Partial androgen receptor deficiency and mixed gonadal dysgenesis in Drash syndrome.
Drash syndrome associates a nephropathy characterized by a diffuse mesangial sclerosis of early onset, Wilms tumor, and male pseudohermaphroditism (MPH). A patient with Drash syndrome is reported with the following: karyotype 46,XY, external genitalia near normal female, mixed gonadal dysgenesis, severe androgen receptor deficiency demonstrated for the first time in this syndrome. The possibility of a common genetic denominator with the del 11p13 WAGR complex is suggested. MPH/nephroblastoma association is common. Androgen receptor deficiency has been observed in one case of each syndrome, respectively.
D012734:Disorders of Sex Development / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D007223:Infant; D007621:Karyotyping; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D008297:Male; D011944:Receptors, Androgen / Q000032:analysis*; D013577:Syndrome; D009396:Wilms Tumor / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology
D011944:Receptors, Androgen