.

Diet

  • After surgery, start a clear liquid diet as soon as the patient regains normal bowel function and appropriately advance the diet.

Activity

  • Patients are out of bed on postoperative day 1 and resume full normal activity 4 weeks after surgery.

Medication

  • Hormone replacement is initiated in a patient-by-patient basis. The endocrinologist manages the dosing and frequency of administration.

More on Gonadoblastoma

Overview: Gonadoblastoma
Differential Diagnoses & Workup: Gonadoblastoma
Treatment & Medication: Gonadoblastoma
Follow-up: Gonadoblastoma
References
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References

  1. Scully RE. Gonadoblastoma. A review of 74 cases. Cancer. Jun 1970;25(6):1340-56. [Medline].

  2. Gravholt CH, Fedder J, Naeraa RW, Muller J. Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study. J Clin Endocrinol Metab. Sep 2000;85(9):3199-202. [Medline]. [Full Text].

  3. Troche V, Hernandez E. Neoplasia arising in dysgenetic gonads. Obstet Gynecol Surv. Feb 1986;41(2):74-9. [Medline].

  4. Tsuchiya K, Reijo R, Page DC, Disteche CM. Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome. Am J Hum Genet. 1995;57(6):1400-7. [Medline].

  5. Li Y, Lau YF. TSPY and its X-encoded homologue interact with cyclin B but exert contrasting functions on cyclin-dependent kinase 1 activities. Oncogene. Jun 30 2008;[Medline].

  6. Kido T, Lau YF. The human Y-encoded testis-specific protein interacts functionally with eukaryotic translation elongation factor eEF1A, a putative oncoprotein. Int J Cancer. Oct 1 2008;123(7):1573-85. [Medline].

  7. Rutgers JL, Scully RE. The androgen insensitivity syndrome (testicular feminization): a clinicopathologic study of 43 cases. Int J Gynecol Pathol. 1991;10(2):126-44. [Medline].

  8. Brant WO, Rajimwale A, Lovell MA, et al. Gonadoblastoma and Turner syndrome. J Urol. May 2006;175(5):1858-60. [Medline].

  9. Chen MJ, Yang JH, Mao TL, et al. Successful pregnancy in a gonadectomized woman with 46,XY gonadal dysgenesis and gonadoblastoma. Fertil Steril. Jul 2005;84(1):217. [Medline].

  10. Frias JL, Davenport ML. Health supervision for children with Turner syndrome. Pediatrics. Mar 2003;111(3):692-702. [Medline].

  11. Gourlay WA, Johnson HW, Pantzar JT, et al. Gonadal tumors in disorders of sexual differentiation. Urology. Apr 1994;43(4):537-40. [Medline].

  12. Kido T, Lau YF. A Cre gene directed by a human TSPY promoter is specific for germ cells and neurons. Genesis. Aug 2005;42(4):263-75. [Medline].

  13. Lau YF. Gonadoblastoma, testicular and prostate cancers, and the TSPY gene. Am J Hum Genet. Apr 1999;64(4):921-7. [Medline].

  14. Levin HS. Tumors of the testis in intersex syndromes. Urol Clin North Am. Aug 2000;27(3):543-51, x. [Medline].

  15. Mendes JR, Strufaldi MW, Delcelo R, et al. Y-chromosome identification by PCR and gonadal histopathology in Turner's syndrome without overt Y-mosaicism. Clin Endocrinol (Oxf). Jan 1999;50(1):19-26. [Medline].

  16. Pena-Alonso R, Nieto K, Alvarez R, et al. Distribution of Y-chromosome-bearing cells in gonadoblastoma and dysgenetic testis in 45,X/46,XY infants. Mod Pathol. Mar 2005;18(3):439-45. [Medline].

  17. Rutgers JL, Scully RE. Pathology of the testis in intersex syndromes. Semin Diagn Pathol. Nov 1987;4(4):275-91. [Medline].

  18. Sultana R, Myerson D, Disteche CM. In situ hybridization analysis of the Y chromosome in gonadoblastoma. Genes Chromosomes Cancer. Aug 1995;13(4):257-62. [Medline].

  19. Tewari K, Cappuccini F, Disaia PJ, et al. Malignant germ cell tumors of the ovary. Obstet Gynecol. Jan 2000;95(1):128-33. [Medline].

