Question

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

a) Androgen insensitivity syndrome (AIS)
b) Congenital adrenal hyperplasia (CAH)
c) Klinefelter syndrome
d) Turner syndrome

Answer 1

The patient described in the question is most likely experiencing Congenital Adrenal Hyperplasia (CAH).

Step-by-step explanation:

The patient described in the question has external virilization (appearance of male secondary sex characteristics) and undetectable serum estrogen levels. This is consistent with Congenital Adrenal Hyperplasia (CAH), which is caused by an enzyme deficiency in the adrenal gland that leads to excess production of androgens (male hormones) and lack of estrogen. Patients with CAH can have normal internal genitalia but show signs of masculinization externally.

In contrast, Androgen Insensitivity Syndrome (AIS) is characterized by normal internal genitalia but an inability of the body's cells to respond to androgens. This leads to the development of female secondary sex characteristics in individuals with XY chromosomes. Klinefelter syndrome (XXY genotype) and Turner syndrome (XO genotype) have different manifestations, including sterility and developmental delays or impairments. These conditions do not align with the symptoms described in the question.