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Gonadal Dysgenesis, 46,XX MeSH Descriptor Data 2025


MeSH Heading
Gonadal Dysgenesis, 46,XX
Tree Number(s)
C12.050.351.875.253.064.249
C12.050.351.875.253.309.193
C12.200.706.316.064.249
C12.200.706.316.309.193
C12.800.316.064.249
C12.800.316.309.193
C16.131.939.316.064.249
C16.131.939.316.309.193
C19.391.119.064.249
C19.391.119.309.193
Unique ID
D023961
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D023961
Scope Note
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.
Entry Term(s)
Gonadal Dysgenesis, 46, XX
Gonadal Dysgenesis, XX Type
Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46,XX
Previous Indexing
Gonadal Dysgenesis (1980-2001)
Sex Differentiation Disorders (1966-1979)
Public MeSH Note
2002
History Note
2002
Date Established
2002/01/01
Date of Entry
2001/08/03
Revision Date
2021/06/30
Gonadal Dysgenesis, 46,XX Preferred
Pure Gonadal Dysgenesis, 46, XX Narrower
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