Brief clinical report: renal hypodysplasia and unilateral ovarian agenesis in the penta-X syndrome

Am J Med Genet. 1980;6(2):153-62. doi: 10.1002/ajmg.1320060209.

Abstract

We report the case of a 3-year-old penta-X female with two previously undescribed anomalies: hypoplastic kidney and absent ipsilateral ovary. The gross and histologic structure of the contralateral ovary was normal, suggesting that adults with this syndrome may be fertile.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Aneuploidy
  • Child, Preschool
  • Face / abnormalities
  • Female
  • Gonadal Dysgenesis / genetics*
  • Growth Disorders / genetics
  • Heart Defects, Congenital / genetics
  • Humans
  • Intellectual Disability / genetics
  • Kidney / abnormalities*
  • Ovary / abnormalities*
  • Sex Chromosome Aberrations / genetics*
  • X Chromosome