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.
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.
The doctor will perform a physical exam. The male may have:
Tests may include:
Treatment with testosterone may improve the chance that a boy will be able to have children when he grows up.
Androgen Insensitivity Syndrome Support Group (AISSG) -- www.aissg.org
Intersex Society of North America (ISNA) -- www.isna.org
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.
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.
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.
Partial androgen insensitivity syndrome; Incomplete male pseudohermaphroditism
Updated 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.
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 an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability. 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 policy, editorial process and privacy policy. A.D.A.M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).
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 1997-2012, A.D.A.M., Inc. Duplication for commercial use must be authorized in writing by ADAM Health Solutions.