Ságodi L, Lukács V, Lechner E
Rendelöintézet, Borsod-Abaúj-Zemplén Megyei Kórház, Miskolc.
Orv Hetil. 1999 Aug 8;140(32):1787-90.
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.
作者介绍了一例在新生儿期诊断出的49,XXXXY综合征病例。在对两性生殖器畸形进行检查时发现了性染色体异常。作者详细探讨了该综合征可能的发病机制及其临床症状。他们强调了睾酮替代治疗以及青春期适时启动，还有早期智力和社交发展的重要性。
