Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome

Stagi, Stefano; Tommaso, Mariarosaria Di; Manoni, Cristina; Scalini, Perla; Chiarelli, Francesco; Verrotti, Alberto; Lapi, Elisabetta; Giglio, Sabrina; Dosa, Laura; Martino, Maurizio de

doi:10.1155/2016/3032759

Cited by 25 publications

(26 citation statements)

References 38 publications

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“…The nine disparate conditions in Table 1 include genetic conditions (Williams syndrome, Turner syndrome, and Klinefelter syndrome), 28,34,45 infectious diseases (sarcoidosis and tuberculosis), 36,40 and other non-infectious diseases (hypothyroidism, primary hyperparathyroidism, lymphoma, and polycystic ovary syndrome [PCOS]). 31,38,42,47 The elevated plasma levels of 1,25(OH) 2 D observed in these nine conditions are caused by a variety of mechanisms.…”

Section: Conditions That Cause Elevated 125(oh) 2 D and Cd Riskmentioning

confidence: 99%

“…54 The elevated levels of 1,25(OH) 2 D observed in primary hyperparathyroidism are due to high levels of parathyroid hormone, which upregulates the conversion of 25 (OH)D to 1,25(OH) 2 D. 47,55 In the case of primary hyperparathyroidism, the high levels of parathyroid hormone are generally caused by an adenoma, a non-cancerous tumor on the parathyroid gland. 56 Likewise, elevated levels of parathyroid hormone are a characteristic of hypothyroidism, 38 Turner syndrome, 57 Klinefelter syndrome, 45 and some cases of PCOS. 42 As parathyroid upregulates conversion to 1,25(OH) 2 D as previously mentioned, 47,55 it seems certain that the elevation of 1,25(OH) 2 D observed in these conditions is at least partly caused by the elevated levels of parathyroid hormone that are common to them.…”

Section: Conditions That Cause Elevated 125(oh) 2 D and Cd Riskmentioning

confidence: 99%

“…In Turner syndrome and Klinefelter syndrome, the hormone replacement therapy that is often provided to patients with these conditions also contributes to elevation in 1,25(OH) 2 D. Specifically, it is considered best medical practice for Turner syndrome patients to receive estrogen and for Klinefelter syndrome patients to receive testosterone, 58,59 and each of these therapies increases plasma levels of 1,25(OH) 2 D. 34,60 For eight of the nine conditions in Table 1, there is evidence in the literature that the condition in question often precedes the development of CD in cases of comorbidity. As Williams syndrome, Turner syndrome, and Klinefelter syndrome are all genetic conditions that are present prior to birth, 28,34,45 and CD cannot be present prior to gluten exposure, 1 it is clear that these three genetic conditions precede the development of CD in cases of comorbidity.…”

Section: Conditions That Cause Elevated 125(oh) 2 D and Cd Riskmentioning

confidence: 99%

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<p>Elevated Levels of 1,25-Dihydroxyvitamin D in Plasma as a Missing Risk Factor for Celiac Disease</p>

Bittker¹

2020

CEG

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The prevalence of celiac disease (CD) has increased significantly in some developed countries in recent decades. Potential risk factors that have been considered in the literature do not appear to provide a convincing explanation for this increase. This has led some researchers to hypothesize that there is a "missing environmental factor" that increases the risk of CD. Based on evidence from the literature, the author proposes that elevation in plasma levels of 1,25-dihydroxyvitamin D [1,25(OH) 2 D] is a missing risk factor for CD, and relatedly that significant oral vitamin D exposure is a "missing environmental factor" for CD. First, elevated plasma levels of 1,25(OH) 2 D are common in CD, especially in the newly diagnosed. Second, nine distinct conditions that increase plasma levels of 1,25(OH) 2 D are either associated with CD or have indications of such an association in the literature. Third, a retrospective study shows that sustained oral vitamin D supplementation in infancy is associated with increased CD risk, and other studies on comorbid conditions support this association. Fourth, large doses of oral vitamin D upregulate many of the same cytokines, chemokines, and toll-like receptors that are upregulated in CD. Fifth, epidemiological evidence, such as the timing of the inception of a CD "epidemic" in Sweden, the increased prevalence of CD in Finland and the United States in recent decades, the unusually low prevalence of CD in Germany, and the differential in prevalence between Finnish Karelians and Russian Karelians, may all be explained by oral vitamin D exposure increasing CD risk. The same is true of some seemingly contradictory results in the literature on the effects of breastfeeding on CD risk. If future research validates this hypothesis, adjustments to oral vitamin D consumption among those who have genetic susceptibility may decrease the risk of CD in these individuals.

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Section: Conditions That Cause Elevated 125(oh) 2 D and Cd Riskmentioning

confidence: 99%

Section: Conditions That Cause Elevated 125(oh) 2 D and Cd Riskmentioning

confidence: 99%

Section: Conditions That Cause Elevated 125(oh) 2 D and Cd Riskmentioning

confidence: 99%

See 1 more Smart Citation

<p>Elevated Levels of 1,25-Dihydroxyvitamin D in Plasma as a Missing Risk Factor for Celiac Disease</p>

Bittker¹

2020

CEG

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“…In pubescent males, a significant association between serum OCN and testosterone levels has been observed (Kirmani, Atkinson, Riggs, Amin, & Khosla, ). Moreover, in patients with Klinefelter syndrome (a male‐specific genetic disorder in which males are born with an extra copy of the X chromosome; KS), reduced testosterone levels are one of the major causes of impaired bone density, marked by a significant reduction in bone formation markers including OCN levels (Stagi et al, ). Interestingly, a high incidence of metabolic disorders has been reported in 70 KS patients compared to aged‐matched controls (50% and 10%, respectively) (Gravholt, Jensen, Host, & Bojesen, ).…”

