Morbidity and mortality in Klinefelter syndrome (47,XXY)

Bojesen, Anders; Gravholt, Claus Højbjerg

doi:10.1111/j.1651-2227.2011.02274.x

Cited by 87 publications

(90 citation statements)

References 39 publications

(47 reference statements)

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“…O HC-UNICAMP atende a população de uma região com mais de 5 milhões de habitantes, e para esse volume de atendimento deveríamos ter registrado muito mais que 33 diagnósticos de SK em 23 anos (cerca de três casos diagnosticados a cada 2 anos), indicando que ou os pacientes procuram pouco o serviço médico, ou os médicos pensam pouco nesse diagnóstico. Apesar de aparentemente pequena, a casuística do presente estudo é parecida com a maioria dos estudos recentes 1,3,8,14 , onde a maior foi de 98 casos 10 Todos os indivíduos avaliados abaixo dos 10 anos de idade foram encaminhados por deficiência intelectual e/ou atraso do desenvolvimento neuromotor. Déficits cognitivos específicos na linguagem e na função executiva são parte do fenótipo da SK 15 .…”

Section: Discussionunclassified

“…Os achados clínicos principais, presentes em quase todos os indivíduos com SK, são os testículos pequenos, a azoospermia e o aumento das gonadotrofinas, em especial do follicle stimulating hormone (FSH); porém, outros achados, como ginecomastia, atraso puberal, pilificação pubiana e corporal diminuídas, micropênis, alta estatura, aumento da envergadura em relação à estatura, distúrbios de aprendizado, doenças psiquiátricas, doença venosa periférica, obesidade abdominal, síndrome metabólica, maior risco de doenças autoimunes e câncer, podem ser observados com diferentes frequências de acordo com a população avaliada, a faixa etária incluída e o cariótipo encontrado 1,[3][4][5][6][7][8][9][10] .…”

Section: Introductionunclassified

“…Apesar de descrita pela primeira vez há 70 anos 11 , a SK continua sendo uma doença pouco diagnosticada, pois os pacientes procuram pouco os médicos, e os médicos nem sempre estão atentos ao diagnóstico 8 . Por isso, apenas cerca de 25% de todos os pacientes adultos com SK são diagnosticados; a maioria durante a investigação de infertilidade e/ou hipogonadismo; e menos de 10% de todos os casos com SK são diagnosticados antes da puberdade 1,12 .…”

Section: Introductionunclassified

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Klinefelter syndrome: an unusual diagnosis in pediatric patients

Tincani¹,

Mascagni²,

Pinto³

et al. 2012

J Pediatr (Rio J)

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Objective: To identify clinical and laboratory data which differentiate Klinefelter syndrome (KS) patients according to age group. Methods:The study included all cases of hypogonadism, gynecomastia and/or infertility whose karyotype was performed at a university hospital from January 1989 to December 2011, in a total of 105 subjects. The following data were retrospectively analyzed: age at first visit, ratio of arm span to height, pubic hair, gynecomastia, testicular volume, luteinizing hormone (LH), follicle stimulating hormone (FSH), total testosterone (T), and spermiogram.Results: During the study period, 33 patients were diagnosed with Klinefelter syndrome (KS+) and 72 were not (KS-). Out of all KS cases, only seven (21.2%) were diagnosed before 20 years old and two (6.1%) before 10 years old. Age at first consultation (in years) was similar in both groups (KS+ = 31.3±12.9 and KS-= 27.6±12.1), as were ratio of arm span to height and frequency of gynecomastia. However, in KS+ patients, pubic hair was less developed, testicular volume was smaller and testosterone levels were lower, while LH and FSH levels and frequency of azoospermia were higher. Conclusions:Klinefelter syndrome is both an under and late diagnosed condition. The most important data for diagnosis are testicular volume, hormone levels and presence of azoospermia in spermiogram, especially in puberty and adult life. J Pediatr (Rio J). 2012;88(4):323-7:Klinefelter syndrome, male infertility, delayed puberty, gynecomastia. ResumoObjetivo: Identificar dados clínicos e laboratoriais que diferenciam os casos com síndrome de Klinefelter de acordo com a faixa etária. Casuística e métodos:Foram incluídos todos os casos de hipogonadismo, ginecomastia e/ou infertilidade avaliados em hospital universitário cujo cariótipo foi realizado entre janeiro de 1989 e dezembro de 2011, totalizando 105 pacientes. Foram avaliados: idade na primeira consulta, relação entre envergadura e altura, pilificação pubiana, ginecomastia, tamanho testicular, hormônio luteinizante (LH), hormônio folículo-estimulante (FSH), testosterona e espermograma. Resultados:Foram diagnosticados três casos com síndrome de Klinefelter (SK+) e 72 sem a síndrome (SK-). Dos casos com síndrome de Klinefelter, apenas sete (21,2%) foram diagnosticados antes dos 20 anos e dois (6,1%) antes dos 10 anos de idade. A idade na primeira consulta (em anos) foi semelhante nos dois grupos (SK+ = 31,3±12,9 e SK-= 27,6±12,1), o mesmo ocorrendo com a relação entre envergadura e altura e a presença de ginecomastia. No entanto, a pilificação pubiana foi menor no grupo SK+, o mesmo ocorrendo com a média do volume bitesticular e a testosterona, enquanto que o LH e o FSH foram mais elevados neste grupo, o mesmo ocorrendo com a frequência de azoospermia.Conclusões: A síndrome de Klinefelter ainda é pouco e tardiamente diagnosticada em nosso meio, sendo os dados de tamanho testicular, LH, FSH, testosterona e presença de azoospermia no espermograma os mais importantes para o seu diagnóstico, principalmente na pub...

