Brief clinical report: renal hypodysplasia and unilateral ovarian agenesis in the penta-X syndrome.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000782:Aneuploidy; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007668:Kidney / Q000002:abnormalities*; D010053:Ovary / Q000002:abnormalities*; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome