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DeCS
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Descriptor English:
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Gonadal Dysgenesis, 46,XX
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Descriptor Spanish:
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Disgenesia Gonadal 46 XX
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Descriptor Portuguese:
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Disgenesia Gonadal 46 XX
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Synonyms English:
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Gonadal Dysgenesis, 46, XX
Gonadal Dysgenesis, XX Type
Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46,XX
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Tree Number:
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C12.706.316.064.249
C12.706.316.309.193
C13.351.875.253.064.249
C13.351.875.253.309.193
C16.131.939.316.064.249
C16.131.939.316.309.193
C19.391.119.064.249
C19.391.119.309.193
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Definition English:
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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. |
History Note English:
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2002
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Allowable Qualifiers English:
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Record Number:
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36016
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Unique Identifier:
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D023961
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Occurrence in VHL:
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Similar:
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DeCS
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