title: A unique case of growth hormone and human chorionic gonadotropin treatment in a 45,X male with Y: autosome translocation and literature review.
abstract: Maleness associated with a 45,X karyotype is a rare condition in childhood. It is usually diagnosed in adult age because of infertility. We report a unique case of an unbalanced translocation t(Y;21) in a 14-year-old boy with 45,X karyotype referred because of short stature, thin habitus and puberty delay. Hormone analysis showed low serum levels of basal testosterone, insulin-like growth factor (IGF-I) and gonadotrophins. Diagnosis of GH deficiency and puberty delay were made. He was treated with human chorionic gonadotropin (hCG) and GH therapy, respectively, for 6 and 24 months.
authors.forename: Arianna
authors.initials: A
authors.lastname: Mareri
authors.forename: MariaLaura
authors.initials: M
authors.lastname: Iezzi
authors.forename: Alessia
authors.initials: A
authors.lastname: Salvatore
authors.forename: Claudio
authors.initials: C
authors.lastname: Ligas
authors.forename: Elvira
authors.initials: E
authors.lastname: D'Alessandro
mesh_terms: D000293:Adolescent; D006063:Chorionic Gonadotropin / Q000235:genetics / Q000378:metabolism / Q000627:therapeutic use*; D002872:Chromosome Deletion; D002891:Chromosomes, Human, Pair 21; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D020732:Cytogenetic Analysis; D004359:Drug Therapy, Combination; D006130:Growth Disorders / Q000209:etiology / Q000517:prevention & control; D019382:Human Growth Hormone / Q000235:genetics / Q000378:metabolism / Q000627:therapeutic use*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009634:Noonan Syndrome / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology; D011628:Puberty, Delayed / Q000209:etiology / Q000517:prevention & control; D011994:Recombinant Proteins / Q000378:metabolism / Q000627:therapeutic use; D013851:Thinness / Q000209:etiology / Q000517:prevention & control; D014178:Translocation, Genetic; D016896:Treatment Outcome
chemical_list: D006063:Chorionic Gonadotropin; D011994:Recombinant Proteins; D019382:Human Growth Hormone