title: The use of mouth brushings for screening girls who present with inguinal hernia for complete androgen insensitivity syndrome.
abstract: BACKGROUND
  Published guidance recommends that all girls with inguinal hernia should be screened for complete androgen insensitivity syndrome (CAIS). We report a novel, noninvasive screening technique.
  
  
  METHODS
  Retrospective review of all girls undergoing inguinal herniotomy from April 2009 to October 2010. Those screened using the novel technique of extraction of Y chromosome specific DNA from a buccal mucosal sample obtained by mouth brushing are reported.
  
  
  RESULTS
  A total of 29 girls were screened by mouth brushing at median age 2.9 years (range 29 days to 9.3 years). Of the 29 samples, 25 were adequate for DNA extraction; 4 were inadequate and screening was repeated (3 repeat mouth brushing, 1 perioperative blood test). Mouth brushing was well tolerated by children and acceptable to parents. A preoperative blood test was avoided in all girls who had a mouth brushing. None of the girls in this study had CAIS. Turn-around time for mouth brushing was mean 4.9 days compared with a minimum of 10 days for a karyotype. This technique is cheaper than a karyotype (£ 87 vs. £ 205).
  
  
  CONCLUSIONS
  Extraction of Y chromosome specific DNA from a mouth brushing sample is effective for screening girls with inguinal hernia for CAIS. It is acceptable, cheaper, and quicker than alternatives.
authors.affiliation: Department of Paediatric Surgery, Southampton General Hospital, Southampton, United Kingdom.
authors.forename: Shakeel M
authors.initials: SM
authors.lastname: Rahman
authors.forename: Nigel J
authors.initials: NJ
authors.lastname: Hall
authors.forename: John A
authors.initials: JA
authors.lastname: Crolla
authors.forename: David O
authors.initials: DO
authors.lastname: Robinson
authors.forename: Michael P
authors.initials: MP
authors.lastname: Stanton
authors.forename: David M
authors.initials: DM
authors.lastname: Burge
mesh_terms: D053523:Amelogenin / Q000235:genetics; D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D041322:Chromosomes, Human, Y / Q000235:genetics; D004247:DNA / Q000235:genetics* / Q000302:isolation & purification; D005260:Female; D024282:Genes, sry; D005820:Genetic Testing / Q000379:methods*; D006552:Hernia, Inguinal / Q000150:complications*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009061:Mouth Mucosa / Q000737:chemistry / Q000166:cytology*; D012189:Retrospective Studies; D017422:Sequence Analysis, DNA
chemical_list: C507202:AMELY protein, human; D053523:Amelogenin; D004247:DNA