Reifenstein syndrome

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Male reproductive system

Partial androgen insensitivity syndrome; Incomplete male pseudohermaphroditism

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

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

Review Date: 12/11/2006
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.