TY - JOUR
T1 - Ambiguous genitalia in an elderly woman with a mosaic 45,X/46,X,DIC(Y)(Q11.2) karyotype
AU - Smith, Yolanda R.
AU - Stetten, Gail
AU - Charity, Lawrence
AU - Isacson, Christina
AU - Gearhart, John P.
AU - Namnoum, Anne B.
PY - 1996/2
Y1 - 1996/2
N2 - 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.
AB - 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.
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U2 - 10.1016/S0090-4295(99)80431-2
DO - 10.1016/S0090-4295(99)80431-2
M3 - Article
C2 - 8607249
AN - SCOPUS:0029926161
SN - 0090-4295
VL - 47
SP - 259
EP - 262
JO - Urology
JF - Urology
IS - 2
ER -