Reifenstein syndrome is an genetic androgen insensitivity syndrome that causes a genetically male foetus to improperly develop male sex organs. This may result in ambiguous genitalia and the baby’s sex being indeterminate at birth. It is thought to affect one in every 99,000 live births. It only affects males.

Reifenstein syndrome is familial, so it runs in families. Women are not affected, but they may carry the gene and pass it on to their children – the chance is 50 per cent for girl and boy children born to a mother with the gene. It can be difficult for men with the gene to pass it on, since they are often infertile.

Symptoms

  • Abnormally developed male genitals – smaller in size of penis and scrotum, undescended testes
  • Epispadias or hypospadias (the urethra on the underside or upper side of the penis)
  • Breast development at puberty
  • Decreased body hair and beard, but normal armpit and pubic hair
  • Sexual dysfunction and infertility
  • Partially developed female sex organs
  • Small or absent vas deferens
  • Infertility
  • Psychological problems can manifest

 

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