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- Title
Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism.
- Authors
Kossack, Nina; Simoni, Manuela; Richter-Unruh, Annette; Themmen, Axel P N; Gromoll, Jörg
- Abstract
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), which impair either LH/CG binding or signal transduction. However, molecular analysis has revealed that the LHCGR is apparently normal in about 50% of patients with the full clinical phenotype of LCH. We therefore searched the LHCGR for novel genomic elements causative for LCH.
- Publication
PLoS medicine, 2008, Vol 5, Issue 4, pe88
- ISSN
1549-1676
- Publication type
Journal Article
- DOI
10.1371/journal.pmed.0050088