2018, Number 1
Mul Med 2018; 22 (1)
Espino GD, Sariol CY, Domínguez YMC
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ABSTRACTIntroduction: Klinefelter syndrome is a form of male hypogonadism, characterized by the presence of an extra X chromosome, small testes, dysgenesis of seminiferous tubules, high levels of gonadotropin, low serum testosterone level, underdeveloped secondary sexual characters and male infertility. Clinical case: a white male patient, 17 years of age without facial dysmorphism, eunocoid appearance, slight hypogenitalism, skeletal anomalies and mild mental retardation. For the diagnosis of this condition, the clinical method was applied through the comparative or pattern technique. Chromosomal study was performed in peripheral blood, confirming the diagnosis of syndrome at karyotype 47, XXY. Conclusions: it is of great importance to take into account the aforementioned clinical manifestations in order to establish early diagnosis of this syndrome, offer timely genetic counseling to parents, and rehabilitate these patients physically, psychically and socially.