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Gynecomastia and Its Management In Boys With Partial Androgen Insensitivity Syndrome.

Supitcha Patjamontri1,2, Angela K Lucas-Herald1, Jillian Bryce1

  • 1Developmental Endocrinology Research Group, University of Glasgow, Royal Hospital for Children, Glasgow G51 4TF, UK.

The Journal of Clinical Endocrinology and Metabolism
|August 30, 2024
PubMed
Summary

Gynecomastia is common in males with Partial Androgen Insensitivity Syndrome (PAIS) but not universal. Surgical management appears more effective than medical therapy for PAIS-associated gynecomastia.

Keywords:
I-DSD registryandrogen insensitivity syndromedisorders of sex developmentgynecomastia

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Area of Science:

  • Endocrinology
  • Genetics
  • Reproductive Health

Background:

  • Partial Androgen Insensitivity Syndrome (PAIS) is a rare condition.
  • Gynecomastia is frequently observed in males with PAIS.

Purpose of the Study:

  • To evaluate the management strategies for gynecomastia in males diagnosed with PAIS.
  • To compare the effectiveness of medical and surgical interventions for gynecomastia in PAIS patients.

Main Methods:

  • Retrospective review of male PAIS patients over 10 years old from the I-DSD registry.
  • Analysis of data from 57 eligible cases with confirmed androgen receptor gene variants.

Main Results:

  • Gynecomastia was present in 91% of genetically confirmed PAIS cases, with a median onset at 13.5 years.
  • Surgical management yielded significantly higher effectiveness scores (median 10) compared to medical therapy (median 3).
  • Micropenis was noted in 77% of cases with gynecomastia; spontaneous resolution was rare (6%).

Conclusions:

  • Gynecomastia is a highly prevalent condition in PAIS, though not universally present.
  • Surgical intervention is generally more effective for managing gynecomastia in PAIS than medical treatments.
  • Further standardized research is needed to optimize PAIS gynecomastia management.