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.
Mullerian aplasia and hyperandrogenism
WNT4 Mullerian aplasia
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.
National Kidney Foundation 30 East 33rd Street New York, NY 10016 Tel: (212)889-2210 Fax: (212)689-9261 Tel: (800)622-9010 Email: email@example.com Internet: 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: firstname.lastname@example.org Internet: http://www.resolve.org
AIS/DSD Support Group for Women and Families P.O. Box 2148 Duncan, OK 73534-2148 USA Email: email@example.com Internet: http://www.aissg.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 TDD: (888)205-3223 Internet: http://rarediseases.info.nih.gov/GARD/
Accord Alliance 531 Route 22 East #244 Whitehouse Station, NJ 08889 USA Tel: (908)349-0534 Fax: (801)349-0534 Email: firstname.lastname@example.org Internet: http://www.accordalliance.org
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Last Updated: 6/11/2012 Copyright 2012 National Organization for Rare Disorders, Inc.
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