Partial Androgen Insensitivity Syndrome (PAIS)

View a glossary of key terms and definitions commonly used in discussions about sex development. 

What is PAIS? 

Partial Androgen Insensitivity Syndrome (PAIS) is a genetic condition characterized by a partial response of the body to testosterone, despite having 46,XY chromosomes and functional testes that produce this hormone. Individuals with PAIS typically have external genitalia that appear atypical or nonbinary due to the decreased function of the testosterone receptor.

What Causes PAIS? 

PAIS is primarily caused by a mutation or alteration in the androgen receptor gene (AR), impairing its normal function. This genetic change results in individuals having the ability to produce testosterone but experiencing only partial responsiveness to it. PAIS can be inherited within families or arise spontaneously in an individual.

How is PAIS Diagnosed? 

Diagnosis of PAIS often occurs shortly after birth when atypical or nonbinary genitalia are observed. Additional testing may be conducted to confirm the condition, including genetic testing to identify mutations in the androgen receptor gene.

How is PAIS Treated? 

Treatment approaches for PAIS focus on addressing both the physical and psychological aspects of the condition:

• Psychological support: Counseling and support services are essential for individuals and families to navigate the challenges associated with PAIS.
• Gonadal management: Due to an increased risk of tumor development, discussion of gonadal management, which may involve the removal of gonads, is crucial.
• Hormone supplementation: Hormone therapy, such as estrogen or testosterone supplementation, may be recommended depending on individual circumstances, particularly if gonads are removed.
• Surgery: Surgical intervention on the external genitalia is rarely urgent and is approached on a case-by-case basis, considering the individual's needs and preferences.

Individualized care plans, developed in collaboration with healthcare providers specializing in endocrinology, genetics, and urology, are essential for optimizing the health and well-being of individuals with PAIS.

Living with PAIS may present challenges, but with comprehensive medical care, support, and understanding, individuals can lead fulfilling lives. It's crucial for healthcare providers to offer empathetic and holistic care, addressing both the physical and emotional aspects of the condition.