Klinefelter's syndrome (KS) is the most common chromosomal abnormality in men with infertility and hypogonadism. Although its influence on fertility has been extensively investigated, very few studies assessed the sexual function of patients with KS. Our aim was to assess the prevalence of sexual dysfunction in patients with KS and investigate possible aetiological factors for reported findings. Medical records of 53 patients with KS were retrospectively reviewed and compared to 75 age-matched control subjects who were prospectively recruited. Sexual history was evaluated through utilisation of international index of erectile function-5 and Arabic index for premature ejaculation questionnaires. Sexual desire was reported subjectively by patients or controls. The incidence of erectile dysfunction and premature ejaculation in patients with KS was 18.9% and 22.6% respectively. Compared to age-matched controls, patients with KS had significantly lower incidence of PE. However, there was no statistically significant difference between both groups regarding erectile function. Libido was significantly lower in patients with KS than normal controls (54.7% vs. 17.3%, p = 0.001). Klinefelter's syndrome is a condition that has a variable presentation. Despite having a higher likelihood of reduced sexual desire, patients may have normal erectile function comparable to age-matched individuals. They tend to have a lower incidence of premature ejaculation.
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http://dx.doi.org/10.1111/and.12670 | DOI Listing |
ACR Open Rheumatol
January 2025
Sidney Kimmel Medical College at Thomas Jefferson University and Jefferson Einstein Hospital, Philadelphia, Pennsylvania.
Objective: Systemic lupus erythematosus (SLE) and Sjögren disease (SjD) are autoimmune diseases with significant female predominance. The prevalence of SLE is increased in Klinefelter syndrome (KS) compared with the general male population. Our study investigates the dose effects of extra X chromosomes on the development of SLE and SjD in KS and triple X syndrome compared with the general population.
View Article and Find Full Text PDFBackground: An estimated 17% of all couples worldwide are involuntarily childless (infertile). The clinically identifiable causes of infertility can be found in the male or female partner or in both. The molecular pathophysiology of infertility still remains unclear in many cases but is increasingly being revealed by genetic analyses.
View Article and Find Full Text PDFJ Dev Behav Pediatr
January 2025
eXtraordinarY Kids Clinic and Research Program, Children's Hospital Colorado, Aurora, CO.
Objective: To compare the prevalence of neurodevelopmental and mental health diagnoses in a national sample of youth with sex chromosome trisomies (SCTs) with matched controls.
Methods: Patients in PEDSnet and a diagnosis code mapping to 47,XXY/Klinefelter syndrome (n = 1171), 47,XYY/Double Y syndrome (n = 243), or 47,XXX/Trisomy X syndrome (n = 262) were matched with controls using propensity scores. Generalized estimating equations computed odds ratios (OR) with 95% confidence intervals (CI) for the prevalence of diagnoses within the neurodevelopmental and mental health composites, psychotropic medication prescriptions, and encounters with behavioral health and therapy providers.
J Dev Behav Pediatr
January 2025
Department of Psychiatry and Behavioral Sciences, Center for Interdisciplinary Brain Sciences Research, Stanford University, Stanford, CA.
Objective: Klinefelter syndrome (KS) is a common genetic condition in males associated with an extra X chromosome (i.e., 47,XXY).
View Article and Find Full Text PDFFront Child Adolesc Psychiatry
November 2024
Faculty of Human Sciences, Sophia University, Chiyoda-ku, Tokyo, Japan.
Introduction: The (EMB) theory, a major causal hypothesis of autism (ASD: autism spectrum disorder), attributes excess androgens during early development as one of the causes. While studies have generally followed the EMB theory in females at birth, the co-occurrence of ASD in males at birth has been observed in conditions that are assumed to be associated with reduced androgen action during early development, including Klinefelter syndrome (KS) and sexual minorities. ASD is also associated with atypical sensory sensitivity, synesthesia, and savant syndrome.
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