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Gonadal Dysgenesis, 46,XX

"Gonadal Dysgenesis, 46,XX" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

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The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.


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This graph shows the total number of publications written about "Gonadal Dysgenesis, 46,XX" by people in Harvard Catalyst Profiles by year, and whether "Gonadal Dysgenesis, 46,XX" was a major or minor topic of these publication.
Bar chart showing 4 publications over 3 distinct years, with a maximum of 2 publications in 2013
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.