Document Detail

Inguinal hernia in female infants: a cue to check the sex chromosomes?
MedLine Citation:
PMID:  16042738     Owner:  NLM     Status:  MEDLINE    
OBJECTIVES: To review the clinical presentation of complete androgen insensitivity syndrome (CAIS) and assess the current practice of considering the diagnosis of CAIS in female infants presenting with inguinal hernia. PATIENTS AND METHODS: AIS arises from target tissue resistance to the actions of androgens due to molecular abnormalities in the androgen receptor. Patients with CAIS are born with normal external female genitalia, and although inguinal hernias are uncommon in female infants, they are a well-known presentation of CAIS. Such patients were identified from the Cambridge Intersex Database and details of presentation, presence and laterality of inguinal hernia and contents, and family history of CAIS, were recorded. A questionnaire detailing different indications for considering CAIS in female infants with a hernia was distributed to members of the British Association of Paediatric Surgeons and the British Society for Paediatric Endocrinology and Diabetes. RESULTS: More than half of patients with CAIS presented with inguinal hernia, of which half were bilateral and a third contained gonads. Completed questionnaires were returned by 87 surgeons and 64 endocrinologists, and most of the surgeons and endocrinologists would consider CAIS in all female infants with a hernia. Bilateral hernias, hernias containing gonads and a family history of CAIS would prompt clinicians to consider the diagnosis. CONCLUSION: Most clinicians agreed that CAIS should be considered in all female infants with inguinal hernia, as this is the commonest mode of presentation in childhood. Macroscopic inspection of the internal genital structures coupled, perhaps, with gonadal biopsy is recommended. Fluorescence in situ hybridization offers a rapid and reliable method to check the sex chromosomes. Liaison between the paediatric surgeon and endocrinologist is essential in management of infants with CAIS.
Asma Deeb; Ieuan A Hughes
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  BJU international     Volume:  96     ISSN:  1464-4096     ISO Abbreviation:  BJU Int.     Publication Date:  2005 Aug 
Date Detail:
Created Date:  2005-07-26     Completed Date:  2005-09-12     Revised Date:  2006-07-18    
Medline Journal Info:
Nlm Unique ID:  100886721     Medline TA:  BJU Int     Country:  England    
Other Details:
Languages:  eng     Pagination:  401-3     Citation Subset:  IM    
University Department of Paediatrics, Cambridge University, Cambridge, UK.
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MeSH Terms
Androgen-Insensitivity Syndrome / diagnosis*
Child, Preschool
Diagnosis, Differential
Hernia, Inguinal / etiology*,  pathology
Middle Aged
Sex Chromosomes*

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