Body composition, metabolic syndrome and type 2 diabetes in Klinefelter syndrome

Gravholt, Claus Højbjerg; Skakkebæk, Anne; Høst, Christian; Bojesen, Anders

doi:10.1111/j.1651-2227.2011.02233.x

Cited by 77 publications

(61 citation statements)

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“…Both of these syndromes are associated with greater adiposity and metabolic disease (39,40). In studies of humans, the direct effects of aneuploidy on metabolic tissues are difficult to dissociate from indirect effects resulting from different levels of gonadal hormones.…”

Section: Discussionmentioning

confidence: 99%

X and Y Chromosome Complement Influence Adiposity and Metabolism in Mice

et al. 2013

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Three different models of MF1 strain mice were studied to measure the effects of gonadal secretions and sex chromosome type and number on body weight and composition, and on related metabolic variables such as glucose homeostasis, feeding, and activity. The 3 genetic models varied sex chromosome complement in different ways, as follows: 1) "four core genotypes" mice, comprising XX and XY gonadal males, and XX and XY gonadal females; 2) the XY* model comprising groups similar to XO, XX, XY, and XXY; and 3) a novel model comprising 6 groups having XO, XX, and XY chromosomes with either testes or ovaries. In gonadally intact mice, gonadal males were heavier than gonadal females, but sex chromosome complement also influenced weight. The male/female difference was abolished by adult gonadectomy, after which mice with 2 sex chromosomes (XX or XY) had greater body weight and percentage of body fat than mice with 1 X chromosome. A second sex chromosome of either type, X or Y, had similar effects, indicating that the 2 sex chromosomes each possess factors that influence body weight and composition in the MF1 genetic background. Sex chromosome complement also influenced metabolic variables such as food intake and glucose tolerance. The results reveal a role for the Y chromosome in metabolism independent of testes and gonadal hormones and point to a small number of X-Y gene pairs with similar coding sequences as candidates for causing these effects.

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Section: Discussionmentioning

confidence: 99%

X and Y Chromosome Complement Influence Adiposity and Metabolism in Mice

et al. 2013

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“…The classical KS phenotype is a tall, slender man with narrow shoulders, long arms and legs, small testes, micropenis, gynecomastia, a lack of pubic hair, infertility, and mild-to-moderate cognitive deficits [3]. However, many patients do not present with the classical symptoms, and men with KS are associated with a broad spectrum of phenotypes, professions, incomes, and socioeconomic statuses [134]. KS in most men remains undetected, and only 25% of those predicted to have KS are diagnosed [5].…”

Section: Introductionmentioning

confidence: 99%

Obesity and Hyperglycemia in Korean Men with Klinefelter Syndrome: The Korean Endocrine Society Registry

Han

Kim

et al. 2016

Endocrinol Metab

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BackgroundThe aim of this study was to investigate the prevalence of obesity in Korean men with Klinefelter syndrome (KS) and the associated risk factors for obesity and hyperglycemia.MethodsData were collected retrospectively from medical records from 11 university hospitals in Korea between 1994 and 2014. Subjects aged ≥18 years with newly diagnosed KS were enrolled. The following parameters were recorded at baseline before treatment: chief complaint, height, weight, fasting glucose level, lipid panel, blood pressure, testosterone, luteinizing hormone, follicle-stimulating hormone, karyotyping patterns, and history of hypertension, diabetes, and dyslipidemia.ResultsData were analyzed from 376 of 544 initially enrolled patients. The rate of the 47 XXY chromosomal pattern was 94.1%. The prevalence of obesity (body mass index ≥25 kg/m2) in Korean men with KS was 42.6%. The testosterone level was an independent risk factor for obesity and hyperglycemia.ConclusionObesity is common in Korean men with KS. Hypogonadism in patients with KS was associated with obesity and hyperglycemia.

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“…Clinically, KS is generally characterized by a reduced testicular volume, azoospermia, and some other features such as tall stature, gynecomastia, increased serum FSH excretion, and androgen deficiency, although its clinical picture exhibits a broader spectrum of phenotypes (2). Moreover, compared with normal males, KS patients have a higher risk to suffer from many other disorders, such as osteoporosis, metabolic syndrome, diabetes, breast cancer, and subtle cognitive deficits (3)(4)(5)(6). There is currently no effective treatment for KS.…”

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confidence: 99%

Aberrant Gene Expression Profiles in Pluripotent Stem Cells Induced from Fibroblasts of a Klinefelter Syndrome Patient

et al. 2012

Journal of Biological Chemistry

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Background: Pathophysiology for Klinefelter syndrome (KS) is poorly explained due to the lack of adequate models. Results: KS-iPSCs exhibit aberrantly expressed genes associated with the clinical features of KS. Conclusion: KS-iPSCs can potentially serve as a cellular model for KS research. Significance: Our study will significantly accelerate the understanding, diagnosis, and treatment of Klinefelter syndrome.

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Body composition, metabolic syndrome and type 2 diabetes in Klinefelter syndrome

Cited by 77 publications

References 50 publications

X and Y Chromosome Complement Influence Adiposity and Metabolism in Mice

X and Y Chromosome Complement Influence Adiposity and Metabolism in Mice

Obesity and Hyperglycemia in Korean Men with Klinefelter Syndrome: The Korean Endocrine Society Registry

Aberrant Gene Expression Profiles in Pluripotent Stem Cells Induced from Fibroblasts of a Klinefelter Syndrome Patient

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