Unilateral Renal Hypoplasia And Contralateral Renal Agenesis: A New Association With 45,X/46,XY Mosaicism

Josephr Wax, Gayathri Prabhakar, Romana Giraldez, Groverm Hutchins, Gail Stetten, Karinj Blakemore

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)184-186
Number of pages3
JournalAmerican journal of perinatology
Issue number3
StatePublished - May 1994

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynecology


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