Reifenstein syndrome Health Article

Definition

Reifenstein syndrome is one of a group of diseases in which the body is unable to respond appropriately to the male sex hormones (androgens), which include testosterone.

Alternative Names

Partial androgen insensitivity syndrome; Incomplete male pseudohermaphroditism

Causes, incidence, and risk factors

As a male baby grows in the womb, male hormones (androgens) are made. This leads to the development of male sex organs.

In this condition, there is a change in the gene that helps the body recognize and use male hormones properly. This leads to problems with the development of the male sex organs. At birth, the baby may have ambiguous genitals, which leads to confusion over the baby's sex.

The syndrome is passed down through families (inherited). Women are not affected but may carry the gene. Males who inherit the gene from their mothers will have the condition. There is a 50% chance that a male child of a mother with the gene will be affected. Every female child has a 50% chance of carrying the gene. Family history is important in determining risk factors.

The syndrome is estimated to affect 1 in 99,000 people.

Symptoms

• Abnormal male genitals
  • Hypospadias
  • Small penis
  • Small scrotum, with a line down the middle (bifid) or incompletely closed
  • Undescended testicles
• Breast development in males at time of puberty
• Decreased body hair and beard, but normal pubic and armpit hair
• Sexual dysfunction in males and infertility

Signs and tests

The doctor will perform a physical exam. The male may have:

• Partially developed female sex organs
• Small or absent vas deferens (the tubes through which sperm exit the testes)

Tests may include:

• Blood tests
• Genetic tests
• Sperm count
• Testicular biopsy

Treatment

Treatment with testosterone may improve the chance that a boy will be able to have children when he grows up.

Support Groups

Androgen Insensitivity Syndrome Support Group (AISSG) -- www.medhelp.org/www/ais/

Intersex Society of North America (ISNA) -- www.isna.org