ABSTRACT
OBJECTIVES: To examine the effects of early low-dose androgen on motor, cognitive, and behavioral function in prepubertal boys with Klinefelter syndrome (47,XXY). STUDY DESIGN: Double-blind trial of 84 boys, ages 4-12 years, randomized to oxandrolone (Ox; 0.06?mg/kg daily; n?=?43) or placebo (Pl; n?=?41) for 24 months. Standardized assessments were performed at baseline and every 12 months for 24 months evaluating motor, cognitive, and behavioral function. RESULTS: The 24-month outcomes were better in the Ox vs. Pl group on 1 of 5 primary endpoints (motor function/strength): Bruininks Visual-Motor scale (P?=?.005), without significant differences between the 2 groups for the other 4 components. Secondary analyses suggested improvement in the Ox vs. Pl group in the anxiety/depression (P?=?.03) and social problems (P?=?.01) scales on the Child Behavior Checklist, anxiety (P?=?.04) on the Piers Harris Self Concept Scale, and interpersonal problems (P?=?.02) on the Children's Depression Inventory, without significant differences in hyperactive or aggressive behaviors. CONCLUSIONS: This double-blind, randomized trial demonstrates that 24 months of childhood low-dose androgen treatment in boys with Klinefelter syndrome benefited 1 of 5 primary endpoints (visual-motor function). Secondary analyses demonstrated positive effects of androgen on aspects of psychosocial function (anxiety, depression, social problems), without significant effects on cognitive function, or hyperactive or aggressive behaviors. TRIAL REGISTRATION: ClinicalTrials.gov: NCT00348946.
Subject(s)
Androgens/therapeutic use , Child Behavior , Cognition , Klinefelter Syndrome/drug therapy , Muscle Strength , Oxandrolone/therapeutic use , Anxiety/drug therapy , Child , Child, Preschool , Depression/drug therapy , Double-Blind Method , Humans , Interpersonal Relations , Klinefelter Syndrome/psychology , Male , Neuropsychological TestsABSTRACT
OBJECTIVES: To characterize associations among psychosocial well-being, physical phenotype, and sex hormones in a sample of youth with Klinefelter syndrome (KS). We hypothesized that KS physical traits (phenotype) are associated with adverse psychosocial health measures and that testosterone levels are associated with adverse psychosocial health. STUDY DESIGN: Forty-three boys with KS (ages 8-18 years) participated in a cross-sectional study. Participants underwent physical examination, hormone analyses, and psychosocial health questionnaires. RESULTS: Using an investigator-developed Klinefelter Phenotype Index Scale, the number of KS physical traits ranged from 1-13 (mean 5.1 ± 1.9). Pubertal boys presented with more KS traits compared with prepubertal boys (5.6 vs 4.2, P = .01). Boys diagnosed prenatally had a milder phenotype compared with those diagnosed postnatally. Gonadotropins were elevated without androgen deficiency in 45%. Psychosocial health scores indicated adverse quality of life (QOL) (67%), low self-esteem (38%), poor self-concept (26%), and risk for depression (16%) without a difference between pubertal groups. Linear regression showed that 22% of the variance in QOL (P = .0001) was explained by phenotype. Testosterone level was not associated with psychosocial health measures. CONCLUSIONS: Depending on the degree of phenotypic abnormality, boys with KS may be at risk for impaired QOL. Testosterone levels were not shown to influence psychosocial health. The Klinefelter Phenotype Index Scale may be a useful tool to characterize KS features in boys.
Subject(s)
Klinefelter Syndrome/psychology , Quality of Life , Adolescent , Child , Cross-Sectional Studies , Depression/etiology , Gonadotropins/blood , Humans , Klinefelter Syndrome/blood , Learning Disabilities/etiology , Linear Models , Male , Phenotype , Puberty/blood , Self Concept , Severity of Illness Index , Testosterone/bloodABSTRACT
INTRODUCTION: Several studies have shown an association between homicide and sexual chromosomal abnormalities, but data are still lacking regarding Klinefelter syndrome. METHODS: We retrospectively reviewed two cases of homicide perpetrators who were both diagnosed with Klinefelter syndrome on the basis of a karyotype analysis. A neurocognitive assessment was also performed (MMSE, Frontal Assessment Battery, brain CT, and electroencephalogram). RESULTS: Numerous intermediate risk factors of homicide were shared by our two cases, including dispositional (male gender, young age, low socioeconomic status), historical (prior arrest record and past conviction for any offense), contextual (unemployment), and clinical (alcohol abuse). CONCLUSION: It is important that clinicians go beyond obvious risk factors, such as chromosomal abnormalities, to pinpoint other meaningful risk factors and potentially facilitate preventive approaches.
Subject(s)
Criminals/psychology , Homicide/psychology , Klinefelter Syndrome/psychology , Adult , Chromosome Aberrations , Female , Humans , Intelligence Tests , Male , Neuropsychological Tests , Retrospective Studies , Risk Factors , Socioeconomic FactorsABSTRACT
Introduction: Several studies have shown an association between homicide and sexual chromosomal abnormalities, but data are still lacking regarding Klinefelter syndrome. Methods: We retrospectively reviewed two cases of homicide perpetrators who were both diagnosed with Klinefelter syndrome on the basis of a karyotype analysis. A neurocognitive assessment was also performed (MMSE, Frontal Assessment Battery, brain CT, and electroencephalogram). Results: Numerous intermediate risk factors of homicide were shared by our two cases, including dispositional (male gender, young age, low socioeconomic status), historical (prior arrest record and past conviction for any offense), contextual (unemployment), and clinical (alcohol abuse). Conclusion: It is important that clinicians go beyond obvious risk factors, such as chromosomal abnormalities, to pinpoint other meaningful risk factors and potentially facilitate preventive approaches. .