title: Severe ovarian dysgenesis and enlarged dysplastic kidneys in two siblings with normal karyotypes.
abstract: OBJECTIVE
  To report a rare case of two normally karyotyped 46,XX siblings with severe ovarian dysgenesis and enlarged dysplastic kidneys.
  
  
  METHODS
  Case report. Rabin Medical Center, a major tertiary university-affiliated care and referral facility.
  
  
  METHODS
  A healthy 30-31-year-old woman underwent termination of two pregnancies at 22 and 23 gestational weeks because of ultrasonographic observations of enlarged kidneys in both fetuses.
  
  
  METHODS
  Prostaglandin-induced pregnancy terminations with feticide.
  
  
  METHODS
  Light microscopy observations.
  
  
  RESULTS
  Both siblings had a 46,XX karyotype, and the maternal alpha-fetoprotein level was within normal limits. In the first, no ovaries were identified, and in the second, bilateral streak ovaries devoid of ova were noted. In both cases, pathological examinations identified large dysplastic kidneys, with dysplastic changes in certain medullary areas. Apart from the kidneys and ovaries, all other organs were normal.
  
  
  CONCLUSIONS
  To the best of our knowledge, this is the first report of two normally karyotyped 46,XX siblings with severe ovarian dysgenesis and renal abnormalities but without any other malformations.
authors.affiliation: Department of Obstetrics and Gynecology, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel. ronita@clalit.org.il
authors.forename: Ronit
authors.initials: R
authors.lastname: Abir
authors.forename: Mati
authors.initials: M
authors.lastname: Glasner
authors.forename: Diana
authors.initials: D
authors.lastname: Braslavski
authors.forename: Dov
authors.initials: D
authors.lastname: Dicker
authors.forename: Dov
authors.initials: D
authors.lastname: Feldberg
authors.forename: Benjamin
authors.initials: B
authors.lastname: Fisch
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D005260:Female; D006801:Humans; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities / Q000000981:diagnostic imaging* / Q000473:pathology; D010053:Ovary / Q000002:abnormalities / Q000000981:diagnostic imaging* / Q000473:pathology; D011247:Pregnancy; D016216:Ultrasonography, Prenatal