Klinefelter syndrome in children and adolescents (review)

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Abstract

Klinefelter syndrome is the most common sex chromosomal abnormality and the most frequent form of primary male hypogonadism. The presence of additional X-chromosome in karyotype leads to such most frequent manifestations as infertility, azoospermia, small testicular volume, high levels of gonadotropins and low testosterone level, tall stature with disproportional body shape, learning difficulties and speech-language disorders. Despite the high incidence of the syndrome, only 25% of patients learn about their disease during life. Late diagnosis and untimely treatment are often caused by severe clinical disease polymorphism, different symptom onset times in patients, and a high incidence of associated conditions, in connection with which patients can be observed by different specialists without knowing the underlying diagnosis.

This review presents data on the history of the study, the etiology of the syndrome, clinical and laboratory parameters characteristic of childhood, adolescence and adulthood. The most common concomitant diseases are highlighted and current data on their prevalence, as well as the effect of testosterone replacement therapy on them, are presented.

About the authors

Daria Bespalyuk

FSBI NMRC OF ENDOCRINOLOGY OF MINISTRY OF HEALTH OF RUSSIA

Author for correspondence.
Email: dariabespalyuk@gmail.com
ORCID iD: 0000-0002-4900-6652
SPIN-code: 7129-8794

clinical fellow institute of pediatric endocrinology FSBI NMRC of endocrinology of ministry of health of russia

Russian Federation, 117036, 11, Uliyanova street, Moscow, Russia

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