Archivos espanoles de urologia · 2002
[Clinical and genetic study of a 46, XX man with occult mosaicism ].
Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
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Maciá Bobes Carmen, Alonso Troncoso Isabel, Botas Cervero Patricia, Castaño Fernández Gloria, Fau Cubero Carmen
Аннотация
OBJECTIVE: To describe a 46,XX male with a hidden mosaicism.
METHOD: Clinical, hormonal and genetic findings are presented.
RESULTS: The patient was a normal phenotypic male with a bilateral testicular volume of 10 ml. Hypergonadotropic hypogonadism (elevated serum concentrations of FSH and LH, and normal serum concentration of testosterone) without gynecomastia was found. Final karyotype was a 46,XX/47,XX + mar mosaic, with 3% of studied cells containing an abnormal SRY positive Y chromosome.
CONCLUSION: XX males karyotype must include a great number of metaphases in order to ascertain a definitive genetic diagnosis.
METHOD: Clinical, hormonal and genetic findings are presented.
RESULTS: The patient was a normal phenotypic male with a bilateral testicular volume of 10 ml. Hypergonadotropic hypogonadism (elevated serum concentrations of FSH and LH, and normal serum concentration of testosterone) without gynecomastia was found. Final karyotype was a 46,XX/47,XX + mar mosaic, with 3% of studied cells containing an abnormal SRY positive Y chromosome.
CONCLUSION: XX males karyotype must include a great number of metaphases in order to ascertain a definitive genetic diagnosis.