Health Encyclopedia

Reifenstein syndrome

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.

The syndrome is passed down through families (inherited) and causes underdevelopment of the male reproductive tract.

Alternative Names

Partial androgen insensitivity syndrome; Incomplete male pseudohermaphroditism

Causes, incidence, and risk factors

In this syndrome, a problem with a gene causes cells to be less responsive to male hormones called androgens. It is also called Partial Androgen Insensitivity Syndrome.

As a male baby grows in the womb, male hormones (androgens) are made. As a result, male sexual organs develop. However, sometimes there is a change in the gene that helps make a protein (receptor) that tells the body how to use androgen properly. If androgen cannot be processed normally because of a defect in this protein, problems with the development of the male sex organs occur. At birth, this may result in confusion over the sex of the baby due to ambiguous genitalia.

The disease is inherited in an X-linked recessive manner, which means that 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. Family history is important in determining risk factors.

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

Symptoms

Symptoms include:

Sexual dysfunction in males and infertility
Abnormal male genitals
- Undescended testes
- Small scrotum, with a line down the middle (bifid) or incompletely closed
- small penis
- Hypospadias (the urethra exits the body on the side of the penis, not the tip)
Breast development in males at time of puberty
Decreased body hair and beard, but normal pubic and armpit hair

Signs and tests

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

Decreased or absent vas deferens (the tubes through which sperm exit the testes)
Partial development of female sex organs

Tests may include:

Blood tests to check for high levels of testosterone and luteinizing hormone
Sperm count
Testicular biopsy
Genetic tests to look for defects in the androgen receptor gene

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. Management of these patients is very complex.

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.

Prevention

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.

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.

ADAM Quality A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial process. A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

The Agency for Health Care Administration (Agency) and this website do not claim the information on, or referred to by, this site is error free. This site may include links to websites of other government agencies or private groups. Our Agency and this website do not control such sites and are not responsible for their content. Reference to or links to any other group, product, service, or information does not mean our Agency or this website approves of that group, product, service, or information.

Additionally, while health information provided through this website may be a valuable resource for the public, it is not designed to offer medical advice. Talk with your doctor about medical care questions you may have.