National Organization for Rare Disorders, Inc.
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.
- Biason-Lauber syndrome
- Mullerian aplasia and hyperandrogenism
- WNT4 syndrome
- 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.
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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".
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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
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Last Updated: 6/11/2012
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