[Hermaphroditos in Greek mythology--DSD in moderne medicine].
We report a case of 34 year old woman how has been hospitalized at the age of 6 month with persistent vomitus. The vomitus was found to be caused by adrenal insufficiency with lack of all hormones of steroidobiosynthesis. The phenotypical femal child was diagnosed to have congenital lipoid adrenal hyperplasia with 46,XY DSD. 24 years later a homozygote mutation in the StAR-gene (L260P), which was first described in Switzerland, has been identified.
Universitätsklinik für Allgemeine Innere Medizin, Inselspital, Bern. andreas.oestmann@insel.ch
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Mullis
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D000224:Addison Disease / Q000150:complications* / Q000175:diagnosis; D000312:Adrenal Hyperplasia, Congenital / Q000150:complications* / Q000175:diagnosis; D000328:Adult; D000465:Algorithms; D003937:Diagnosis, Differential; D012734:Disorders of Sex Development / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D009154:Mutation; D009229:Mythology