Klinefelter Syndrome: a diagnosis in adolescence - case report

Klinefelter syndrome (KS) has been described in 1940 and is characterized by a chromosomal anomaly that affects males with an estimated prevalence of 1 in every 600 live births. It is a common genetic disorder, however, misdiagnosed due to high phenotypic variability in childhood. The diagnosis is made clinically and confirmed with chromosomal evaluation. The main clinical findings are small testicles, gynecomastia, azoospermia and increased gonadotropins wich characterizes hypogonadism. Treatment consists of hormone replacement therapy and multidisciplinary monitoring, early diagnosis and treatment are important, ideally during puberty, contributing to an improved quality of life for patients with this syndrome. It is a case report conducted at a child care unit in a inner city of São Paulo. The study respects the principles of resolution No. 510/2016, of the National Health Commission. It refers to a 16-year-old teenager with unilateral gynecomastia,pubescent testicles and difficulty in talking about his sexuality. The presence of signs and symptoms of androgen deficiency combined with karyotype 47, XXY led to the diagnosis of Klinefelter Syndrome. This study aims to warn about the most common signs and symptoms of the individuals with Klinefelter syndrome and also tests to elucidate diagnosis.