title: Hypothalamic growth hormone deficiency in a patient with ring chromosome 18.
abstract: We report on a boy with a ring 18 chromosome associated with hypothalamic growth hormone (GH) deficiency. A 12-month trial of GH replacement therapy (0.5 U/kg/week) resulted in a marked growth acceleration. Our findings emphasise the need of evaluating GH secretion in patients with abnormalities of the 18 chromosome.
authors.affiliation: Istituto di Clinica e Biologia dell'età Evolutiva, Università degli Studi di Cagliari, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Meloni
authors.forename: L
authors.initials: L
authors.lastname: Boccone
authors.forename: L
authors.initials: L
authors.lastname: Angius
authors.forename: S
authors.initials: S
authors.lastname: Loche
authors.forename: A M
authors.initials: AM
authors.lastname: Falchi
authors.forename: A
authors.initials: A
authors.lastname: Cao
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002887:Chromosomes, Human, Pair 18; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D012303:Ring Chromosomes
chemical_list: D013006:Growth Hormone