IllnessAndrogen insensitivity syndrome

NGS +

Sanger

Androgen insensitivity syndrome (AIS) is a disorder that affects sexual development before birth and during puberty based on a 46XY karyotype. Due to the inability to respond to androgens, these patients usually have female external sex characteristics or signs of both male and female sex development. Complete AIS results in the external sex characteristics of females without a uterus, but with testes and sparse or absent pubic hair as well as in the arm pits. Affected individuals are usually raised as females and have female gender identity. Mal-descended testicular tissue may later malignant degenerate if not surgically removed. Mild forms of AIS occur when the body tissue only partially responds to androgens. People with partial AIS (Reifenstein syndrome) may have typically female genitalia or both male and female features or be typically male. They may grow up as males or females and have male or female gender identity. Individuals with mild AIS are born with male sex characteristics, are often infertile and tend to have breast enlargement during puberty. AIS is caused by mutations in the AR gene, which codes for the androgen receptor. AIS is inherited in an X-linked recessive manner. About two-thirds of all AIS cases are maternally inherited via an altered copy of the AR gene. The remaining cases are due to de novo mutations. DNA diagnostic yields reach up to 95% in complete AIS cases and <50% in individuals with partial AIS. Therefore, a negative molecular genetic result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1429/

• Alias: (Complete) Androgen resistance syndrome (AR)
• Alias: Androgen insensitivity, AIS (AR)
• Alias: Androgen insensitivity, partial [Reifenstein syndrome] (AR)
• Alias: Androgen insensitivity, partial, with/without breast cancer (AR)
• Alias: Androgen-Resistenz [Goldberg-Maxwell, Morris] Syndrom (AR)
• Allelic: Hypospadias 1, XL (AR)
• Allelic: Prostate cancer, susceptibility to (AR)
• Allelic: Spinal + bulbar muscular atrophy of Kennedy (AR CAG)