hrp0095p1-314 | Growth and Syndromes | ESPE2022

Klinefelter Syndrome: Clinical Spectrum Based on 21 years experience of a Pediatric Endocrinology Unit

Filipa Pinto Oliveira Joana , Cardoso Sandra , João Oliveira Maria , Freitas Joana , Ribeiro Luís , Mendes Catarina , Borges Teresa

Background and Aims: Klinefelter syndrome (KS) is the most common chromosomal abnormality in men, but because of its highly variable phenotype and clinical unawareness, it remains largely under-diagnosed. Cardinal features include tall stature, gynecomastia, hypergonadotropic hypogonadism, azoospermia and infertility. Learning and behavioral problems are also common. Testosterone replacement therapy (TRT) helps to prevent or ameliorate many of the comorbiditie...