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Endocrine Abstracts (2014) 34 MTE3 | DOI: 10.1530/endoabs.34.MTE3
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1Institute for Genetic Medicine, Newcastle University, Newcastle-Upon-Tyne, UK; 2Endocrine Unit, Newcastle-Upon-Tyne Hospitals NHS Foundation Trust, Newcastle-Upon-Tyne, UK.


Klinefelter syndrome (KS) is defined by at least one extra X chromosome in the male karyotope. The phenotype is highly-variable, but a degree of progressive testicular dysfunction is universal. 47XXY is the most common sex chromosome aneuploidy in humans and, together with much rarer forms (e.g. 48XXY and 48XYY) occurs in 0.1–0.2% live male births. However the prevalence of diagnosed KS among adult males in the UK and elsewhere is much lower, indicating only around 25% of cases being identified. This isn’t just a matter of poor diagnostics and awareness, but reflects the paucity of clinical signs and symptoms among the ‘silent majority’ of KS men.

Patient management falls into five broad categories, comprising i) post-diagnostic psychological support/counselling, ii) fertility options, iii) androgen replacement (ART), both in respect of maintenance therapy and optimal timing for its initiation, iv) gynaecomastia-surgery and v) long-term management of other disease risks, principally obesity/T2DM, but also including cancer (testes, breast, NHL, possibly lung), aortic valve and thromboembolic disease. These issues may overlap and their sequence will depend upon patient characteristics, stage of life and social considerations.

Contrary to the belief systems of many, ART is neither a common cause for ‘excursions’ in mental health status, nor a ‘cure all’. Nevertheless, it is incumbent upon Endocrinologists to manage it efficiently and well, with maintenance of physiological haematocrit and bone density being key outcome measures. Depending on Iocal Andrologist practice, it might be best to defer ART microTESE is being actively planned.

In the UK, axis to psychological support requires close liaison with primary care, but it is important to remember the common themes expressed by patients and those close to them, namely: social isolation, lack of self-worth, and depression (including all five phases of the grief response, but perhaps with particular issues of anger-management).

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