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.

Screening for Y chromosome microdeletions in childhood: lack of evidence for a direct association with testicular maldescent

“…It is currently clear that Yq11 microdeletions (Yq11-md) represent the most frequent genetic aetiology of severe testiculopathy with an overall incidence around 8% in infertile patients (Foresta et al, 2001). Yq11-md have been sporadically reported in patients with TMD in case report studies (Salo et al, 1995;Botella-Carretero et al, 2001;Papadimas et al, 2001;Dada et al, 2002a) as well as in series of infertile men (Simoni et al, 1997;Grimaldi et al, 1998;Krausz et al, 2001;Maurer et al, 2001;Dohle et al, 2002;Oates et al, 2002;Peterlin et al, 2002;Dada et al, 2003;Quilter et al, 2003;Ferlin et al, 2007). On the other hand, a number of studies involving infertile men in general that included patients with TMD failed to detect such genetic defects (Kremer et al, 1997;Stuppia et al, 1998;Kleiman et al, 1999;Krausz & McElreavey, 1999;Krausz et al, 1999b;;Seifer et al, 1999;Van Landuyt et al, 2000).…”