Abstract
We report on a phenotypically male newborn with 45,X/46,X,dic(Y)-mosaicism. Right-sided inguinal hernia was surgically corrected. Histological examination of the tissue revealed an ambiguously differentiated gonad on this side. The clinical, cytogenetic, and histological results are described and the prognosis and clinical management of these patients are discussed.
Zusammenfassung
Wir berichten von einem phänotypisch männlichen Neugeborenen mit 45,X/46,X,dic(Y)-Mosaik. Eine rechtsseitige Leistenhernie wurde operiert. Die histologische Gewebsuntersuchung ergab mehrdeutige, unklare Gonaden auf der rechten Seite. Die klinischen, zytogenetischen und histologischen Befunde werden beschrieben sowie die Prognose und das Management dieser Patienten diskutiert.
Key words
Gonadal dysgenesis - mosaic nullisomy - 45,X mosaics
Schlüsselwörter
Gonadendysgenesie - Mosaik-Nullisomie - 45,X Mosaike
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Stefan BittmannMD
Department of Pediatric Surgery · University Hospital · Ruhr-University Bochum
Widumerstr. 8
44627 Herne
Germany
Email: sbittmann@web.de
