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dysgenéza gonadálna, 46,XX
Č. záznamu d023961 Dátum 06.06.2025 Typ M - MESH Tematický termín dysgenéza gonadálna, 46,XX Iný termín Slovenčina (Pseudonym) dysgenéza gonád, karyotyp 46,XX
Slovenčina (Pseudonym) dysgenéza gonád, 46,XX
Slovenčina (Pseudonym) dysgenéza gonadálna, karyotyp 46,XX
Slovenčina (Pseudonym) dysgenéza gonadálna, XX typ
Slovenčina (Pseudonym) gonadálna dysgenéza typu 46,XX, čistá forma
Slovenčina (Pseudonym) dysgenéza gonád typu 46,XX, čistá forma
MDT C12.050.351.875.253.064.249C12.050.351.875.253.309.193C12.200.706.316.064.249C12.200.706.316.309.193C12.800.316.064.249C12.800.316.309.193C16.131.939.316.064.249C16.131.939.316.309.193C19.391.119.064.249C19.391.119.309.193 Poznámka 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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