Androgen insensitivity syndrome: a survey of diagnostic procedures and management in the UK
a Department of Paediatrics, University of
Cambridge, Addenbrookes Hospital, b University College London Hospitals,
Great Ormond Street Hospital, and Middlesex Hospital,
London
Correspondence to: Professor I A Hughes, Department of Paediatrics, Addenbrookes Hospital, Level 8, Box 116, Hills Road, Cambridge CB2 2QQ.
Accepted 10 June 1997
OBJECTIVE
A two year survey of androgen
insensitivity syndrome (AIS) to assess current diagnostic and
management strategies.
METHODSCases were ascertained by inclusion on the
British Paediatric Surveillance Unit monthly report card for 24 months.
RESULTSFifty one of 139 notifications were
confirmed as AIS; 29 cases were complete AIS and 22 cases partial AIS.
Seventy six per cent of complete AIS presented with an inguinal hernia,
and half the complete AIS patients had an established family history of the disorder. Presentation in the partial AIS group was through ambiguous or undermasculinised genitalia; 59% of partial AIS were raised as male.
CONCLUSIONSThe importance of karyotyping girls
with inguinal hernias is confirmed, and further attention should be
given to genetic counselling for families of complete AIS patients. A
large number of cases were misreported as partial AIS, emphasising the
importance of undertaking a comprehensive diagnostic evaluation in
intersex states. A large percentage of children with partial AIS were
raised as boys despite severe genital undermasculinisation, indicating the current lack of validated measures that predict genital response to
androgen treatment. The management of AIS is discussed and diagnostic
guidelines provided to improve the diagnostic yield in AIS.
|
Key messages
|
© 1997 by Archives of Disease in Childhood
CiteULike 
Complore 
Connotea 
Del.icio.us 
Digg 
Reddit 
Technorati What's this?
This article has been cited by other articles:
-
Ribarski, I., Lehavi, O., Yogev, L., Hauser, R., Bar-Shira Maymon, B., Botchan, A., Paz, G., Yavetz, H., Kleiman, S.E.
(2009). USP26 gene variations in fertile and infertile men. Hum Reprod
24: 477-484
[Abstract] [Full Text] -
Rangecroft, L
(2003). Surgical management of ambiguous genitalia. Arch. Dis. Child.
88: 799-801
[Abstract] [Full Text] -
Ahmed, S. F., Cheng, A., Dovey, L., Hawkins, J. R., Martin, H., Rowland, J., Shimura, N., Tait, A. D., Hughes, I. A.
(2000). Phenotypic Features, Androgen Receptor Binding, and Mutational Analysis in 278 Clinical Cases Reported as Androgen Insensitivity Syndrome. J. Clin. Endocrinol. Metab.
85: 658-665
[Abstract] [Full Text] -
Ng, K L, Ahmed, S F, Hughes, I A
(2000). Pituitary-gonadal axis in male undermasculinisation. Arch. Dis. Child.
82: 54-58
[Abstract] [Full Text] -
Ahmed, S F, Cheng, A, Hughes, I A
(1999). Assessment of the gonadotrophin-gonadal axis in androgen insensitivity syndrome. Arch. Dis. Child.
80: 324-329
[Abstract] [Full Text]
- Full Text
- Full Text (PDF)
- Submit a response
- Alert me when this article is cited
- Alert me when eLetters are posted
- Alert me if a correction is posted
- Citation Map
Services
- Email this link to a friend
- Similar articles in ADC Online
- Similar articles in PubMed
- Add article to my folders
- Download to citation manager
- Request Permissions
Citing Articles
Google Scholar
PubMed
Topic Collections
Bookmark with
Register for free content
The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.
Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.
