What is the prognosis of Klinefelter syndrome?

Updated: Mar 23, 2020
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Early studies of men with XXY Klinefelter syndrome produced disturbing findings of an increased risk of psychiatric disturbance, criminality, and mental retardation. These results are considered highly questionable because of selection bias from institutionalized populations.

Babies with the XXY form differ little from healthy children. The results of one cohort study on nonmosaic XXY infants younger than 2 years found that most reported XXY neonates had normal external genitalia and height and weight within the normal range and were not dysmorphic. Indications for postnatal karyotyping included delayed ambulation and speech skills. These findings, along with previously reported clinical and biological features, suggest that early detection of Klinefelter syndrome is vital in monitoring potential developmental problems. [69]

Although boys with the 47,XXY karyotype may struggle through adolescence with limited academic success, many frustrations, and, in a few instances, serious emotional or behavioral difficulties, most move toward full independence from their families as they enter adulthood. Some have completed graduate education and have a normal level of functioning.

The findings of a study including 87 Australian men with Klinefelter syndrome suggest that adults diagnosed with this disease later in life experience similar personal and psychosocial difficulties compared with those diagnosed at younger ages. These individuals would benefit from early detection and intervention. [70]

Life span is presumably normal.

Hypogonadism, low libido, and psychosocial problems can be helped by testosterone treatment.

Gynecomastia can be corrected by mastectomy.

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