AIS has which inheritance pattern?

AIS has which inheritance pattern?

• A. Autosomal recessive
• B. X-linked recessive
• C. Mitochondrial inheritance
• D. Autosomal dominant

Answer: (D)

AIS is inherited in an X-linked recessive fashion because the androgen receptor gene that when mutated causes AIS sits on the X chromosome. In individuals with XY chromosomes, a single mutated copy disrupts androgen signaling, leading to insensitivity to androgens. Females, with two X chromosomes, are usually carriers because one normal copy can often compensate. Affected females are rare and typically require two mutated copies or unusual X-inactivation patterns. This explains why AIS largely affects males and why father-to-son transmission isn’t seen. An autosomal dominant pattern would imply roughly equal impact across sexes and different inheritance from fathers to sons, which doesn’t fit AIS.

AIS is inherited in an X-linked recessive fashion because the androgen receptor gene that when mutated causes AIS sits on the X chromosome. In individuals with XY chromosomes, a single mutated copy disrupts androgen signaling, leading to insensitivity to androgens. Females, with two X chromosomes, are usually carriers because one normal copy can often compensate. Affected females are rare and typically require two mutated copies or unusual X-inactivation patterns. This explains why AIS largely affects males and why father-to-son transmission isn’t seen. An autosomal dominant pattern would imply roughly equal impact across sexes and different inheritance from fathers to sons, which doesn’t fit AIS.