Article
Phenotypic diversity in siblings with partial androgen insensitivity syndrome.
Archives of disease in childhood - 1 Jun 1997
Evans B A, Hughes I A, Bevan C L, Patterson M N, Gregory J W
Abstract excerpt
The androgen insensitivity syndrome is a heterogeneous disorder with a wide spectrum of phenotypic abnormalities, ranging from complete female to ambiguous forms that more closely resemble males. The primary abnormality is a defective androgen receptor protein due to a mutation of the androgen re...
Topics
- Female
- Follow-Up Studies
- Gonadal Dysgenesis
- Humans
- Infant, Newborn
- Male
- Pedigree
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Receptors, Androgen