[A case of neonatal 49,XXXXY syndrome].
The authors present the case of 49,XXXXY syndrome diagnosed in neonatal age. During the investigation of ambiguous genitalia was identified sex chromosome anomaly. The authors deal with possible pathogenesis of the syndrome and its clinical symptoms in details. They emphasize the importance of both testosterone substitution with pubertal timing, and early intellectual and social development.
Ságodi
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L
Rendelöintézet, Borsod-Abaúj-Zemplén Megyei Kórház, Miskolc.
Lukács
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Lechner
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E
D000015:Abnormalities, Multiple; D000782:Aneuploidy; D002585:Cesarean Section; D005260:Female; D006801:Humans; D006972:Hypertelorism; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis* / Q000628:therapy; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome