title: Mutation analysis of the SRY, NR5A1, and DHH genes in six Chinese 46,XY women.
abstract: OBJECTIVE
  To determine the genetic cause of 46,XY sex reversal in six Chinese women.
  
  
  METHODS
  G-banded karyotyping and mutation analysis of the SRY, NR5A1, and DHH genes using direct sequencing were performed in six Chinese women aged from 15- to 23-year old with poor sexual development and primary amenorrhea. Clinical, endocrinologic, and ultrasonographic evaluation was reported.
  
  
  RESULTS
  Three novel mutations, two heterozygous point mutations in SRY, and one heterozygous microdeletion in NR5A1 were found to be causative in three of the patients.
  
  
  CONCLUSIONS
  This helps pathogenic study and provides new information for genetic counseling of 46,XY sex reversals.
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
authors.forename: Xi
authors.initials: X
authors.lastname: Liao
authors.forename: Desheng
authors.initials: D
authors.lastname: Liang
authors.forename: Yanping
authors.initials: Y
authors.lastname: Li
authors.forename: Hui
authors.initials: H
authors.lastname: Xi
authors.forename: Yi
authors.initials: Y
authors.lastname: Quan
authors.forename: Lingqian
authors.initials: L
authors.lastname: Wu
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D024282:Genes, sry / Q000235:genetics*; D005817:Genetic Counseling / Q000379:methods; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D053823:Hedgehog Proteins / Q000235:genetics*; D006801:Humans; D057830:Gender-Affirming Surgery; D054339:Steroidogenic Factor 1 / Q000235:genetics*; D055815:Young Adult
chemical_list: C509245:DHH protein, human; D053823:Hedgehog Proteins; C515057:NR5A1 protein, human; D054339:Steroidogenic Factor 1