Summary
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.
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References
Andersen SR, Geertinger P, Larsen HW, Mikkelsen M, Parving A, Vestermark S, Warburg M (1978) Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome 11. Ophthalmologica 176:171–177
Chabab A, Sultan C (1985) Increased peripheral aromatase activity in prepubertal children with partial androgen intensitivity syndrome. Horm Res 22:83–88
Drash A, Sherman F, Harimann W, Blizzard RM (1970) A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease. J Pediatr 76:585–593
Habib R, Loirat C, Gubler MC, Niaudet P, Bensman A, Lévy M, Broyer M (1985) The nephropathy associated with male pseudohermaphroditism and Wilms' tumor (Drash syndrome): a distinctive glomerular lesion—report of 10 cases. Clin Nephrol 24:269–278
Malpuech G, Sultan C, Bertheas MF, Loire C, Renaud H, Francannet C, Vanlieferingen P (1986) Male pseudohermaphroditism. Partial androgen receptors deficit. 11p13 deletion. Indication of gene localization. Am J Med Genet 24:679–684
McKusick VA (1983) Mendelian inheritance in man. Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes, 6th edn. Johns Hopkins University Press, Baltimore
Scatchard G (1949) The attractions of proteins for small molecules and ions. Ann NY Acad Sci 51:660–672
Sultan C, Migeon BR, Rithwell SW, Maes M, Migeon CH (1980) Androgen receptors and metabolism in cultured human fetal fibroblasts. Pediatr Res 13:67–69
Sultan C, Picard JY, Josso N, Migeon CJ (1983) Incomplete androgen insensitivity syndrome. Partially masculinized genitalia in two patients with absence of androgen receptor in cultured fibroblasts. Clin Endocrinol 19:565–574
Turleau C, de Grouchy J, Tournade MF, Gagnadoux MF, Junien C (1984) Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature. Clin Genet 26:356–362
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Turleau, C., Niaudet, P., Sultan, C. et al. Partial androgen receptor deficiency and mixed gonadal dysgenesis in Drash syndrome. Hum Genet 75, 81–83 (1987). https://doi.org/10.1007/BF00273847
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DOI: https://doi.org/10.1007/BF00273847