• PMID: 3026952
• Gene Name: AR
• Condition: Mixed gonadal dysgenesis
• Association: Partial androgen receptor deficiency and mixed gonadal dysgenesis in Drash syndrome
• Population size: 1
• Population details: 1 46,XY, external genitalia near normal female, mixed gonadal dysgenesis, severe androgen receptor deficiency
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Mixed gonadal dysgenesis

Partial androgen receptor deficiency and mixed gonadal dysgenesis in Drash syndrome

Turleau C, Niaudet P, Sultan C, Rault G, Mahfoud A, Nihoul-Fekete C, Iris L, de Grouchy J.

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. FAU - Turleau, C AU - Turleau C FAU - Niaudet, P AU - Niaudet P FAU - Sultan, C AU - Sultan C FAU - Rault, G AU - Rault G FAU - Mahfoud, A AU - Mahfoud A FAU - Nihoul-Fekete, C AU - Nihoul-Fekete C FAU - Iris, L AU - Iris L