INTRODUCTION:
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.
AIM:
The aim of
this study was to evaluate the presence of (i) paraphilic fantasies and
behaviors; and (ii) GD symptomatology in KS.
METHODS AND MAIN OUTCOMES MEASURES:
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.
By: Fisher AD1, Castellini G1,2, Casale H1, Fanni E1, Bandini E1, Campone B2, Ferruccio N2, Maseroli E1, Boddi V1, Dèttore D3, Pizzocaro A4, Balercia G5, Oppo A6, Ricca V2, Maggi M1.
- 1Department of Experimental, Clinical and Biomedical Sciences, Sexual Medicine and Andrology Unit, University of Florence, Florence, Italy.
- 2Psychiatry Unit, Department of Neurological and Psychiatric Sciences, University of Florence, Florence, Italy.
- 3Department of Health Sciences, University of Florence, Florence, Italy.
- 4Endocrinology Unit, IRCCS, Humanitas Research Hospital, Milan, Italy.
- 5Department of Clinical and Molecular Sciences, Endocrinology, Università Politecnica delle Marche, Ancona, Italy.
- 6U.O.C. dell'Azienda Ospedaliero, Universitaria di Monserrato, Monserrato, Italy.
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