Understanding Androgen Insensitivity Syndrome (AIS)

A Comprehensive Guide to Diagnosis, Management, and Living with AIS

Endocrinology

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Last updated: Mar 24, 2025

What is AIS?

Androgen Insensitivity Syndrome (AIS) is a genetic condition that affects sexual development. It occurs when the body cannot respond properly to androgens (male hormones) due to a variation in the androgen receptor gene.

Types of AIS

  • Complete AIS (CAIS): Complete insensitivity to androgens
  • Partial AIS (PAIS): Partial response to androgens
  • Mild AIS (MAIS): Mild androgen resistance

Characteristics

Complete AIS

  • External female appearance
  • Female gender identity
  • Absence of uterus and ovaries
  • Presence of undescended testes
  • Lack of body hair
  • Normal breast development

Partial AIS

  • Varying degrees of genital development
  • Mixed masculine and feminine characteristics
  • Variable gender identity

Diagnosis

  • Genetic testing
  • Physical examination
  • Hormone level testing
  • Family history evaluation
  • Imaging studies

Management

Medical Care

  • Hormone replacement therapy
  • Regular monitoring
  • Psychological support
  • Surgical options when appropriate

Long-term Considerations

  • Bone health monitoring
  • Regular medical check-ups
  • Fertility counseling
  • Support group participation

Living with AIS

  • Understanding your condition
  • Building a support network
  • Regular medical care
  • Genetic counseling for family planning

Support Resources

  • AIS support groups
  • Mental health professionals
  • Genetic counselors
  • Endocrinology specialists

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