Article
Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female.
The Journal of clinical endocrinology and metabolism - 1 Jul 1992
Müller J, Schwartz M, Skakkebaek N E
Abstract excerpt
The first and essential step in normal sexual differentiation takes place during the 5th-6th week of gestation. The testis determining factor (TDF) directs the undifferentiated gonad into a testis, which secretes hormones responsible for normal male development. A new candidate for TDF has recent...
Topics
- Base Sequence
- Disorders of Sex Development
- Female
- Gene Amplification
- Gonadal Dysgenesis, 46,XY
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Sex Determination Analysis
- Y Chromosome