Final answer:
a) Ambiguous genitalia at birth, with masculinization at puberty. Patients with 5 alpha-reductase deficiency present with ambiguous genitalia at birth, but masculinize at puberty due to increased male hormone production.
Step-by-step explanation:
Patients with 5 alpha-reductase deficiency present with ambiguous genitalia at birth, with masculinization at puberty. They would appear phenotypically female at birth, but as they go through puberty and their bodies produce more male hormones, their secondary sexual characteristics would become masculine.
This condition is caused by a deficiency in the enzyme 5 alpha-reductase, which is responsible for converting testosterone into dihydrotestosterone (DHT), a more potent form of testosterone. Without enough DHT, the external genitalia do not fully masculinize at birth, leading to ambiguous genitalia. However, as the body produces more testosterone during puberty, the genitals begin to masculinize.
It's important to note that the internal reproductive organs in individuals with 5 alpha-reductase deficiency are typically male, with undescended testes located in the pelvis or abdomen. These individuals are typically raised as females and have a female gender identity.