45,X/46,X,dic(Y)-Mosaicism in the Newborn

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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