Article
Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability.
The Journal of clinical endocrinology and metabolism - 1 Mar 2001
Boehmer A L, Brinkmann A O, Nijman R M, Verleun-Mooijman M C, de Ruiter P, Niermeijer M F, Drop S L
Abstract excerpt
Mutations in the androgen receptor (AR) gene result in a wide range of phenotypes of the androgen insensitivity syndrome (AIS). Inter- and intrafamilial differences in the phenotypic expression of identical AR mutations are known, suggesting modifying factors in establishing the phenotype. Two 46,XY siblings with partial AIS sharing the same AR gene mutation, R846H, but showing very different phenotypes are...
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