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DeCS
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Descriptor Inglés:
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Gonadal Dysgenesis, 46,XX
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Descriptor Español:
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disgenesia gonadal 46XX
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Descriptor Portugués:
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Disgenesia Gonadal 46 XX
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Sinónimos Inglés:
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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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Categoría:
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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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Definición Inglés:
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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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Nota Histórica Inglés:
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2002
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Calificadores Permitidos Inglés:
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Número del Registro:
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36016
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Identificador Único:
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D023961
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Ocurrencia en la BVS:
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Similar:
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DeCS
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