title: Growth hormone deficiency and empty sella syndrome in a boy with dup(X) (q13.3----q21.2).
abstract: A 2 8/12-year-old boy with severe growth failure and mental retardation was found to have a maternally derived tandem duplication of the long arm of X chromosome, dup(X) (q13.3----q21.2). Karyotypic interpretation was further confirmed in this patient by a double gene dose for red blood cell phosphoglycerate kinase. DNA replication study showed that the duplicated X chromosome was always late replicating in peripheral blood lymphocytes as well as in skin fibroblasts from the mother. Endocrine studies in the patient demonstrated growth hormone deficiency. Magnetic resonance imaging of the head then disclosed the empty sella syndrome. This appears to be the first report of a dup(Xq) patient associated with a growth hormone deficiency and the empty sella syndrome. We emphasize that duplication of the proximal Xq in males represents another microduplication syndrome (Thode-Leonard syndrome).
authors.affiliation: Department of Pediatrics, Okayama University Medical School, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Yokoyama
authors.forename: K
authors.initials: K
authors.lastname: Narahara
authors.forename: K
authors.initials: K
authors.lastname: Tsuji
authors.forename: T
authors.initials: T
authors.lastname: Moriwake
authors.forename: S
authors.initials: S
authors.lastname: Kanzaki
authors.forename: M
authors.initials: M
authors.lastname: Murakami
authors.forename: H
authors.initials: H
authors.lastname: Namba
authors.forename: S
authors.initials: S
authors.lastname: Ninomiya
authors.forename: J
authors.initials: J
authors.lastname: Higuchi
authors.forename: Y
authors.initials: Y
authors.lastname: Seino
mesh_terms: D002675:Child, Preschool; D004652:Empty Sella Syndrome / Q000235:genetics*; D005260:Female; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D007621:Karyotyping; D008297:Male; D005810:Multigene Family / Q000235:genetics*; D010735:Phosphoglycerate Kinase / Q000097:blood / Q000235:genetics; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome
chemical_list: D013006:Growth Hormone; D010735:Phosphoglycerate Kinase