title: Complete gonadal dysgenesis 46,XY (Swyer syndrome) in two sisters and their mother's maternal aunt with a female phenotype.
abstract: OBJECTIVE
  To present a familial case of Swyer syndrome.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Academic medical center.
  
  
  METHODS
  Two sisters with a main complaint of primary amenorrhea and another case, their mother's maternal aunt with the same history of primary amenorrhea but married with no consanguinity and no children.
  
  
  METHODS
  None.
  
  
  METHODS
  The patients were studied from clinical, endocrinologic, and genetic perspectives.
  
  
  RESULTS
  Chromosome analyses revealed a 46,XY male karyotype with no detectable mosaicism in both sisters and their mother's maternal aunt. Molecular studies of sex-determining region Y and molecular investigation undertaken for the two sisters revealed SRY negativity.
  
  
  CONCLUSIONS
  Gonadal dysgenesis can also be inherited as an X-linked disorder, and evidence exists from familial studies of perhaps autosomal inheritance.
authors.affiliation: Department of Medical Biology, Pamukkale University Faculty of Medicine, Denizli, Turkey.
authors.forename: Gulseren
authors.initials: G
authors.lastname: Bagci
authors.forename: Atil
authors.initials: A
authors.lastname: Bisgin
authors.forename: Sibel Berker
authors.initials: SB
authors.lastname: Karauzum
authors.forename: Bilal
authors.initials: B
authors.lastname: Trak
authors.forename: Guven
authors.initials: G
authors.lastname: Luleci
mesh_terms: D000293:Adolescent; D000328:Adult; D000568:Amenorrhea / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D005190:Family; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D009035:Mothers; D010375:Pedigree; D010641:Phenotype; D012723:Sex; D035781:Siblings