title: Hypersexuality, Paraphilic Behaviors, and Gender Dysphoria in Individuals with Klinefelter's Syndrome.
abstract: BACKGROUND
  An increased risk of autistic traits in Klinefelter syndrome (KS) has been reported. In addition, some studies have shown an increased incidence of gender dysphoria (GD) and paraphilia in autism spectrum disorder.
  
  
  OBJECTIVE
  The aim of this study was to evaluate the presence of (i) paraphilic fantasies and behaviors; and (ii) GD symptomatology in KS.
  A sample of 46 KS individuals and 43 healthy male controls (HC) were evaluated. Subjects were studied by means of several psychometric tests, such as Autism Spectrum Quotient (AQ) and Reading the Mind in the Eyes Revised (RME) to measure autistic traits, Gender Identity/GD questionnaire (GIDYQ-AA), and Sexual Addiction Screening Test (SAST). In addition, body uneasiness psychopathological symptoms were assessed using Symptom Checklist 90 Revised (SCL-90-R). The presence and frequency of any paraphilic fantasy and behavior was assessed by means of a clinical interview based on Diagnostic and Statistical Manual of Mental Disorders, 5th Edition criteria. Finally, all individuals included were assessed by Wechsler Adult Intelligence Scale-Revised to evaluate intelligence quotient (IQ). Data from a subsample of a previous published series of male to female GD individuals, with the battery of psychological measures useful to provide a psychopathological explanation of GD in KS population available, was also considered.
  
  
  RESULTS
  When compared with HC, KS reported significantly lower total, verbal and performance IQ scores and higher SCL-90 obsession-compulsive symptoms (all P < 0.001). In line with previously reported findings, KS showed higher autistic traits according with both RME and AQ tests (P < 0.001). With respect to sexuality, KS showed a significant higher frequency of voyeuristic fantasies during masturbation (52.2% vs. 25.6%) and higher SAST scores (P = 0.012). A mediation role of obsessive symptoms on the relationship between Klinefelter and SAST was confirmed (unstandardized estimate b = 2.75, standard error = 0.43 P < 0.001). Finally, KS individuals showed significantly higher gender dysphoric symptoms than HC (P = 0.004), which were mediated by the presence of autistic traits (Sobel's test; P < 0.05).
  
  
  CONCLUSIONS
  KS is associated with hypersexuality, paraphilic behaviors, and GD, which were mediated by obsessive-compulsive and autistic traits.
authors.affiliation: Department of Experimental, Clinical and Biomedical Sciences, Sexual Medicine and Andrology Unit, University of Florence, Florence, Italy.
authors.forename: Alessandra D
authors.initials: AD
authors.lastname: Fisher
authors.affiliation: Department of Experimental, Clinical and Biomedical Sciences, Sexual Medicine and Andrology Unit, University of Florence, Florence, Italy.|Psychiatry Unit, Department of Neurological and Psychiatric Sciences, University of Florence, Florence, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Castellini
authors.affiliation: Department of Experimental, Clinical and Biomedical Sciences, Sexual Medicine and Andrology Unit, University of Florence, Florence, Italy.
authors.forename: Helen
authors.initials: H
authors.lastname: Casale
authors.affiliation: Department of Experimental, Clinical and Biomedical Sciences, Sexual Medicine and Andrology Unit, University of Florence, Florence, Italy.
authors.forename: Egidia
authors.initials: E
authors.lastname: Fanni
authors.affiliation: Department of Experimental, Clinical and Biomedical Sciences, Sexual Medicine and Andrology Unit, University of Florence, Florence, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Bandini
authors.affiliation: Psychiatry Unit, Department of Neurological and Psychiatric Sciences, University of Florence, Florence, Italy.
authors.forename: Beatrice
authors.initials: B
authors.lastname: Campone
authors.affiliation: Psychiatry Unit, Department of Neurological and Psychiatric Sciences, University of Florence, Florence, Italy.
authors.forename: Naika
authors.initials: N
authors.lastname: Ferruccio
authors.affiliation: Department of Experimental, Clinical and Biomedical Sciences, Sexual Medicine and Andrology Unit, University of Florence, Florence, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Maseroli
authors.affiliation: Department of Experimental, Clinical and Biomedical Sciences, Sexual Medicine and Andrology Unit, University of Florence, Florence, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Boddi
authors.affiliation: Department of Health Sciences, University of Florence, Florence, Italy.
authors.forename: Davide
authors.initials: D
authors.lastname: Dèttore
authors.affiliation: Endocrinology Unit, IRCCS, Humanitas Research Hospital, Milan, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Pizzocaro
authors.affiliation: Department of Clinical and Molecular Sciences, Endocrinology, Università Politecnica delle Marche, Ancona, Italy.
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Balercia
authors.affiliation: U.O.C. dell'Azienda Ospedaliero, Universitaria di Monserrato, Monserrato, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Oppo
authors.affiliation: Psychiatry Unit, Department of Neurological and Psychiatric Sciences, University of Florence, Florence, Italy.
authors.forename: Valdo
authors.initials: V
authors.lastname: Ricca
authors.affiliation: Department of Experimental, Clinical and Biomedical Sciences, Sexual Medicine and Andrology Unit, University of Florence, Florence, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: Maggi
mesh_terms: D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000209:etiology*; D039721:Diagnostic and Statistical Manual of Mental Disorders; D005260:Female; D000068116:Gender Dysphoria / Q000175:diagnosis / Q000209:etiology* / Q000523:psychology; D005783:Gender Identity; D006801:Humans; D007713:Klinefelter Syndrome / Q000150:complications / Q000235:genetics / Q000523:psychology*; D008297:Male; D010262:Paraphilic Disorders / Q000175:diagnosis / Q000209:etiology* / Q000523:psychology; D010641:Phenotype; D012725:Sexual Behavior; D019529:Sexuality; D011795:Surveys and Questionnaires
keywords: Gender Dysphoria; Hypersexuality; Klinefelter Syndrome; Paraphilias