Ambiguous genitalia in an elderly woman with a mosaic 45,X/46,X,DIC(Y)(Q11.2) karyotype

Yolanda R. Smith, Gail Stetten, Lawrence Charity, Christina Isacson, John P. Gearhart, Anne B. Namnoum

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


A 66-year-old woman presented with clitoromegaly since childhood, primary amenorrhea, no breast development, and a large right inguinal hernia. A mosaic karyotype was identified containing a predominant 45,X cell line and a cell line with 46 chromosomes, one X chromosome, and a small dicentric Y chromosome with a breakpoint in band q11.2. The patient underwent hysterectomy, bilateral gonadectomy, inguinal hernia repair, clitoral recession, and formation of a neointroitus. A dysgerminoma was identified in the right dysgenetic gonad. This report demonstrates the natural history of untreated mixed gonadal dysgenesis and the importance of early evaluation and treatment, as well as the molecular characterization of a dicentric Y chromosome.

Original languageEnglish (US)
Pages (from-to)259-262
Number of pages4
Issue number2
StatePublished - Feb 1996

ASJC Scopus subject areas

  • Urology


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