Literature DB >> 23329708

Kallmann syndrome and paranoid schizophrenia: a rare combination.

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.

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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


  19 in total

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Journal:  Nat Genet       Date:  2003-03-10       Impact factor: 38.330

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Journal:  Cell       Date:  1991-10-18       Impact factor: 41.582

9.  Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Authors:  Hyung-Goo Kim; Ingo Kurth; Fei Lan; Irene Meliciani; Wolfgang Wenzel; Soo Hyun Eom; Gil Bu Kang; Georg Rosenberger; Mustafa Tekin; Metin Ozata; David P Bick; Richard J Sherins; Steven L Walker; Yang Shi; James F Gusella; Lawrence C Layman
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  4 in total

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3.  Clinical characteristics and follow-up of 5 young Chinese males with gonadotropin-releasing hormone deficiency caused by mutations in the KAL1 gene.

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4.  Next-generation sequencing refines the genetic architecture of Greek GnRH-deficient patients.

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