46,XX sex reversal.
In humans, sexual differentiation is directed by SRY, a master regulatory gene located at the Y chromosome. This gene initiates the male pathway or represses the female pathway by regulating the transcription of downstream genes; however, the precise mechanisms by which SRY acts are largely unknown. Moreover, several genes have recently been implicated in the development of the bipotential gonad even before SRY is expressed. In some individuals, the normal process of sexual differentiation is altered and a sex reversal disorder is observed. These subjects present the chromosomes of one sex but the physical attributes of the other. Over the past years, considerable progress has been achieved in the molecular characterization of these disorders by using a combination of strategies including cell biology, animal models, and by studying patients with these pathologic entities.
Zenteno-Ruiz
J C
JC
Department of Genetics, Hospital General de Mexico-Facultad de Medicina, Universidad Nacional Autónoma de México, Mexico City, Mexico.
Kofman-Alfaro
S
S
Méndez
J P
JP
D000820:Animal Diseases / Q000196:embryology / Q000235:genetics; D000818:Animals; D004268:DNA-Binding Proteins / Q000502:physiology; D012734:Disorders of Sex Development / Q000235:genetics / Q000473:pathology; D005260:Female; D024282:Genes, sry; D005838:Genotype; D023961:Gonadal Dysgenesis, 46,XX / Q000196:embryology / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology / Q000628:therapy / Q000662:veterinary; D006066:Gonads / Q000196:embryology; D006609:High Mobility Group Proteins / Q000235:genetics / Q000502:physiology; D006801:Humans; D007621:Karyotyping; D051379:Mice; D018345:Mice, Knockout; D009030:Mosaicism; D009154:Mutation; D009687:Nuclear Proteins; D010641:Phenotype; D055758:SOX9 Transcription Factor; D019849:Sex Determination Processes; D012733:Sex Differentiation / Q000235:genetics / Q000502:physiology; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors / Q000235:genetics / Q000502:physiology; D014178:Translocation, Genetic / Q000235:genetics; D014714:Vertebrates / Q000502:physiology; D014960:X Chromosome / Q000648:ultrastructure; D014998:Y Chromosome / Q000235:genetics / Q000648:ultrastructure
D004268:DNA-Binding Proteins; D006609:High Mobility Group Proteins; D009687:Nuclear Proteins; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; C527933:Sox9 protein, mouse; C497746:Sry protein, mouse; D014157:Transcription Factors