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Screening for complete androgen insensitivity syndrome in girls with inguinal hernia: parental insight
  1. Roxani Georgiou,
  2. Nigel J Hall,
  3. Michael Stanton
  1. Department of Paediatric Surgery, University Hospital Southampton, Southampton, UK
  1. Correspondence to Mr Michael Stanton, Department of Paediatric Surgery, University Hospital Southampton, Tremona Road, Southampton SO16 6YD, UK; michael.stanton{at}uhs.nhs.uk

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Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive disorder resulting from an androgen receptor mutation. Affected individuals have 46,XY karyotype but female phenotype are raised as girls.1 A short vagina and absent uterus result in infertility, likely psychosexual problems and a risk of later gonadal malignancy such that gonadectomy is recommended.2 Presentation may be in adolescence with primary amenorrhoea, but 1% of premenstrual phenotypic girls with inguinal hernia (IH) will have CAIS.3 Despite current recommendations4 ,5 that all premenstrual girls with IH should be screened for CAIS, a survey6 of 32 UK paediatric surgeons found that 63% do not mention CAIS to their parents at any stage and 43% made no …

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Footnotes

  • Contributors RG designed the study, administered the questionnaire, analysed the results and wrote the initial drafts of the manuscript. NJH was involved in the initial study design, data analysis and manuscript writing. MS supervised the study, helped in the study design, data analysis and manuscript writing.

  • Competing interests None.

  • Ethics approval Research and Development Department, University Hospital Southampton.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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