Asma Ayed Alanazi , Fahad Abdullah Wajdi , Mohammed Saleh Al Issa , Albandari Abdulrahman Fallatah , Abdulrazaq Oudah Shaker , Abeer Abdalaziz AlHatim , Mona Khalid Alqubali , Reem Hamoud Alshammari , Buthaynah Abdullah Alghasham , Hassan Yousef Almohammedali , Hanan Abdullah Alrashidi , Mohammed Anwar S Bawazier

Abstract

Klinefelter syndrome is the most common sex chromosome disorder, with a prevalence of 1 in every 660 males, and despite being so prevalent, less than 30% of cases do ever get diagnosed. This is due to the very heterogeneous phenotypic presentations of the patients; failure in early identification of these patients can have dire consequences on those individuals’ overall health and life quality as it is a major cause of primary hypogonadism and subsequent infertility, in addition to the increased risk of neoplasms and a plethora of other systemic conditions. Our objective was to look into the literature concerning Klinefelter’s: clinical features and management in the pediatric population. PubMed database was used for articles selection, from where the papers were obtained and reviewed. The clinical presentation of Klinefelter syndrome patients can vary dramatically based on the age and severity of the disease. Most cases have near-normal phenotypes during infancy except for extreme phenotypes that could present with micro-pen undescended testis. As the child grows and reaches puberty detection rate increases as signs of normal puberty such as virilization and increase in muscle mass are usually deficient or incomplete. Most cases only picked up during adulthood who presents complaining of infertility. The treatment approach consists of testosterone therapy, assisted fertility, and early detection and treatment of associated complications.