Consensus statement on diagnosis and clinical management of Klinefelter syndrome

@article{Radicioni2010ConsensusSO,
  title={Consensus statement on diagnosis and clinical management of Klinefelter syndrome},
  author={A F Radicioni and Alberto Ferlin and Giancarlo Balercia and D. Pasquali and Linda Vignozzi and Mario Maggi and Carlo Foresta and Andrea Lenzi},
  journal={Journal of Endocrinological Investigation},
  year={2010},
  volume={33},
  pages={839-850}
}
Nearly 70 years after its description, Klinefelter syndrome (KS) remains a largely undiagnosed condition. As its clinical presentation may be subtle, many of those affected may be unaware or diagnosed only during evaluation for hypogonadism and/or infertility. In February 2010 an interdisciplinary panel of specialists met in Abano Terme (Padua, Italy) in a workshop on “Klinefelter Syndrome: diagnosis and clinical management”. The main aim of this meeting was to discuss several aspects related… 
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TLDR
Clinical and laboratory data which differentiate Klinefelter syndrome patients according to age group are identified, finding the most important data for diagnosis are testicular volume, hormone levels and presence of azoospermia in spermiogram, especially in puberty and adult life.
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TLDR
Clinical and laboratory data which differentiate Klinefelter syndrome patients according to age group are identified, especially in puberty and adult life, and the most important data for diagnosis are testicular volume, hormone levels and presence of azoospermia in spermiogram.
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TLDR
It is shown that KS is under-diagnosed since only roughly 25% of patients are diagnosed and the mean age of diagnosis is during adult life, and advocated for a multidisciplinary setup with the inclusion of pediatricians, speech therapists, general practitioners, psychologists, infertility specialists, urologists and endocrinologists.
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TLDR
Patients diagnosed with the ICD-9 code for Klinefelter syndrome diagnosed prior to age 20 years had a 47,XXY karyotype, and the most common comorbidities were neurocognitive, including learning disabilities, psychosocial problems, and attention deficit disorder.
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TLDR
Data on the history, etiology of the syndrome, clinical and laboratory features characteristic of children, adolescents, and adults, and the effect of testosterone replacement therapy on these conditions are provided are provided.
Klinefelter syndrome: more than hypogonadism.
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Klinefelter syndrome patients have also an increased probability of endocrine and/or metabolic disease, especially obesity, metabolic syndrome and type 2 diabetes mellitus, and the effects of TRT on these abnormalities are not entirely clear.
[Craniopharyngioma and Klinefelter syndrome during the pubertal transition: A diagnostic challenge].
TLDR
Failure of exogenous gonadotropin therapy revealed the hidden association of primary and secondary hypogonadism, demonstrating the importance of the followup and a multidisciplinary approach in these patients.
Testicular parenchymal abnormalities in Klinefelter syndrome: a question of cancer? Examination of 40 consecutive patients
TLDR
Testicular US, tumor markers and MR were, in selected cases, useful tools for correctly discriminating benign from malignant lesions and no statistical differences were found.
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References

SHOWING 1-10 OF 161 REFERENCES
Clinical and diagnostic features of patients with suspected Klinefelter syndrome.
TLDR
The combination of low testicular volume and azoospermia, together with elevated gonadotropins, is highly indicative for a Klinefelter syndrome and should stimulate further clinical investigations.
New concepts in Klinefelter syndrome
TLDR
This review is aimed to provide the practicing urologist with an important source of clinically relevant information about Klinefelter syndrome, the most common chromosomal aberration among men, with estimated frequency of 1: 500 among newborns.
Comparison of Adolescents with Klinefelter Syndrome according to the Circumstances of Diagnosis: Amniocentesis versus Clinical Signs
TLDR
The phenotype of adolescents with Klinefelter syndrome diagnosed by amniocentesis or postnatally or on the basis of symptoms to the general population is compared with a view to evidence-based genetic counselling and provides the groundwork for cautious optimism in prenatal counselling.
Mortality in patients with Klinefelter syndrome in Britain: a cohort study.
TLDR
Patients diagnosed with Klinefelter syndrome have raised mortality from several specific causes, which may reflect hormonal and genetic mechanisms.
Kilnefelter Syndrome and Its Variants: An Update and Review for the Primary Pediatrician
TLDR
The current state of knowledge regarding Klinefelter syndrome and its variants is reviewed, with an emphasis on medical and early developmental interventions.
Diagnosis and management of the adolescent boy with Klinefelter syndrome.
TLDR
Most boys with Klinefelter syndrome do not differ vastly from their peers, however, several manifestations of the syndrome should be monitored during adolescence and require the primary care physician's attention.
Klinefelter syndrome in clinical practice
TLDR
Patients with Klinefelter syndrome should be treated with lifelong testosterone supplementation that begins at puberty, to secure proper masculine development of sexual characteristics, muscle bulk and bone structure, and to prevent the long-term deleterious consequences of hypogonadism.
Klinefelter syndrome.
TLDR
Treatment consists of testosterone replacement therapy to correct the androgen deficiency and to provide patients with appropriate virilization and positive effects on mood and self-esteem and has been shown to protect against osteoporosis, although it will not reverse infertility.
Increased mortality in Klinefelter syndrome.
TLDR
It is found that Klinefelter syndrome was associated with a significant increase in mortality risk of 40%, corresponding to a significantly reduced median survival of 2.1 yr, mainly due to increased mortality from infectious, neurological, circulatory, pulmonary, and urinary tract diseases.
Klinefelter syndrome: Expanding the phenotype and identifying new research directions
TLDR
New data on etiology and clinical features of Klinefelter syndrome is summarized in order to derive research priorities and Behavioral and expressive language difficulties are amenable to treatment by androgen therapy and psychological help.
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