TY - JOUR
T1 - Unilateral Renal Hypoplasia And Contralateral Renal Agenesis
T2 - A New Association With 45,X/46,XY Mosaicism
AU - Wax, Josephr
AU - Prabhakar, Gayathri
AU - Giraldez, Romana
AU - Hutchins, Groverm
AU - Stetten, Gail
AU - Blakemore, Karinj
PY - 1994/5
Y1 - 1994/5
N2 - 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 phenotypicaily 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.
AB - 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 phenotypicaily 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.
UR - http://www.scopus.com/inward/record.url?scp=0028363209&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0028363209&partnerID=8YFLogxK
U2 - 10.1055/s-2008-1040741
DO - 10.1055/s-2008-1040741
M3 - Article
C2 - 8048981
AN - SCOPUS:0028363209
VL - 11
SP - 184
EP - 186
JO - American Journal of Perinatology
JF - American Journal of Perinatology
SN - 0735-1631
IS - 3
ER -