Article
Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism.
PLoS medicine - 22 Apr 2008
Kossack Nina, Simoni Manuela, Richter-Unruh Annette, Themmen Axel P N, Gromoll Jörg
Abstract excerpt
BACKGROUND: Male pseudohermaphroditism, or Leydig cell hypoplasia (LCH), is an autosomal recessive disorder in individuals with a 46,XY karyotype, characterized by a predominantly female phenotype, a blind-ending vagina, absence of breast development, primary amenorrhea, and the presence of testicular structures. It is caused by mutations in the luteinizing hormone/chorionic gonadotropin receptor gene (LHCGR),...
Topics
- Adult
- Disorders of Sex Development
- Exons
- Female
- Humans
- Leydig Cells
- Luteinizing Hormone
- Male
- Mutation
- Receptors, LH
- Testis