A 15-year-old individual with feminine physical traits consults a physician for delayed menarche. The physician conducts certain tests that reveal that the individual lacks a uterus and has undescended testes, despite having external female genitalia. What defect does this individual have?
A) XX male syndrome
B) triple X syndrome
C) 5 α-reductase deficiency
D) adrenogenital syndrome
E) androgen-insensitivity syndrome

Question

Quizplus · Accepted Answer

The individual described in the question has an androgen-insensitivity syndrome. This is a condition in which a genetic male (XY) develops externally as a female due to the inability of cells to respond to androgens (male hormones). As a result, the individual lacks a uterus, has undescended testes, and delayed menarche. This condition is caused by a mutation in the androgen receptor gene.

A 15-Year-Old Individual with Feminine Physical Traits Consults a Physician