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WNT4 Deficiency

Abstract

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NORD is very grateful to Daniel Konrad, MD, PhD, Division of Diabetology and Endocrinology, University Children's Hospital, Zurich, Switzerland, for assistance in the preparation of this report.

Synonyms of WNT4 Deficiency

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

Disorder Subdivisions

No subdivisions found.

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.

Organizations related to WNT4 Deficiency

NORD offers an online community for this rare disease. RareConnect was created by EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders) to provide a safe space where individuals and families affected by rare diseases can connect with each other, share vital experiences, and find helpful information and resources. You can view these international, rare disease communities at www.rareconnect.org.

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