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Section: Discussionunclassified

Section: Introductionunclassified

See 1 more Smart Citation

Klinefelter syndrome: an unusual diagnosis in pediatric patients

Tincani¹,

Mascagni²,

Pinto³

et al. 2012

J Pediatr (Rio J)

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“…Recently, an experimental study demonstrated that the numbers of X chromosomes inluences protection from cardiac ischemia, because mice with two X chromosomes were more vulnerable to myocardial infarction when compared to mice with one X and one Y chromosome [82]. Klinefelter syndrome (47 XXY), the most common abnormality of sex chromosomes in males due to the presence of an extra X chromosome, is associated with increased cardiovascular risk and mortality [83,84]. Turner syndrome (45X) in females, or monosomy X (XO), is a common chromosomal disorder that is due to partial or complete loss of one of the X chromosomes.…”

Section: Potential Inluence Of Sex Chromosomes On Aaa Developmentmentioning

confidence: 99%

Sexual Dimorphism of Abdominal Aortic Aneurysms

Alsiraj¹,

Thatcher²,

Cassis³

2017

Aortic Aneurysm

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Sex is the largest nonmodiiable risk factor for the development of abdominal aortic aneurysms (AAAs) in humans and experimental models. Data from several studies consistently demonstrate a higher AAA prevalence in males than in females, contributing to divergent recommendations for AAA screening in men and women. Despite a higher AAA prevalence in males, females have more rapid rates of aneurysm dilation, and aneurysms rupture at smaller sizes. Unfortunately, no therapies have been efective to retard aneurysm dilation in either sex. Results from experimental AAA models indicate a protective role for estrogen in AAA development and progression, while male testosterone has been demonstrated to markedly promote angiotensin II (AngII)-induced AAAs. Potential mechanisms implicated in sex hormone regulation of AAAs include regulation of inlammation, matrix metalloproteinases, aromatase activity, oxidative stress, stem cells, and transforming growth factor-beta. In addition to sex hormones, sex chromosomes have been implicated in diseases of the aorta. Turner's syndrome (monosomy X) patients have a high incidence of thoracic aortic rupture. Recent studies indicate a novel approach to deine the relative role of sex hormones versus sex chromosomes in experimental AAAs. Further studies are warranted to determine interactions between sex hormones and sex chromosomes in AAA development and progression.

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“…The clinical features of KS commonly include hypergonadotropic hypogonadism, gynecomastia, small testes, and azoospermia (2), but this syndrome might also be associated with an increased risk of systemic diseases including malignancies, osteoporosis (3), venous thromboembolism (4), diabetes, obesity, insulin resistance, metabolic syndrome, and cardiovascular diseases (5,6,7,8).…”

Section: Introductionmentioning

confidence: 99%

Prostate volume and growth during testosterone replacement therapy is related to visceral obesity in Klinefelter syndrome

Selice

Caretta

Mambro

et al. 2013

European Journal of Endocrinology

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Objective: Klinefelter syndrome (KS) is a chromosomal alteration characterized by increased risk of metabolic syndrome, mainly caused by visceral obesity. In the last years, obesity has been studied as a potential risk factor for prostate disease and recently a link has been demonstrated between visceral adiposity with prostate volume. The aim of this study was to analyze the relationship between obesity and prostate volume and growth during testosterone therapy in KS subjects. Design and methods: We evaluated reproductive hormones, metabolic parameters, anthropometric measures, PSA, and prostate volume in 121 naïve non-mosaic KS patients and 60 age-matched healthy male controls. Fifty-six KS hypogonadic subjects were treated with testosterone-gel 2% and reevaluated after 18 months of treatment. Results: Prostate volume in KS was positively related to waist circumference (WC). The KS group with WC R94 cm had significantly higher prostate volume, BMI, insulin plasma levels, homeostasis model assessment index, total cholesterol, triglycerides, and glycemia with respect to the KS group with WC !94 cm. After testosterone replacement therapy, only hypogonadic KS men with WC R94 cm had a statistically significant increase in prostate volume. Furthermore, in untreated KS subjects, prostate volume showed a statistically significant increase after 18 months of follow-up only in subjects with WC R94 cm. Conclusions: This study showed that visceral obesity, insulin resistance, and lipid and glucose metabolism alterations are associated with prostate volume and growth during testosterone replacement therapy in KS, independently from androgen or estrogen levels. These latter findings might provide the basis for a better management and follow-up of KS subjects.

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Morbidity and mortality in Klinefelter syndrome (47,XXY)

Abstract: Both morbidity and mortality are significantly increased in Klinefelter syndrome with a 50% increase in mortality risk and a 70% increase in risk of being admitted to hospital.

Cited by 87 publications

References 39 publications

Klinefelter syndrome: an unusual diagnosis in pediatric patients

Klinefelter syndrome: an unusual diagnosis in pediatric patients

Sexual Dimorphism of Abdominal Aortic Aneurysms

Prostate volume and growth during testosterone replacement therapy is related to visceral obesity in Klinefelter syndrome

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