Abstract
The authors discuss a case of A 6 year old phenotypic female with true hemophilia. The infants caryotype is 46 X Y, the female phenotype probably explained by gonadal dysgenesis.
Diminished factor VIII in a female phenotypic patient should first be suggestive of VON WILLEBRAND'S disease. After elimination of this diagnosis, two situations are possible :
1 - Pseudo feminine hemophilia in a patient with only one X chromosome such as seen in TURNER'S syndrome (45 X), testicular feminisation syndrome (46 X Y) and in gonadal dysgenesis with a X Y caryotype.
2 - True feminine hemophilia could be observed either exceptionnaly in homozygotic or more frequently in heterozygotic girls with complete gene expression, explained by early inactivation of the two X chromosomes.
In both cases, clinical and laboratory signs resemble that of typical hemophilia, which is easily differentiated from VON WILLEBRAND'S disease.
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Orsini, A., Perrimond, H., Juhan-Vague, I. et al. 14 HEMOPHILIA IN FEMALE PHENOTYPIC PATIENTS. Pediatr Res 13, 950 (1979). https://doi.org/10.1203/00006450-197908000-00030
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DOI: https://doi.org/10.1203/00006450-197908000-00030