Deletion of the long arm of the Y chromosome in an adolescent with short stature and hypogonadism

J I Botella-Carretero; M A Valero; I Valcorba; B Ezquieta; M Alonso; R Barrio

doi:10.1515/jpem.2001.14.1.103

Deletion of the long arm of the Y chromosome in an adolescent with short stature and hypogonadism

J Pediatr Endocrinol Metab. 2001 Jan;14(1):103-6. doi: 10.1515/jpem.2001.14.1.103.

Authors

J I Botella-Carretero¹, M A Valero, I Valcorba, B Ezquieta, M Alonso, R Barrio

Affiliation

¹ Department of Pediatrics, Hospital Ramón y Cajal, Madrid, Spain.

PMID: 11220698
DOI: 10.1515/jpem.2001.14.1.103

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.

Publication types

Case Reports

MeSH terms

Adolescent
Adrenal Hyperplasia, Congenital / complications
Adrenal Hyperplasia, Congenital / enzymology
Body Height*
Cryptorchidism / complications
Gene Deletion*
Heterozygote
Humans
Hypogonadism / complications
Hypogonadism / genetics*
Karyotyping
Male
Polymerase Chain Reaction
Puberty, Precocious / genetics
Sex Chromosome Aberrations*
Steroid 21-Hydroxylase / genetics
Y Chromosome*

Substances

Steroid 21-Hydroxylase