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Reifenstein syndrome

• Overview
• Symptoms
• Treatment
• Prevention

Alternative Names:

Partial androgen insensitivity syndrome; Incomplete male pseudohermaphroditism

Treatment:

Early and continuous testosterone treatment may improve the chance that a boy will grow up to be fertile.

Support Groups:

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

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

Expectations (prognosis):

Androgens are most important during early development in the womb. Those with Reifenstein syndrome can have a normal lifespan and be totally healthy, with the exception of infertility and possible psychological problems related to gender identity.

In the most severe cases, psychological and emotional problems may occur in boys with outer female genitalia or an extremely small penis. In some cases, parents have tried to raise people with Reifenstein syndrome as girls. This is rarely effective.

Genital surgery should be postponed until the patient can make an informed choice.

Complications:

• Infertility and failure to develop normal male gonads/genitals.
• Breast development in men can be a cosmetic concern.
• Psychological problems like depression may occur.

Calling your health care provider:

Call your health care provider if you, your son, or a male family member has infertility or incomplete development of male external organs, despite high blood testosterone. Genetic testing and counseling is available if there is a strong suspicion that this disease is present.

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

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