Klinefelter syndrome in children and adolescents: combination of genetics and endocrinology
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Abstract
The purpose was to analyze literature on the etiology and pathogenesis of Klinefelter syndrome (KS). The review of scientific literature regarding KS by the key words “Klinefelter syndrome”, Klinefelter-Reifenstein-Albright syndrome”, “pubertal underdevelopment of seminiferous tubules”, “syndrome 47, XXY” using PubMed as a search engine. Statistical data on KS are ambiguous. According to some authors, the frequency of births of children with KS defined as 1 case per 500–1000 live-birth boys further increases to 3–4 % among infertile men, and in patients with azoospermia, KS is diagnosed in 10–12 % of cases. Approximately 10 % of cases of KS is detected by prenatal diagnosis. Phenotypic variability may depend on the severity of genetic defects, androgen deficiency, androgen receptor sensitivity (CAG polymorphism) or accidental inactivation of the additional information of the X chromosome. Pediatricians should be aware of the phenotypic variability of the KS, in particular, to pay attention to mental and verbal disorders. It is also necessary to conduct a comprehensive molecular genetic study with medical genetic counseling for all children with ambiguous sexual organs. Timely prescribed therapy will able to minimize not only phenotypic manifestations of the syndrome, but also possibly postpone the rapid loss of spermatogenic cells, which will help these patients to realize their reproductive function.
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