Question

Patient with normal internal genitalia, external virilization, and undetectable serum estrogen levels

Answer 1

Androgen Insensitivity Disorder (AID) is a genetic disorder where individuals with XY chromosomes have male internal sex organs but appear phenotypically female. They have undetectable serum estrogen levels and may experience undescended testes. These individuals are typically raised as females and have a female gender identity.

Step-by-step explanation:

This question is related to a condition called Androgen Insensitivity Disorder (AID). AID is a genetic disorder where individuals with XY chromosomes have male internal sex organs (testes), but their external sex characteristics appear phenotypically female. They have undetectable serum estrogen levels and may experience undescended testes. These individuals are typically raised as females and have a female gender identity.

Androgen Insensitivity Disorder is caused by a mutation in the Androgen Receptor (AR) gene located on the X chromosome, leading to an insensitivity of target cells to androgens like testosterone. As a result, the internal testes cannot descend during fetal development, causing atypical development of internal and external genitalia.

Examples:

1. A person with AID may have a vagina, but internally have undescended testes instead of ovaries and a uterus.
2. They may have breast development during puberty due to the aromatization of testosterone into estrogen by peripheral tissues.
3. Since they have undetectable serum estrogen levels, they are infertile and do not menstruate.