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Bilateral seminomas in a 45X/46XY mosaic with Turner's phenotype: An unusual case of mixed gonadal dysgenesis
Author(s) -
Kriplani Alka,
Agarwal Nutan,
Sharma Meharchand C.,
Manchanda Ranjit
Publication year - 2003
Publication title -
journal of obstetrics and gynaecology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 50
eISSN - 1447-0756
pISSN - 1341-8076
DOI - 10.1046/j.1341-8076.2003.00028.x
Subject(s) - gonadal dysgenesis , medicine , turner syndrome , karyotype , gonad , gynecology , phenotype , pediatrics , endocrinology , chromosome , genetics , biology , gene
A wide spectrum of phenotypic manifestations are seen in cases with 45X/46XY mosaicism. We present a case with 45X/46XY having female phenotype with Turner's stigmata. Prophylactic laparoscopic gonadectomy was performed and the patient was found to have mixed gonadal dysgenesis with bilateral gonadoblastomas. Microinvasive seminomas were also detected in both gonadoblastomas. The presence of Y cell line in karyotype prompted early and prophylactic gonadectomy, a procedure which is life‐saving for these individuals.