| Literature DB >> 23329708 |
Willem M A Verhoeven1, Jos I M Egger, Johannes E Hovens, Lies Hoefsloot.
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.Entities:
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Year: 2013 PMID: 23329708 PMCID: PMC3604460 DOI: 10.1136/bcr-2012-007387
Source DB: PubMed Journal: BMJ Case Rep ISSN: 1757-790X