title: Deletion of the long arm of the Y chromosome in an adolescent with short stature and hypogonadism.
abstract: We describe a patient with short stature more than that expected for non-treated congenital adrenal hyperplasia due to nonclassic 21-hydroxylase deficiency with deletions in the long arm of the Y chromosome including the CGY gene and the AZF subregions.
authors.affiliation: Department of Pediatrics, Hospital Ramón y Cajal, Madrid, Spain.
authors.forename: J I
authors.initials: JI
authors.lastname: Botella-Carretero
authors.forename: M A
authors.initials: MA
authors.lastname: Valero
authors.forename: I
authors.initials: I
authors.lastname: Valcorba
authors.forename: B
authors.initials: B
authors.lastname: Ezquieta
authors.forename: M
authors.initials: M
authors.lastname: Alonso
authors.forename: R
authors.initials: R
authors.lastname: Barrio
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000201:enzymology; D001827:Body Height; D003456:Cryptorchidism / Q000150:complications; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D007006:Hypogonadism / Q000150:complications / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D016133:Polymerase Chain Reaction; D011629:Puberty, Precocious / Q000235:genetics; D012729:Sex Chromosome Aberrations; D013255:Steroid 21-Hydroxylase / Q000235:genetics; D014998:Y Chromosome
chemical_list: D013255:Steroid 21-Hydroxylase