Wentworth-Douglass Hospital
(603) 742-5252
Decrease (-) Restore Default Increase (+) font size
Physicians
Site Search

Male reproductive system
Male reproductive system


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.



Symptoms:

Signs and tests:

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

  • Partially developed female sex organs
  • Small or absent vas deferens (the tubes through which sperm exit the testes)

Tests may include:



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.



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: 10/15/2008
Reviewed 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.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional 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. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
adam.com


Find What You Need

Events
Careers
Foundation
About Us
Contact
Directions
News
Social Media Agreement
Joint Notice
Web Privacy Policy
WDH Staff Portal

Centers & Services

Cancer Center
Cardiovascular Care
Joint Replacement
Women & Children's
Physician Offices
Other Services

Conditions & Treatments

Health Information
Ebola Information

Support Services

Support Groups
Care-Van
Dental Center
Social Work
Food & Nutrition
Integrative Wellness
Spiritual Care
Concerns & Grievances
Homecare and Hospice

For Patients

Pay Your Bill Online
Pricing Estimates
Financial Assistance
Interpreter Services
Surgery Preparation
Medical Record Request
Advance Directives
Clinical Research & Trials

For Healthcare Professionals

Work and Life
Financial Well-Being
Career and Growth

The Wentworth-Douglass Health System includes:

 

Address

Wentworth-Douglass Hospital
789 Central Avenue, Dover, NH 03820
Phone: (603) 742-5252
Toll free: 1 (877) 201-7100