Sumathipala Dulika, Gamage Thilini, Wijesiriwardena Bandula, Jayasekara Rohan W, Dissanayake Vajira H W
Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
J Clin Res Pediatr Endocrinol. 2012 Dec;4(4):223-5. doi: 10.4274/jcrpe.764. Epub 2012 Oct 2.
49,XXXXY is a rare sex chromosome polysomy with an incidence of 1 in 85 000 male births. It has a characteristic triad of mental retardation, skeletal malformation and hypogonadism. This is the first case report of a child with 49,XXXXY syndrome and renal agenesis. This child was referred for genetic testing at 14 years of age due to facial dysmorphism and hypergonadotropic hypogonadism. He had coarse facial features, cryptorchidism of the right testis, genu valgus deformities, and patent ductus arteriosus which are known associations of 49,XXXXY syndrome. He also had agenesis of the right kidney, hydronephrosis of the left kidney with hydroureter which is not a known association of 49,XXXXY syndrome. The patient was the offspring of a mother with gestational diabetes. There is a strong correlation between maternal diabetes and congenital anomalies, especially renal and cardiovascular anomalies. Additionally, it has been noted that gestational diabetes increases the incidence of chromosomal aneuploidies. The teratogenic effects of maternal diabetes during embryogenesis may be the causative factor for the final phenotype of 49,XXXXY syndrome and renal agenesis.
49,XXXXY是一种罕见的性染色体多体性疾病，在男性出生中的发病率为1/85000。它具有智力发育迟缓、骨骼畸形和性腺功能减退这一特征性三联征。这是首例关于一名患有49,XXXXY综合征并伴有肾缺如的儿童的病例报告。该儿童因面部畸形和高促性腺激素性性腺功能减退于14岁时被转诊进行基因检测。他有面部特征粗糙、右侧睾丸隐睾、膝外翻畸形和动脉导管未闭，这些都是49,XXXXY综合征的已知相关表现。他还存在右肾缺如、左肾积水伴输尿管积水，而这并非49,XXXXY综合征的已知相关表现。该患者是一名患有妊娠期糖尿病母亲的后代。母亲糖尿病与先天性畸形之间存在很强的相关性，尤其是肾脏和心血管畸形。此外，已经注意到妊娠期糖尿病会增加染色体非整倍体的发生率。母亲糖尿病在胚胎发育过程中的致畸作用可能是导致49,XXXXY综合征和肾缺如最终表型的致病因素。
