Deletion of the long arm of the Y chromosome in an adolescent with short stature and hypogonadism.
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.
Botella-Carretero
J I
JI
Department of Pediatrics, Hospital Ramón y Cajal, Madrid, Spain.
Valero
M A
MA
Valcorba
I
I
Ezquieta
B
B
Alonso
M
M
Barrio
R
R
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
D013255:Steroid 21-Hydroxylase