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Genital abnormalities associated with BBS

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Genital abnormalities in BBS

  • many individuals with BBS have genital abnormalities
    • in men there is often a very small penis associated with undescended testes. It is rare for a male sufferer of BBS to be fertile
    • in females the phenotype can be more varied with differing degrees of development occurring at the fallopian tubes, ovaries, uterus and vagina
      • women can suffer from primary amenorrhoea or, more commonly, oligomenorrhoea and although some women with BBS are fertile, many are infertile
    • in addition to defects in the genitalia there may also be defects within the gastrointestinal and urinary systems

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