Clinical and genetic study of a 46, XX man with occult mosaicism

To describe a 46,XX male with a hidden mosaicism. Clinical, hormonal and genetic findings are presented. 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 o...

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Veröffentlicht in:	Archivos españoles de urología 2002-10, Vol.55 (8), p.952-954
Hauptverfasser:	Maciá Bobes, Carmen, Alonso Troncoso, Isabel, Botas Cervero, Patricia, Castaño Fernández, Gloria, Fau Cubero, Carmen
Format:	Artikel
Sprache:	spa
Schlagworte:	Adult Chromosome Deletion Chromosomes, Human, Y - genetics Chromosomes, Human, Y - ultrastructure Follicle Stimulating Hormone - blood Gynecomastia - etiology Humans Klinefelter Syndrome - blood Klinefelter Syndrome - genetics Luteinizing Hormone - blood Male Mosaicism - genetics Phenotype Prolactin - blood Puberty, Delayed - etiology Sex Chromosome Aberrations Sex Determination Processes Testosterone - blood Testosterone - therapeutic use
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Beschreibung
Zusammenfassung:	To describe a 46,XX male with a hidden mosaicism. Clinical, hormonal and genetic findings are presented. 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. XX males karyotype must include a great number of metaphases in order to ascertain a definitive genetic diagnosis.
ISSN:	0004-0614