PAIS

Partial Androgen Insensitivity Syndrome (PAIS) is a genetic condition that affects an individual's response to androgens, which are the hormones responsible for male sex characteristics. PAIS is part of a spectrum of conditions known as Androgen Insensitivity Syndrome (AIS), which ranges from mild forms, where individuals have mostly male physical characteristics (mild AIS), to complete forms, where individuals have female physical characteristics despite having a male genetic makeup (complete AIS). PAIS falls between these two extremes, leading to a wide variety of physical characteristics.

Causes

PAIS is caused by mutations in the AR gene, which provides instructions for making a protein called the androgen receptor. This protein allows the body to respond to androgens. Mutations in the AR gene reduce the ability of the androgen receptor to bind to androgens, leading to a partial insensitivity to these hormones.

Symptoms

The symptoms of PAIS can vary significantly among affected individuals. Common characteristics include ambiguous genitalia, which may not be clearly male or female, undescended testes, a partially closed vaginal opening, and a reduced ability to grow facial and body hair. Individuals with PAIS may be raised as males or females depending on the degree of genital ambiguity and the cultural context.

Diagnosis

Diagnosis of PAIS typically involves a combination of physical examination, hormone testing, genetic testing to identify mutations in the AR gene, and, in some cases, imaging studies to evaluate internal reproductive organs. The process can be complex, as the condition encompasses a wide range of physical manifestations.

Treatment

Treatment for PAIS is tailored to the individual and may include hormone therapy to support the development of secondary sexual characteristics, surgical interventions to modify the genitalia, and psychological support to address issues of gender identity and emotional well-being. Decisions about treatment are often made in collaboration with a multidisciplinary team of healthcare providers, including endocrinologists, surgeons, and mental health professionals.

Social and Psychological Aspects

Individuals with PAIS may face social and psychological challenges related to their condition. Issues of gender identity, body image, and social acceptance can be significant concerns. Support from family, friends, and support groups, as well as counseling, can be crucial in helping individuals navigate these challenges.

See Also

• Androgen Insensitivity Syndrome (AIS)
• Intersex
• Gender Dysphoria
• Hormone Replacement Therapy (HRT)