Wax J R, Prabhakar G, Giraldez R A, Hutchins G M, Stetten G, Blakemore K J
Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Am J Perinatol. 1994 May;11(3):184-6. doi: 10.1055/s-2008-1040741.
The association of urinary anomalies with Turner's syndrome is well established. This report describes an unusual antenatal presentation of this cytogenetic disorder and the first reported case of unilateral renal hypoplasia and contralateral renal agenesis in a 45,X/46,XY fetus. The fetus presented with severe third trimester oligohydramnios and symmetrical intrauterine growth retardation at 29 weeks and 2 days' gestation. Chorionic villus cultures revealed a 45,X karyotype. A phenotypically male infant weighing 1833 g was delivered at 35 weeks and 2 days. Chromosomal analysis of the newborn showed a 45,X/46,XY mosaicism, and surgical exploration revealed absence of the left kidney and a hypoplastic right kidney. The infant died at 11 months of age from renal failure and peritonitis. This case demonstrates that monosomy X may be encountered in fetuses with marked growth delay and oligohydramnios. The etiology of the oligohydramnios in this case was a fetal renal malformation not previously described in Turner's syndrome. Antenatal cytogenetic findings should be confirmed postnatally, with a search for mosaicism, when monosomy X is encountered.
泌尿系统异常与特纳综合征的关联已得到充分证实。本报告描述了这种细胞遗传学疾病一种不寻常的产前表现，以及首例45,X/46,XY胎儿单侧肾发育不全和对侧肾缺如的病例。该胎儿在妊娠29周零2天时出现严重的孕晚期羊水过少和对称性宫内生长受限。绒毛膜绒毛培养显示核型为45,X。一名体重1833克的表型男性婴儿在35周零2天时出生。新生儿的染色体分析显示为45,X/46,XY嵌合体，手术探查发现左肾缺如，右肾发育不全。该婴儿在11个月大时死于肾衰竭和腹膜炎。本病例表明，X单体可能出现在有明显生长延迟和羊水过少的胎儿中。本例羊水过少的病因是一种特纳综合征中此前未描述过的胎儿肾畸形。当遇到X单体时，产前细胞遗传学检查结果应在产后得到证实，并排查嵌合体情况。
