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The use of mouth brushings for screening girls who present with inguinal hernia for complete androgen insensitivity syndrome

The use of mouth brushings for screening girls who present with inguinal hernia for complete androgen insensitivity syndrome
The use of mouth brushings for screening girls who present with inguinal hernia for complete androgen insensitivity syndrome
Introduction: 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).

Conclusion: 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
0939-7248
136-138
Rahman, Shakeel
e9e7d255-6aa3-4dae-980f-1aa2892ca5f0
Hall, Nigel
3e018918-b10b-420e-ba19-54416a7fdfe6
Crolla, John
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Robinson, David
dcef4b3b-ac9b-4c1b-b8b2-1bee4b81a8cc
Stanton, Michael
eb3258f5-245b-454a-9556-9ef3d0ebb87d
Burge, David
17a2f2a5-6228-4192-92df-838e0cccdbe5
Rahman, Shakeel
e9e7d255-6aa3-4dae-980f-1aa2892ca5f0
Hall, Nigel
3e018918-b10b-420e-ba19-54416a7fdfe6
Crolla, John
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Robinson, David
dcef4b3b-ac9b-4c1b-b8b2-1bee4b81a8cc
Stanton, Michael
eb3258f5-245b-454a-9556-9ef3d0ebb87d
Burge, David
17a2f2a5-6228-4192-92df-838e0cccdbe5

Rahman, Shakeel, Hall, Nigel, Crolla, John, Robinson, David, Stanton, Michael and Burge, David (2012) The use of mouth brushings for screening girls who present with inguinal hernia for complete androgen insensitivity syndrome. European Journal of Pediatric Surgery, 22 (2), 136-138. (doi:10.1055/s-0032-1308691). (PMID:22517520)

Record type: Article

Abstract

Introduction: 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).

Conclusion: 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

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More information

Published date: April 2012
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 337454
URI: http://eprints.soton.ac.uk/id/eprint/337454
ISSN: 0939-7248
PURE UUID: e7f1fac3-f306-4cdf-9421-bb0a446e619d

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Date deposited: 26 Apr 2012 10:50
Last modified: 14 Mar 2024 10:53

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Contributors

Author: Shakeel Rahman
Author: Nigel Hall
Author: John Crolla
Author: David Robinson
Author: Michael Stanton
Author: David Burge

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