Hemophilia A in a female with gonadal dysgenesis and XX karyotype.
The authors present a case of a coincidence of two very rare diseases in a female--hemophilia A and gonadal dysgenesis; both may be caused by chromosomal and genetic abnormalities. The girl, aged 22, presented severe hemophilia with excessive haematoma after bruising and recurrent hemarthroses, had undeveloped breasts and very hypoplastic internal genital organs. Laboratory tests revealed factor VIII: C - 1%, VIII R: AG - 160%, VIII:WF - 111%, 46, XX karyotype, elevated LH in urine - 25 IU/l. This coincidence had a beneficial effect since there was no menorrhagia.
D000328:Adult; D005260:Female; D006059:Gonadal Dysgenesis / Q000150:complications*; D006395:Hemarthrosis / Q000209:etiology; D006467:Hemophilia A / Q000150:complications*; D006801:Humans; D007621:Karyotyping; D008572:Menarche; D014960:X Chromosome