Abstract

PurposeWe aimed to verify if 1 year-testosterone-replacement therapy could produce a psychopathological recovery and a satisfactory quality of life in Klinefelter syndrome (KS) patients compared to matched healthy controls. Further, we analyzed personality traits and coping strategies, an issue not yet examined in androgen-treated KS patients. We also enquired whether any of the sociodemographic and psychological variables might predict a patient’s general and sexual life satisfaction.MethodsThe Quality of Life Enjoyment and Satisfaction Questionnaire and the Temperament and Character Inventory-Revised were administered to both 23 KS patients and matched healthy subjects. Psychopathology was investigated by the Symptom Checklist-90-Revised (SCL-90-R) and the Mini-mental State Examination. The COPE Inventory was used to identify cognitive and behavioral strategies to manage disease-related distress.ResultsIn testosterone-treated KS patients, when compared with controls, SCL-90-R subscales analysis evidenced high psychological distress, mainly presented as obsessive thoughts, hanger-hostility, phobias, and psychoticism. Self-directedness and self-transcendence, along with the prevalent use of emotion-focused coping strategies, outlined the personality of our KS patients. Depression and somatization proved to be predictors of general life dissatisfaction. Depression, anger-hostility, and paranoid ideation, instead, emerged as predictors of sexual life dissatisfaction.ConclusionEndocrinologists should cooperate with mental health providers to foster a better outcome of the disease in KS patients.

Highlights

  • Klinefelter syndrome (KS) is one of the most common sex chromosomal abnormalities and is characterized by hypergonadotropic hypogonadism (HH) and infertility [1, 2].Low testosterone levels can affect physical, social, emotional, cognitive, and sexual functioning, key domains that contribute to health-related quality of life (QoL) in hypogonadal KS men [3,4,5,6,7].cognitive and language deficits due to genetic factors may influence QoL and lead to adaptation and behavioral problems during adolescence [7].The neuropsychological phenotype in adults affected by KS varies considerably

  • When compared to healthy controls, KS patients showed a lower concentration of total plasma testosterone (p < 0.001)

  • The present study is the first to report that KS patients, treated for one year with testosterone undecanoate, do not yield a QoL compared to matched healthy controls

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Summary

Introduction

Klinefelter syndrome (KS) is one of the most common sex chromosomal abnormalities and is characterized by hypergonadotropic hypogonadism (HH) and infertility [1, 2].Low testosterone levels can affect physical, social, emotional, cognitive, and sexual functioning, key domains that contribute to health-related quality of life (QoL) in hypogonadal KS men [3,4,5,6,7].cognitive and language deficits due to genetic factors may influence QoL and lead to adaptation and behavioral problems during adolescence [7].The neuropsychological phenotype in adults affected by KS varies considerably. Low testosterone levels can affect physical, social, emotional, cognitive, and sexual functioning, key domains that contribute to health-related quality of life (QoL) in hypogonadal KS men [3,4,5,6,7]. Cognitive and language deficits due to genetic factors may influence QoL and lead to adaptation and behavioral problems during adolescence [7]. The neuropsychological phenotype in adults affected by KS varies considerably. Journal of Endocrinological Investigation (2021) 44:1053–1063 high incidence of dyslexia, and social dysfunctions are among the most reported behavioral phenotypes, which may worsen the perceived stigma associated with the disease and complications. Perceived stigma may induce KS patients to adopt coping strategies, through which they become capable of addressing and managing the genetic disease [8]

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