Gonadoblastoma Treatment & Management

  • Author: Joseph L Lasky III, MD; Chief Editor: Max J Coppes, MD, PhD, MBA   more...
 
Updated: Aug 11, 2010
 

Medical Care

After the DSD or other high-risk condition 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.

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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.[12]
    • 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.[16]
    • 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 6-9% 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 43%.
  • Individualize the surgical approach to gonadectomy based on the patient's particular anatomy.
    • After clearly defining the DSD, a transscrotal/translabial, inguinal, or transabdominal approach can be used to perform the gonadectomy.
    • If the DSD or the patient's anatomy has not been established clearly, a transabdominal exploration can help to delineate the unpredictable anatomic variability of each individual.
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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.
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Diet

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

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Activity

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

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Contributor Information and Disclosures
Author

Joseph L Lasky III, MD  Clinical Assistant Professor of Pediatrics and Neurosurgery, University of California, Los Angeles, David Geffen School of Medicine; Physician Specialist, Division of Pediatric Hematology/Oncology, Harbor-UCLA Medical Center

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; Co-Associate Program Director of the Signal Transduction Program Area, Jonsson Comprehensive Cancer Center, David Geffen School of Medicine at UCLA and California Nanosystems Institute and Molecular Biology Institute, UCLA

Kathleen M Sakamoto, MD, PhD is a member of the following medical societies: American Society of Hematology, American Society of Pediatric Hematology/Oncology, International Society for Experimental Hematology, 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.

Specialty Editor Board

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.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

Timothy P Cripe, MD, PhD  Professor of Pediatrics, Division of Hematology/Oncology, University of Cincinnati College of Medicine; Clinical Director, Musculoskeletal Tumor Program, Co-Medical Director, Office for Clinical and Translational Research, Director of Pilot and Collaborative Clinical and Translational Studies Core, Center for Clinical and Translational Science and Training, 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.

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  Senior Vice President, Children's National Medical Center (Center for Cancer and Blood Disorders); Director, Center for Cancer and Immunology Research, Children's Research Institute, 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, Idaho Medical Association, and Society for Pediatric Research

Disclosure: Nothing to disclose.

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