Klinefelter’s syndrome, also known as XXY syndrome or Klinefelter’s syndrome, is caused by an extra X chromosome in the cells of male patients; the incidence is 1 in 1000 male newborns and is the most common disorder causing male hypogonadism.

Clinical features: The main phenotypes of typical Klinefelter syndrome are tall stature, abnormal development of secondary sexual characteristics, infertility, and gynecomastia. In the neonatal period, an increase in body length is observed, and after the age of 5 years, the rate of body growth begins to accelerate, and by the time of puberty, the body is elongated, with the lower extremities being the most prominent.The penis and testes are relatively small at birth, and the seminiferous tubules show vitreous and fibrous degeneration at maturity, with no sperm production. Secondary sexual characteristics are abnormal, including a beard, sparse body hair, female-like pubic hair distribution, and inconspicuous laryngeal nodes. Approximately half of adolescent patients have female-like overdevelopment of the mammary glands. Klinefelter’s syndrome is characterized by azoospermia or oligospermia, with the exception of a few patients with 46, XY/47, and XXY mosaics.

Treatment: The main treatment is symptomatic.

1.Androgen replacement therapy: Begin at 12-14 years of age. Start with a low dose and gradually increase according to response to promote the development of secondary sexual characteristics, psychological and behavioral development, and improve osteoporosis. Androgens can improve and maintain secondary sexual characteristics, masculinize the patient’s body shape, and increase sexual desire, but cannot treat already atretic sex cells and already enlarged breasts.

2.Surgical treatment: to correct the female physique and restore the male physique.

3.Infertility: artificial insemination can be tried with assisted reproduction techniques, the main method being intracytoplasmic sperm injection of the oocyte.


1.Before conception, avoid ionizing radiation, overdose and exposure to chemical substances and viral infections; pay attention to personal hygiene, maintain good living habits and pay attention to moderate physical exercise to increase the resistance of the body.

2.The disease is associated with advanced maternal age, and prenatal diagnosis should be performed in mothers of advanced age.

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