Coronavirus (COVID-19) updates, visitor restrictions and resources →

Reifenstein syndrome

  • Definition
    • Reifenstein syndrome is a disease that occurs in boys when their body cannot respond the right way to the male sex hormones (androgens). Testosterone is a male sex hormone.

      This disorder is a type of androgen insufficiency syndrome.

  • Alternative Names
    • Partial androgen insensitivity syndrome; Incomplete male pseudohermaphroditism

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

      In Reifenstein syndrome, 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
    • Symptoms of Reifenstein syndrome are:

      • Abnormal male genitals, such as the urethra being on the underside of the penis, small penis, small scrotum (with a line down the middle or incompletely closed), or 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
  • Exams and Tests
    • The health care provider 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:

  • 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) --

      Intersex Society of North America (ISNA) --

  • Outlook (Prognosis)
    • Androgens are most important during early development in the womb. People with Reifenstein syndrome can have a normal lifespan and be totally healthy, but they may have difficulty conceiving a child. In the most severe cases, boys with outer female genitals or an extremely small penis may have psychological or emotional problems.

      In some cases, the genital surgery is postponed until the boy is old enough to make the decision, but this should be discussed with your child's health care provider.

  • Possible Complications
    • These problems may occur:

      • Breast development in men
      • Infertility and failure to develop normal male genitals
      • Psychological problems, such as depression
  • When to Contact a Medical Professional
    • Call your health care provider if you, your son, or a male family member has infertility or incomplete development of male genitals. Genetic testing and counseling are recommended if this disease is suspected.

  • Prevention
    • Prenatal testing is available. People with a family history of this condition should consider genetic counseling. Testosterone treatment that is started early may prevent some infertility.

  • References
    • Donohoue PA. Disorders of sex development. In: Kliegman RM, Stanton BF, St. Geme J, Schor N, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 582.