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

Autor:	Carmen, Maciá Bobes, Isabel, Alonso Troncoso, Patricia, Botas Cervero, Gloria, Castaño Fernández, Carmen, Fau Cubero
Rok vydání:	2002
Předmět:	Adult Male Puberty Delayed Chromosomes Human Y Mosaicism Luteinizing Hormone Sex Determination Processes Prolactin Klinefelter Syndrome Phenotype Gynecomastia Humans Testosterone Chromosome Deletion Follicle Stimulating Hormone Sex Chromosome Aberrations
Zdroj:	Archivos espanoles de urologia. 55(8)
ISSN:	0004-0614
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::43294e0bca3b5c486d7ef3b356ab0033 https://pubmed.ncbi.nlm.nih.gov/12455288 Zobrazit plný text záznamu