[Clinical and genetic study of a 46, XX man with occult mosaicism ].
OBJECTIVE
To describe a 46,XX male with a hidden mosaicism.


METHODS
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.


CONCLUSIONS
XX males karyotype must include a great number of metaphases in order to ascertain a definitive genetic diagnosis.
Maciá Bobes
Carmen
C
Unidad de Endocrinología, Hospital San Agustín, Avilés, Asturias, España. cmacb@arrakis.es
Alonso Troncoso
Isabel
I
Botas Cervero
Patricia
P
Castaño Fernández
Gloria
G
Fau Cubero
Carmen
C
D000328:Adult; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics / Q000648:ultrastructure; D005640:Follicle Stimulating Hormone / Q000097:blood; D006177:Gynecomastia / Q000209:etiology; D006801:Humans; D007713:Klinefelter Syndrome / Q000097:blood / Q000235:genetics*; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D010641:Phenotype; D011388:Prolactin / Q000097:blood; D011628:Puberty, Delayed / Q000209:etiology; D012729:Sex Chromosome Aberrations; D019849:Sex Determination Processes; D013739:Testosterone / Q000097:blood / Q000627:therapeutic use
D013739:Testosterone; D011388:Prolactin; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone