title: Kallmann syndrome and paranoid schizophrenia: a rare combination.
abstract: Kallmann syndrome (KS) is a genetically heterogeneous and rare disorder characterised by the combination of hypothalamic hypogonadism and anosmia/hyposmia, a variable degree of intellectual disability and several somatic anomalies. In about one-third of the patients, mutations have been identified in at least seven different genes. Virtually no data are available about possible neuropsychiatric symptoms in KS. Here, a young adult male is described with a previous clinical diagnosis of KS and recent paranoid schizophrenia of which positive, but not negative symptoms, fully remitted upon treatment with antipsychotics. Neither genome-wide array analysis nor mutation analyses disclosed imbalances or mutations in any of presently known KS disease genes. This is the first report on a patient with KS and paranoid schizophrenia in whom extensive genetic analyses were performed. It is concluded that further studies are warranted in order to elucidate a possible increased risk for psychiatric symptoms in patients with KS.
authors: Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands. wverhoeven@vvgi.nl
authors: Willem M A
authors: WM
authors: Verhoeven
authors: Jos I M
authors: JI
authors: Egger
authors: Johannes E
authors: JE
authors: Hovens
authors: Lies
authors: L
authors: Hoefsloot
mesh_terms: D000328:Adult; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D006801:Humans; D017436:Kallmann Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D010641:Phenotype; D012563:Schizophrenia, Paranoid / Q000150:complications* / Q000175:diagnosis / Q000235:genetics
chemical_list: D004247:DNA