Klinefelter syndrome

By: Prof. Dr. Fazal Rehman Shamil | Last updated: February 3, 2024

A hereditary disorder called Klinefelter syndrome primarily affects men. In this syndrome an extra X chromosome is present giving rise to XXY genotype. In simple words, people with Klinefelter syndrome have two X chromosomes and one Y chromosome as compared to the typical genotype of XY seen in men.

Klinefelter syndrome is characterized by the presence of 47 chromosomes (with an extra X chromosome) and the combination of sex chromosomes, which is denoted by the genotype 47 (XXY). This extra X chromosome can result in a number of the syndrome’s physical and developmental traits. Few of the characteristics of Klinefelter syndrome are discussed below

  • Learning and Developmental Differences: There may be challenges with language development, reading, writing, and social skills. Some individuals may have difficulties with coordination.
  • Tall Stature: Individuals with Klinefelter syndrome may be taller with longer limbs
  • Infertility: The majority of individuals with Klinefelter syndrome are infertile
  • Hypogonadism: The testes may not produce enough testosterone, resulting in delayed puberty, reduced muscle mass, decreased body and facial hair growth.
  • Physical Features: Other physical features can include reduced muscle tone and proportionately longer arms and legs.