Article
Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome.
Clinical endocrinology - 1 Jul 2005
Deeb A, Mason C, Lee Y S, Hughes I A
Abstract excerpt
OBJECTIVE: Partial androgen insensitivity syndrome (PAIS) is a heterogeneous group of intersex disorders characterized by a typical perineoscrotal hypospadias/micropenis phenotype, and a normal androgen-producing testis. Various mutations in the androgen receptor (AR) are known to cause PAIS. Phenotypic expression is widely variable and there are no agreed guidelines to determine the sex of rearing in individuals...
Topics
- Amino Acids
- Androgen-Insensitivity Syndrome
- Child
- Child Rearing
- DNA Mutational Analysis
- Exons
- Family Health
- Female
- Gender Identity
- Genotype
- Humans
- Male
- Mutation, Missense
- Phenotype
- Receptors, Androgen
- Virilism