Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2018) 56 S9.2 | DOI: 10.1530/endoabs.56.S9.2

Centre of Reproductive Medicine & Andrology, University of Münster, 48149 Münster, Germany.


Klinefelter syndrome (KS) is usually perceived as a disorder causing infertility and androgen deficiency and indeed, KS is the most frequent form of hypogonadism with 1 – 2 cases per 1,000 males and with a 47,XXY karyotype, the most frequent male chromosome disorder. Yet the incidence of the syndrome is probably significantly higher than the diagnosed casas suggest. Although subtle symptoms may be already evident in childhood and puberty, androgen deficiency usually only becomes evident in early adulthood. The manifold comorbidities of the KS should provide clues to the underlying genetic disorder. In the young patient neurological and psychological deficits may become evident e.g. in verbalization and attention, with learning difficulties resulting in professional and socio-economic underachievement. At a later age metabolic disturbances may occur (metabolic syndrome, diabetes type 2, venous thromboembolism, cardiovascular diseases, osteoporosis and fractures, autoimmune diseases, mediastinal tumors and mammary carcinoma). Doctors and hospitals consulted for these comorbidities often fail to recognize the underlying condition. However, the most prominent somatic feature of KS, the very small testes, are not investigated routinely so that this clue to the karyotype as the decisive diagnostic procedure remains overlooked. Although testosterone substitution is usually prescribed when testosterone serum levels become subnormal, optimal modalities and onset of treatment have not been explored by controlled trials. Similarly, although paternity has become possible by TESE and ICSI, the optimal time for testicular biopsy and the possible benefit of any pretreatment remain unclear. Although psychological support has beneficial effects especially in the transition phase, it is only provided in selected centers. Further elucidation of the genetic basis underlying the wide phenotypical heterogeneity in KS should provide new diagnostic and therapeutic approaches, e.g. paternal or maternal origin of the supernumerary X-chromosome, undetected mosaicism, extent of X-chromosome inactivation and polymorphism of the androgen receptor. To coordinate these approaches and to initiate the required research remains a challenge to the endocrinologists.

Volume 56

20th European Congress of Endocrinology

Barcelona, Spain
19 May 2018 - 22 May 2018

European Society of Endocrinology 

Browse other volumes

Article tools

My recent searches

No recent searches.

My recently viewed abstracts

Authors