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Alternative Names Return to topPartial androgen insensitivity syndrome; Incomplete male pseudohermaphroditism
Definition Return to top
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.
Causes Return to top
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 Return to top
Exams and Tests Return to top
The doctor will perform a physical exam. The male may have:
Tests may include:
Treatment Return to top
Treatment with testosterone may improve the chance that a boy will be able to have children when he grows up.
Support Groups Return to top
Androgen Insensitivity Syndrome Support Group (AISSG) -- www.medhelp.org/www/ais/
Intersex Society of North America (ISNA) -- www.isna.org
Outlook (Prognosis) Return to top
Androgens are most important during early development in the womb. Those with Reifenstein syndrome can have a normal lifespan and be totally healthy, but they may be infertile and have psychological problems related to gender identity.
In the most severe cases, boys with outer female genitals or an extremely small penis may have psychological and emotional problems.
Genital surgery should be postponed until the patient is old enough to make the decision.
Possible Complications Return to top
When to Contact a Medical Professional Return to top
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 always recommended if this disease is suspected.
Prevention Return to top
Prenatal testing is available. People with a family history of these conditions should consider genetic counseling. Testosterone treatment that is started early may prevent some infertility.Update Date: 10/15/2008 Updated by: Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG), Charter Member of the ABGC, University of Tennessee, Memphis, TN. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.