Article
Genetic counselling in complete androgen insensitivity syndrome: trinucleotide repeat polymorphisms, single-strand conformation polymorphism and direct detection of two novel mutations in the androgen receptor gene.
Clinical endocrinology - 1 Jul 1995
Davies H R, Hughes I A, Patterson M N
Abstract excerpt
OBJECTIVE: Androgen insensitivity syndrome is a disorder of male sexual development which results in varying degrees of undervirilization in 46XY individuals with functional testes. In the most severe form, complete androgen insensitivity syndrome (CAIS), patients have a normal female appearance....
Topics
- Adolescent
- Androgens
- Base Sequence
- Child, Preschool
- Disorders of Sex Development
- Female
- Genetic Counseling
- Humans
- Infant
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymorphism, Genetic
- Polymorphism, Single-Stranded Conformational
- Receptors, Androgen
- Sequence Analysis, DNA