Bone mineral density in Klinefelter syndrome is reduced and primarily determined by muscle strength and resorptive markers, but not directly by testosterone

Bojesen, Anders; Birkebæk, Niels H; Kristensen, Kurt; Heickendorff, Lene; Mosekilde, Leif; Js, Christiansen; Gravholt, Claus Højbjerg

doi:10.1007/s00198-010-1354-7

Cited by 78 publications

(80 citation statements)

References 42 publications

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“…Accordingly, adults with XXYoften present with decreased bone mineral density (BMD) [Horowitz et al, 1992;Bojesen et al, 2010;Aksglaede et al, 2011b;Ferlin et al, 2011b] In contrast to the studies on adults with XXY, normal lumbar BMD, and whole body bone mineral content (BMC) as evaluated by whole body DEXA scan in 24 boys and adolescents with XXY (4.3-18.6 years of age) has been shown, indicating that the risk of osteopenia/osteoporosis may not be present until after puberty [Aksglaede et al, 2008a].…”

Section: Bone Mineralizationmentioning

confidence: 99%

47,XXY Klinefelter syndrome: Clinical characteristics and age‐specific recommendations for medical management

Aksglæde

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Giwercman

et al. 2013

American J of Med Genetics Pt C

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47,XXY (Klinefelter syndrome) is the most frequent sex chromosomal disorder and affects approximately one in 660 newborn boys. The syndrome is characterized by varying degrees of cognitive, social, behavioral, and learning difficulties and in adulthood additionally primary testicular failure with small testes, hypergonadotropic hypogonadism, tall stature, and eunuchoid body proportions. The phenotype is variable ranging from "near-normal" to a significantly affected individual. In addition, newborns with Klinefelter syndrome generally present with a normal male phenotype and the only consistent clinical finding in KS is small testes, that are most often not identified until after puberty. Decreased awareness of this syndrome among health professionals and a general perception that all patients with 47,XXY exhibit the classic textbook phenotype results in a highly under-diagnosed condition with up to 75% of the patients left undetected. Typically, diagnosis is delayed with the majority of patients identified during fertility workup in adulthood, and only 10% of patients diagnosed prior to puberty. Early detection of this syndrome is recommended in order to offer treatment and intervention at the appropriate ages and stages of development for the purpose of preventing osteopenia/osteoporosis, metabolic syndrome, and other medical conditions related to hypogonadism and to the XXY as well as minimizing potential learning and psychosocial problems. The aim of this review is to present the clinical aspects of XXY and the age-specific recommendations for medical management. © 2013 Wiley Periodicals, Inc.

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Section: Bone Mineralizationmentioning

confidence: 99%

47,XXY Klinefelter syndrome: Clinical characteristics and age‐specific recommendations for medical management

Aksglæde

Link

Giwercman

et al. 2013

American J of Med Genetics Pt C

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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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“…In none of the studies performed till now, a difference on cognitive performance between testosterone-treated and untreated adolescents with KS could be observed (38,40,41). Furthermore, Aksglaede et al (42) and Bojesen et al (43) described that testosterone treatment could only partially correct the unfavorable muscle:fat ratio in adolescents with KS. An unfavorable body composition, an increased leg length, and a poor muscle development as well as signs of the metabolic syndrome have been observed before puberty and might thus be inherent to the KS genotype and, therefore, not an indication for early 'preventive' testosterone therapy (42,44).…”

Section: Testosterone Supplementation In Adolescence "mentioning

confidence: 95%

“…Testosterone supplementation in adulthood " Not surprisingly, testosterone supplementation in young adult men with serum testosterone level in the lower half of the normal range did not result in significant changes in bone mineralization, body composition, or quality of life (43,45,46). No increase in quality of life was observed in testosterone-treated men with KS having normal testosterone values (47).…”

Section: Testosterone Supplementation In Adolescence "mentioning

confidence: 95%

TRANSITION IN ENDOCRINOLOGY: Management of Klinefelter syndrome during transition

Gies

Unuane

Velkeniers

et al. 2014

European Journal of Endocrinology

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Klinefelter syndrome (KS) is the most common sex chromosomal disorder in males. Key findings in older adolescents and young men are small testes with variable hypo-androgenism, but almost universal azoospermia, most frequently in combination with a history of learning difficulties and behavior problems. Males with KS may come to medical attention through different medical presentations, given its association with several congenital malformations, and psychiatric, endocrine, and metabolic disorders. Preventive care is to be provided from diagnosis, preferentially through a multidisciplinary approach, including that from an endocrinologist, clinical psychologist or psychiatrist, neurologist, urologist, geneticist, sexologist, and a fertility team. Accurate information about the condition and assessment of associated medical conditions should be offered at diagnosis and should be followed by psychological counseling. Medical treatment during transition into adulthood is focused on fertility preservation and testosterone replacement therapy in the case of hypo-androgenism, and alleviation of current or future consequences of testicular fibrosis. However, more research is needed to determine the need for pro-active testosterone treatment in adolescence, as well as the conditions for an optimal testosterone replacement and sperm retrieval in adolescents and young men with KS. Furthermore, screening for associated diseases such as metabolic syndrome, autoimmune diseases, thyroid dysfunction, and malignancies is warranted during this period of life. The practical medical management during transition and, more specifically, the role of the endocrinologist are discussed in this article.

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Bone mineral density in Klinefelter syndrome is reduced and primarily determined by muscle strength and resorptive markers, but not directly by testosterone

Cited by 78 publications

References 42 publications

47,XXY Klinefelter syndrome: Clinical characteristics and age‐specific recommendations for medical management

47,XXY Klinefelter syndrome: Clinical characteristics and age‐specific recommendations for medical management

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

TRANSITION IN ENDOCRINOLOGY: Management of Klinefelter syndrome during transition

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