Zusammenfassung
2 Geschwister mit männlichem Pseudohermaphroditismus (ohne Uterus) aus einer Familie mit vielen anderen Defekten waren bezüglich ihrer endokrinen und genitalen Entwicklung, wegen Hodenmalignomen und cytogenetisch von besonderem Interesse. 4 aufeinanderfolgende Lymphozytenkulturen im Abstand von je einem Jahr zeigten einen Karyotyp 46,XY mit jeweils wenigen 47,XXY-Zellen. Der ältere Patient entwickelte in beiden Gonaden simultan einen Tumor. Beim jüngeren waren die Hoden von normaler Größe, aber bei keinem Patienten konnte irgendein Spermatogenesestadium nachgewiesen werden. Die Diskussion der Fälle soll zeigen, daß heute eine klare Unterteilung des Komplexes Pseudohermaphroditismus masculinus anzustreben ist.
Summary
2 cases of male pseudohermaphroditism (without uterus) in a sibship with many other defects showed interesting features in regard to endocrine and genital development, gonadal malignancy, and cytogenetics. In 4 subsequent lymphocyte cultures at one years' interval the karyotype was 46,XY with a few 47,XXY cells. The elder patient developed a malignoma in both gonads simultaneously. In the younger one the testes had normal size, but no stage of spermatogenesis could be demonstrated either. The cases are being discussed with special emphasis to the fact that today the pseudohermaphroditismus masculinus complex should be divided in clear cut subunits since new insights are coming from very different fields of work.
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Sachsse, W., Gilfrich, H.J. & Overzier, C. Schwierig einzuordnende Intersexformen. Klin Wochenschr 48, 341–346 (1970). https://doi.org/10.1007/BF01484860
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DOI: https://doi.org/10.1007/BF01484860