A 11-year-old boy presents in the outpatient department with complaints of not developing secondary sexual characteristics. On examination, child is found to have tall stature, no secondary sexual characteristics. Testes are found to be small and firm and gynecomastia is noted. What is the most probable clinical diagnosis?
Ans. A. Klinefelter syndromeKlinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome.Klinefelter syndrome is a common genetic condition affecting males, and it often isn't diagnosed until adulthood. It refers to a form of hypogonadism comprising small testis, failure of development of secondary sexual characteristics and increased gonadotropins. Affected males tend to be shy and sensitive and difficulty expressing thoughts and feelings.Chromosomal analysis reveals 47 XXY karyotype. As the number of X chromosomes increases beyond 2, the clinical manifestations increase correspondingly. Management includes behavioral and psychosocial rehabilitation.
Klinefelter's syndrome
Edwards syndrome
Patau syndrome
Turner syndrome
Genetics And Genetic Disorders