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Reifenstein syndrome - Symptom

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

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