Fisher Alessandra D, Castellini Giovanni, Casale Helen, Fanni Egidia, Bandini Elisa, Campone Beatrice, Ferruccio Naika, Maseroli Elisa, Boddi Valentina, Dèttore Davide, Pizzocaro Alessandro, Balercia Giancarlo, Oppo Alessandro, Ricca Valdo, Maggi Mario
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.
J Sex Med. 2015 Dec;12(12):2413-24. doi: 10.1111/jsm.13048. Epub 2015 Nov 27.
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.
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.
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).
KS is associated with hypersexuality, paraphilic behaviors, and GD, which were mediated by obsessive-compulsive and autistic traits.
已有报道称克兰费尔特综合征（KS）患者出现自闭特质的风险增加。此外，一些研究表明，自闭症谱系障碍患者中性别焦虑症（GD）和性偏好障碍的发病率有所上升。
本研究的目的是评估KS患者中（i）性偏好幻想和行为；以及（ii）GD症状的存在情况。
对46名KS患者和43名健康男性对照（HC）进行了评估。通过多种心理测量测试对受试者进行研究，如自闭症谱系商数（AQ）和修订版的“解读眼神中的心思”（RME）以测量自闭特质、性别认同/GD问卷（GIDYQ-AA）和性成瘾筛查测试（SAST）。此外，使用症状自评量表修订版（SCL-90-R）评估身体不适的精神病理症状。根据《精神障碍诊断与统计手册》第5版标准，通过临床访谈评估任何性偏好幻想和行为的存在及频率。最后，对所有纳入的个体进行韦氏成人智力量表修订版评估以评估智商（IQ）。还考虑了先前发表的一系列男性至女性GD个体的子样本数据，以及有助于对KS人群中的GD提供精神病理学解释的一系列心理测量数据。
与HC相比，KS患者的总智商、言语智商和操作智商得分显著更低，SCL-90强迫症状得分更高（所有P<0.001）。与先前报道的结果一致，根据RME和AQ测试，KS患者表现出更高的自闭特质（P<0.001）。在性方面，KS患者在自慰期间出现窥阴癖幻想的频率显著更高（52.2%对25.6%），SAST得分也更高（P=0.012）。证实了强迫症状在克兰费尔特综合征与SAST之间的关系中起中介作用（非标准化估计b=2.75，标准误=0.43，P<0.001）。最后，KS患者的性别焦虑症状显著高于HC（P=0.004），这由自闭特质介导（索贝尔检验；P<0.05）。
KS与性欲亢进、性偏好行为和GD有关，这些由强迫和自闭特质介导。
