Which of the following are correct regarding androgen insensitivity syndrome?
1. Inherited as X-linked recessive disorder
2. Karyotype is 46 XXY
3. It is also called testicular feminization
4. Confirmation of diagnosis by gonadal biopsy
Select the answer using the code given below.

Question

Which of the following are correct regarding androgen insensitivity syndrome?

1. Inherited as X-linked recessive disorder

2. Karyotype is 46 XXY

3. It is also called testicular feminization

4. Confirmation of diagnosis by gonadal biopsy

Select the answer using the code given below.

Prepp Team · Accepted Answer

Androgen Insensitivity Syndrome (AIS) Analysis

This question asks to identify correct statements regarding Androgen Insensitivity Syndrome (AIS).

Statement 1: Inherited as X-linked recessive disorder
This statement is correct. AIS is caused by mutations in the Androgen Receptor (AR) gene, located on the X chromosome. This results in an X-linked recessive inheritance pattern.
Statement 2: Karyotype is 46 XXY
This statement is incorrect. Individuals with AIS typically have a male genotype and thus a karyotype of $46,XY$. A $46,XXY$ karyotype is characteristic of Klinefelter syndrome, not AIS.
Statement 3: It is also called testicular feminization
This statement is correct. Complete Androgen Insensitivity Syndrome (CAIS), a severe form of AIS, is widely known as Testicular Feminization Syndrome (TFS).
Statement 4: Confirmation of diagnosis by gonadal biopsy
This statement is correct. While genetic testing is crucial for diagnosis, a gonadal biopsy can confirm the presence of testes and is often performed for definitive diagnosis and assessment, particularly in cases involving ambiguous genitalia or when ruling out other conditions.