Article
Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome.
Archives of disease in childhood - 1 Apr 1993
Batch J A, Davies H R, Evans B A, Hughes I A, Patterson M N
Abstract excerpt
The partial androgen insensitivity syndrome occurs in 46,XY subjects with phenotypes ranging from perineoscrotal hypospadias with cryptorchidism and micropenis (mild undervirilisation) to clitoromegaly and partial labial fusion (marked undervirilisation). Within an affected family, wide variation in the degree of genital ambiguity between individuals can be seen. Two cousins of a previously reported subject who...
Topics
- Androgens
- Base Sequence
- Cryptorchidism
- Exons
- Female
- Gonadal Dysgenesis
- Heterozygote
- Humans
- Hypospadias
- Infant, Newborn
- Male
- Molecular Sequence Data