What is Complete Androgen Insensitivity Syndrome (CAIS)?
Complete Androgen Insensitivity Syndrome (CAIS) is a rare genetic condition where an individual who is genetically male (46, XY) has a female phenotype due to the body's inability to respond to androgens. This condition occurs due to mutations in the androgen receptor (AR) gene, which is crucial for the normal action of male hormones.
Absence of menstruation (amenorrhea)
Lack of pubic and axillary hair
Presence of undescended testes (gonads)
Absent or rudimentary Müllerian structures (uterus and upper part of the vagina)
How is CAIS Diagnosed?
Diagnosis of CAIS often involves a combination of clinical evaluation, hormonal assays, and genetic testing. Key diagnostic steps include:
Physical examination to assess phenotypic characteristics
Hormone levels measurement, particularly low or absent testosterone
Ultrasound or MRI to evaluate internal genital structures
Karyotyping to determine chromosomal sex (46, XY)
Genetic testing to identify mutations in the androgen receptor gene
Surgical removal of undescended testes to prevent
malignancy Hormone replacement therapy (HRT) with estrogen to promote secondary sexual characteristics and bone health
Psychological support and counseling to address gender identity and social concerns
Vaginal dilation or surgery to assist with sexual function, if necessary
Monitoring for potential complications like gonadal tumors
Regular bone density assessments to prevent osteoporosis
Fertility counseling, as individuals with CAIS are infertile
Ongoing psychological support to cope with social and identity issues
What is the Prognosis for Individuals with CAIS?
The prognosis for individuals with CAIS is generally good, especially with early diagnosis and appropriate management. Most individuals with CAIS have a female gender identity and can lead normal, healthy lives. Lifelong medical follow-up is important to address any arising health issues and ensure overall well-being.
