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A Management Protocol for Gonad Preservation in Patients with Androgen Insensitivity Syndrome

Erica M Weidler1, Maria E Linnaus2, Arlene B Baratz3

  • 1Division of Pediatric Surgery, Phoenix Children's Hospital, Phoenix, Arizona.

Journal of Pediatric and Adolescent Gynecology
|June 25, 2019
PubMed

Insights

Management of gonads in androgen insensitivity syndrome (AIS) is shifting. Current evidence suggests gonadectomy can be deferred, preserving hormonal benefits and fertility while respecting patient autonomy in differences of sex development.

Area of Science:

  • Endocrinology
  • Reproductive Medicine
  • Genetics

Background:

  • Historically, gonadectomy was standard for individuals with androgen insensitivity syndrome (AIS) to mitigate malignancy risk.
  • Recent shifts in clinical practice advocate for postponing gonadectomy until late adolescence.
  • This approach is questioned by adolescents and adults with complete AIS.

Purpose of the Study:

  • To review current knowledge on malignancy risk in different subtypes of AIS.
  • To propose a management protocol for gonad retention in AIS.
  • To address patient autonomy and the benefits of endogenous hormones and potential fertility.

Main Methods:

  • Review of recent literature on gonadal malignancy risk in AIS subtypes.
  • Analysis of data supporting risk stratification for gonad management.
  • Consideration of ethical and human rights perspectives on surgical deferral.

Main Results:

  • Testicular germ cell tumors are increasingly recognized as rare in molecularly confirmed AIS, with some studies reporting 0% incidence.
  • Gonadectomy deprives patients of essential endogenous hormones and potential fertility.
  • Risk stratification offers a more nuanced approach to managing gonads in AIS.

Conclusions:

  • Current evidence supports a risk-stratified approach to gonad management in AIS, moving away from routine early gonadectomy.
  • Deferring gonadectomy respects patient autonomy and preserves hormonal function and fertility.
  • Further research and individualized protocols are needed for optimal care in differences of sex development.
Keywords:
Androgen insensitivity syndromeGonadectomyGonadsMalignancy risk

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