Počet záznamov: 1
dysgenéza gonadálna, 46,XX
SYS d023961 LBL 00000cx--j2200000---45-- 005 20240122221853.8 100 $a 20010803asloy0103----ba0 152 $b mesh 250 $a dysgenéza gonadálna, 46,XX $x BL $x CF $x CI $x CL $x CO $x DG $x DH $x DI $x DT $x EC $x EH $x EM $x EN $x EP $x ET $x GE $x HI $x IM $x ME $x MI $x MO $x NU $x PA $x PC $x PP $x PS $x PX $x RH $x RT $x SU $x TH $x UR $x VE $x VI $8 slo 300 1-
$a 2002 $8 eng 300 1-
$a Gonadal Dysgenesis (1980-2001) $8 eng 300 1-
$a Sex Differentiation Disorders (1966-1979) $8 eng 330 1-
$a 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. $8 eng 450 $a dysgenéza gonád, karyotyp 46,XX $5 e $8 slo 450 $a dysgenéza gonád, 46,XX $5 e $8 slo 450 $a dysgenéza gonadálna, karyotyp 46,XX $5 e $8 slo 450 $a dysgenéza gonadálna, XX typ $5 e $8 slo 450 $a gonadálna dysgenéza typu 46,XX, čistá forma $5 e $8 slo 450 $a dysgenéza gonád typu 46,XX, čistá forma $5 e $8 slo 686 $a C12.050.351.875.253.064.249 686 $a C12.050.351.875.253.309.193 686 $a C12.200.706.316.064.249 686 $a C12.200.706.316.309.193 686 $a C12.800.316.064.249 686 $a C12.800.316.309.193 686 $a C16.131.939.316.064.249 686 $a C16.131.939.316.309.193 686 $a C19.391.119.064.249 686 $a C19.391.119.309.193 750 $a Gonadal Dysgenesis, 46,XX $8 eng 801 -0
$a US $b DNLM $c 20010803 801 -2
$a SK $b BA006 $c 20020506 801 -2
$a SK $b BA006 $c 20230214 801 -2
$a SK $b BA006 $c 20240122 980 $x M
Počet záznamov: 1