WNT4 Deficiency

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report WNT4 Deficiency is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Biason-Lauber syndrome
  • Mullerian aplasia and hyperandrogenism
  • WNT4 Mullerian aplasia
  • WNT4 syndrome

Disorder Subdivisions

  • None

General Discussion

WNT4 deficiency is a rare genetic disorder that affects females. It is characterized by the absence or underdevelopment of the uterus and sometimes absence or underdevelopment of the vagina. Affected females also experience abnormally high levels of androgens (hyperandrogenism), which are male sex hormones. Androgens promote and control the development of male sex characteristics and, consequently, affected females may have certain symptoms such as a male pattern of hair growth (hirsutism). Females with WNT4 deficiency develop normal secondary sexual characteristics during puberty (e.g., breast development and pubic hair), but do not have a menstrual cycle (primary amenorrhea). The failure to begin the menstrual cycle may be the initial clinical sign of WNT4 deficiency. Because of the nature of the disorder, WNT4 deficiency can cause significant psychological challenges and counseling is recommended. WNT4 deficiency is caused by mutations of the WNT4 gene.

Supporting Organizations

AIS-DSD Support Group

P.O. Box 2148
Duncan, OK 73534-2148
USA
Email: info@aisdsd.org
Website: http://www.aisdsd.org

Accord Alliance

531 Route 22 East #244
Whitehouse Station, NJ 8889
USA
Tel: (908)349-0534
Fax: (801)349-0534
Email: janet.green@accordalliance.org
Website: http://www.accordalliance.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

National Kidney Foundation

30 East 33rd Street
New York, NY 10016
Tel: (212)889-2210
Fax: (212)689-9261
Tel: (800)622-9010
Email: info@kidney.org
Website: http://www.kidney.org

RESOLVE: National Infertility Association

1760 Old Meadow Rd
Suite 500
McLean, VA 22102
Tel: (703)556-7172
Fax: (703)506-3266
Email: info@resolve.org
Website: http://www.resolve.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  12/17/1969
Copyright  2012 National Organization for Rare Disorders, Inc.