title: [Androgen insensitivity syndrome - case report].
abstract: OBJECTIVE
  Presentation of a familiar incidence of complete androgen insensitivity syndrome.
  
  
  METHODS
  Case report with literature review.
  
  
  METHODS
  Department of Gynecology and Obstetrics, Department of Pediatrics, Medical Faculty and University Hospital in Pilsen, Charles University in Prague.
  
  
  CONCLUSIONS
  Androgen insensitivity syndrome is the most common male-hermaphroditism. Affected individuals have a male karyotype, but owing to the unresponsiveness of the cells to androgens a disruption in sexual development occurs. Clinical picture of the syndrome is very variable. Our case-report deals with a familiar incidence of complete androgen insensitivity syndrome, formerly incorrectly called "testicular feminization syndrome". The karyotype of these individuals is 46, XY. They have female external genitalia, male gonads, the uterus and fallopian tubes are missing and vagina is shorter. In this case, the complete androgen insensitivity syndrome was diagnosed in two sisters in childhood as a part of reduced growth investigation. The same syndrome was also detected in their mothers sister. Both girls already underwent laparoscopic gonadectomy. The older one started at the age of 11 with estrogen replacement therapy.
authors.forename: S
authors.initials: S
authors.lastname: Khollová
authors.forename: E
authors.initials: E
authors.lastname: Hrdonková
authors.forename: R
authors.initials: R
authors.lastname: Pomahačová
mesh_terms: D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D002648:Child; D015914:Estrogen Replacement Therapy / Q000379:methods*; D005260:Female; D006801:Humans; D007621:Karyotyping; D010535:Laparoscopy / Q000379:methods*; D008297:Male; D010052:Ovariectomy / Q000379:methods*