Reifenstein syndrome
Alternative Names
Partial androgen insensitivity syndrome; Incomplete male pseudohermaphroditism
Symptoms
Symptoms include:
- Sexual dysfunction in males and infertility
- Abnormal male genitals
- Undescended testes
- Small scrotum, with a line down the middle (bifid) or incompletely closed
- small penis
- Hypospadias (the urethra exits the body on the side of the penis, not the tip)
- Breast development in males at time of puberty
- Decreased body hair and beard, but normal pubic and armpit hair
Exams and Tests
The doctor will perform a physical exam. The male may have:
- Decreased or absent vas deferens (the tubes through which sperm exit the testes)
- Partial development of female sex organs
Tests may include:
- Blood tests to check for high levels of testosterone and luteinizing hormone
- Sperm count
- Testicular biopsy
- Genetic tests to look for defects in the androgen receptor gene