Section: Endocrine Roles Of Ocn In Humansmentioning

confidence: 99%

Osteocalcin‐dependent regulation of glucose metabolism and fertility: Skeletal implications for the development of insulin resistance

Tangseefa

Martin

Fitter

et al. 2017

Journal Cellular Physiology

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The skeleton has recently emerged as a critical insulin target tissue that regulates whole body glucose metabolism and male reproductive function. While our understanding of these new regulatory axes remains in its infancy, the bone-specific protein, osteocalcin, has been shown to be centrally involved. Undercarboxylated osteocalcin acts as a secretagogue in a feed-forward loop to stimulate pancreatic β-cell proliferation and insulin secretion, improve insulin sensitivity, and promote testosterone production. Importantly, dysregulation of insulin signaling in bone causes a reduction in serum osteocalcin levels that is associated with elevated blood glucose and reduced serum insulin levels, suggesting that the skeleton may play a significant role in the development of diet-induced insulin resistance. Insulin signaling is negatively regulated by the mammalian target of rapamycin complex 1 (mTORC1) which becomes hyper-activated in response to nutrient overload. Loss- and gain-of function models suggest that mTORC1 function in bone is essential for normal skeletal development; however, the role of this complex in the regulation of glucose metabolism remains to be determined. This review highlights our current understanding of the role played by osteocalcin in the skeletal regulation of glucose metabolism and fertility. In particular, it examines data emerging from transgenic mouse models which have revealed a pancreas-bone-testis regulatory axis and discusses recent human studies which seek to corroborate findings from mouse models with clinical observations. Moreover, we review recent studies which suggest dysregulation of insulin signaling in bone leads to the development of insulin resistance and discuss the potential role of mTORC1 signaling in this process.

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“…Данные литературы на это счёт противоречивы. Имеются исследования, не установившие данную ассоциацию, свидетельствующие об отрицательной корреляционной связи между проявлениями этих заболеваний [18], или о положительной корреляции [19]. Возможно, это обусловлено влиянием общего тестостерона на реабсорбцию и экскрецию кальция почками, которая также зависит от пола и возраста пациента [20].…”

Section: таблица 1 средние значения исследуемых лабораторных показатеunclassified

Correlation of Testosterone With Mineral-Bone Exchange Indicators and Metabolic Syndrome in Men

Зыков¹,

Hryachkova²,

Кашталап³

et al. 2018

SMR

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Научно-исследовательский институт комплексных проблем сердечно-сосудистых заболеваний, Кемерово 650002, Российская Федерация 2 Кемеровский государственный медицинский университет, Кемерово 650029, Российская Федерация Цель исследования. Изучение связи тестостерона с различными показателями нарушения минерально-костного обмена и маркёрами метаболического синдрома у пациентов с ИБС мужского пола. Материал и методы. В исследование включено 111 мужчин со стабильной стенокардией II-III функционального класса без клинически значимой сопутствующей патологии и запланированной открытой реваскуляризацией миокарда методом коронарного шунтирования. Помимо общеклинических методов у всех пациентов до операции проводили забор крови натощак. Из полученной плазмы или сыворотки в последующем помимо ряда стандартных биохимических показателей (липидограммы, ионизированного кальция, фосфора, щелочной фосфотазы, гликемии, инсулина) определяли следующие биологические маркёры: общий тестостерон и эстрадиол, кальцитонин, остеокальцин, паратиреоидный гормон (ПТГ), остеопротегерин, остеопонтин и костный изофермент щелочной фосфатазы. Результаты. При анализе вышеописанных биохимических маркёров установлена корреляционная связь между уровнями общего тестостерона с одной стороны и инсулином (r=-0,20; p=0,047), ПТГ (r=0,34; р=0,0002)-с другой. Из всех показателей липидограммы обнаружена достоверная отрицательная связь концентрации общего тестостерона только с уровнем триглицеридов (ТГ): r=-0,19; р=0,047. У пациентов моложе 60 лет и не имеющих ни ожирения, ни сахарного диабета 2 типа корреляционные связи общего тестостерона с инсулином и ТГ значительно возросли: r=-0,38 (р=0,017) и r=-0,33 (p=0,046). При этом в данной подгруппе не выявлено какой-либо связи с другими исследуемыми показателями, а связь с ПТГ стала недостоверной (р=0,29). Однако, при частном корреляционном анализе с последовательным введением поправок на возраст, индекс массы тела, сахарный диабет достоверная связь общего тестостерона с ПТГ сохранилась: коэффициент корреляции (r) составил от 0,30 до 0,29 при р=0,002. Заключение. В настоящем исследовании установлено, что у мужчин с ИБС имеется положительная связь концентрации общего тестостерона с уровнем ПТГ и отрицательная-с инсулином и ТГ. Ключевые слова: ишемическая болезнь сердца, мужчины, тестостерон, минерально-костные нарушения, метаболический синдром, инсулин. Конфликт интересов. Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с публикацией настоящей статьи.

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Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome

Cited by 25 publications

References 38 publications

<p>Elevated Levels of 1,25-Dihydroxyvitamin D in Plasma as a Missing Risk Factor for Celiac Disease</p>

<p>Elevated Levels of 1,25-Dihydroxyvitamin D in Plasma as a Missing Risk Factor for Celiac Disease</p>

Osteocalcin‐dependent regulation of glucose metabolism and fertility: Skeletal implications for the development of insulin resistance

Correlation of Testosterone With Mineral-Bone Exchange Indicators and Metabolic Syndrome in Men

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