Severe ovarian dysgenesis and enlarged dysplastic kidneys in two siblings with normal karyotypes

OBJECTIVE: To report a rare case of two normally karyotyped 46,XX siblings with severe ovarian dysgenesis and enlarged dysplastic kidneys. DESIGN: Case report.Rabin Medical Center, a major tertiary university-affiliated care and referral facility. PATIENT(S): 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. INTERVENTION(S): Prostaglandin-induced pregnancy terminations with feticide. MAIN OUTCOME MEASURE(S): Light microscopy observations. RESULT(S): 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. CONCLUSION(S): 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.