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Female pseudohermaphroditism with complete masculinisation of the external genitalia in two siblings. A new entity?

Complete masculinisation of the external genitalia (type V of Prader classification) is reported in two siblings with normal internal female genitalia, normal ovaries and a 46,XX chromosome constitution in different cell lines without any detectable source of exposure to androgen during pregnancy.[1]

References

  1. Female pseudohermaphroditism with complete masculinisation of the external genitalia in two siblings. A new entity? Fryns, J.P., Kleczkowska, A., Vandenberghe, K., Haspeslagh, M., Van den Berghe, H. Eur. J. Pediatr. (1984) [Pubmed]
 
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