Reifenstein syndrome
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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.
Review Date: 11/1/2010
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
Alternative Names
Partial androgen insensitivity syndrome; Incomplete male pseudohermaphroditism
Symptoms
Signs and tests
The doctor will perform a physical exam. The male may have:
Tests may include:
Review Date: 11/1/2010
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
Alternative Names
Partial androgen insensitivity syndrome; Incomplete male pseudohermaphroditism
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
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, 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.
Complications
- Breast development in men
- Infertility and failure to develop normal male genitals
- Psychological problems, such as depression
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 genitals. Genetic testing and counseling are always recommended if this disease is suspected.
Review Date: 11/1/2010
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
Alternative Names
Partial androgen insensitivity syndrome; Incomplete male pseudohermaphroditism
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: 11/1/2010
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
Review Date: 11/1/2010
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.