  20. Vlasak I, Plochl E, Kronberger G, et al. Screening of patients with Turner syndrome for "hidden" Y-mosaicism. Klin Padiatr. Jan-Feb 1999;211(1):30-4. [Medline].

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Further Reading

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Keywords

gonadoblastoma, intersex disorders, germinoma, seminoma, gonadal dysgenesis, complete androgen insensitivity, male pseudohermaphrodites, male pseudohermaphroditism, male pseudohermaphrodism, mixed gonadal dysgenesis, Turner syndrome, Turner's syndrome, germ cell tumors, testicular seminoma, amenorrhea, clitoromegaly, abnormal hirsutism, inguinal hernias, hypoplastic vagina

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Contributor Information and Disclosures

Author

Joseph L Lasky III, MD, Clinical Assistant Professor, Department of Pediatrics, Division of Hematology and Oncology, Mattel Children's Hospital UCLA
Joseph L Lasky III, MD is a member of the following medical societies: American Association for Cancer Research, American Society of Clinical Oncology, American Society of Pediatric Hematology/Oncology, Children's Oncology Group, and Society for Neuro-Oncology
Disclosure: Nothing to disclose.

Coauthor(s)

Kathleen M Sakamoto, MD, PhD, Professor and Chief, Division of Hematology-Oncology, Vice-Chair of Research, Mattel Children's Hospital at UCLA; Department of Pathology and Laboratory Medicine, Jonsson Comprehensive Cancer Center, David Geffen School of Medicine at UCLA and California Nanosystems Institute and Molecular Biology, UCLA
Kathleen M Sakamoto, MD, PhD is a member of the following medical societies: American Society of Hematology, American Society of Pediatric Hematology/Oncology, New York Academy of Sciences, Society for Pediatric Research, and Western Society for Pediatric Research
Disclosure: Nothing to disclose.

Dimitri Kuznetsov, MD, Staff Physician, Department of Surgery, Section of Urology, University of Chicago
Dimitri Kuznetsov, MD is a member of the following medical societies: American Urological Association and Endourological Society
Disclosure: Nothing to disclose.

Nejd F Alsikafi, MD, Clinical Associate, Department of Urology, Mount Sinai Hospital
Nejd F Alsikafi, MD is a member of the following medical societies: American Urological Association and Endourological Society
Disclosure: Nothing to disclose.

William J Cromie, MD, MBA, President and Chief Executive Officer, Health Care, Capital District Physicians' Health Plan
William J Cromie, MD, MBA is a member of the following medical societies: American Academy of Pediatrics, American College of Surgeons, American Medical Association, American Urological Association, Medical Society of the State of New York, Société Internationale d'Urologie (International Society of Urology), Society for Pediatric Urology, Society of University Urologists, and Society of Uroradiology
Disclosure: Nothing to disclose.

Medical Editor

Stephan A Grupp, MD, PhD, Director, Stem Cell Biology Program, Department of Pediatrics, Division of Oncology, Children's Hospital of Philadelphia; Associate Professor of Pediatrics, University of Pennsylvania
Stephan A Grupp, MD, PhD is a member of the following medical societies: American Association for Cancer Research, American Society for Blood and Marrow Transplantation, American Society of Hematology, American Society of Pediatric Hematology/Oncology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

Timothy P Cripe, MD, PhD, Professor of Pediatric Hematology/Oncology, University of Cincinnati; Director, Translational Research Trials Office, Department of Pediatrics, Cincinnati Children's Hospital Medical Center
Timothy P Cripe, MD, PhD is a member of the following medical societies: American Association for the Advancement of Science, American Pediatric Society, American Society of Hematology, American Society of Pediatric Hematology/Oncology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

CME Editor

Helen SL Chan, MBBS, FRCP(C), FAAP, Senior Scientist, Research Institute; Professor, Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Canada
Helen SL Chan, MBBS, FRCP(C), FAAP is a member of the following medical societies: American Academy of Pediatrics, American Association for Cancer Research, American Society of Hematology, and Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA, Executive Director, Center for Cancer and Blood Disorders, Children's National Medical Center; Professor of Medicine, Oncology, and Pediatrics, Georgetown University
Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American Association for Cancer Research, American Society of Pediatric Hematology/Oncology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

 
 
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