A WNT4 Mutation Associated with Müllerian-Duct Regression and Virilization in a 46,XX Woman

WNT4, a secreted protein that suppresses male sexual differentiation, is thought to suppress the synthesis of gonadal androgen in females. These investigators describe a woman with no müllerian-derived structures, unilateral renal agenesis, and clinical signs of androgen excess who had a loss-of-fun...

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Published inThe New England journal of medicine Vol. 351; no. 8; pp. 792 - 798
Main Authors Biason-Lauber, Anna, Konrad, Daniel, Navratil, Francesca, Schoenle, Eugen J
Format Journal Article
LanguageEnglish
Published Boston, MA Massachusetts Medical Society 19.08.2004
Subjects
Adolescent
Amenorrhea
Androgens
Biological and medical sciences
DNA Mutational Analysis
Female
General aspects
Genetics
Genotype & phenotype
Humans
Karyotyping
Medical sciences
Mullerian Ducts - abnormalities
Mutation
Proto-Oncogene Proteins - genetics
Reproductive system
Sexual disorders
Syndrome
Urogenital Abnormalities - genetics
Virilism - genetics
Wnt Proteins
Wnt4 Protein
Human
Medicine
Association
Mullerian duct
Regression
Female
Mutation
Woman
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Summary:WNT4, a secreted protein that suppresses male sexual differentiation, is thought to suppress the synthesis of gonadal androgen in females. These investigators describe a woman with no müllerian-derived structures, unilateral renal agenesis, and clinical signs of androgen excess who had a loss-of-function mutation in the WNT4 gene. By regulating the formation of müllerian ducts, WNT4 appears to be crucial for the development of the female phenotype. The differentiation of a testis or an ovary from the bipotential gonad is a complex developmental process involving various genes and hormones. 1 Additional elements of the reproductive tract develop from an indeterminate stage through the differentiation of wolffian ducts (male reproductive tract anlage) and müllerian ducts (female reproductive tract anlage). Although factors involved in male sexual differentiation have been well studied, the pathways that regulate female sexual differentiation remain incompletely defined. To date, no genes have been shown to play a role in ovarian development equivalent to that played by the SRY or SOX9 gene in testicular development. In mice, . . .
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ISSN:0028-4793
1533-4406
DOI:10.1056/NEJMoa040533