Information for Patients
Also called: XXY male
Klinefelter syndrome (KS) is a condition that occurs in men who have an extra X chromosome. The syndrome can affect different stages of physical, language, and social development.
The most common symptom is infertility. Boys may be taller than other boys their age, with more fat around the belly. After puberty, KS boys may have
- Smaller testes and penis
- Breast growth
- Less facial and body hair
- Reduced muscle tone
- Narrower shoulders and wider hips
- Weaker bones
- Decreased sexual interest
- Lower energy
KS males may have learning or language problems. They may be quiet and shy and have trouble fitting in.
A genetic test can diagnose KS. There is no cure, but treatments are available. It is important to start treatment as early as possible. With treatment, most boys grow up to have normal lives.
Treatments include testosterone replacement therapy and breast reduction surgery. If needed, physical, speech, language, and occupational therapy may also help.
NIH: National Institute of Child Health and Human Development
- Klinefelter syndrome (Medical Encyclopedia)
Klinefelter syndrome Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Its signs and symptoms vary among affected individuals.Affected individuals typically have small testes that do not produce as much testosterone as usual. Testosterone is the hormone that directs male sexual development before birth and during puberty. A shortage of testosterone can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), reduced facial and body hair, and an inability to have biological children (infertility). Some affected individuals also have genital differences including undescended testes (cryptorchidism), the opening of the urethra on the underside of the penis (hypospadias), or an unusually small penis (micropenis).Older children and adults with Klinefelter syndrome tend to be taller than their peers. Compared with unaffected men, adults with Klinefelter syndrome have an increased risk of developing breast cancer and a chronic inflammatory disease called systemic lupus erythematosus. Their chance of developing these disorders is similar to that of women in the general population.Children with Klinefelter syndrome may have learning disabilities and delayed speech and language development. They tend to be quiet, sensitive, and unassertive, but personality characteristics vary among affected individuals.
General Equivalence Map Definitions
The ICD-10 and ICD-9 GEMs are used to facilitate linking between the diagnosis codes in ICD-9-CM and the new ICD-10-CM code set. The GEMs are the raw material from which providers, health information vendors and payers can derive specific applied mappings to meet their needs.
- Approximate Flag - The approximate flag is on, indicating that the relationship between the code in the source system and the code in the target system is an approximate equivalent.
- No Map Flag - The no map flag indicates that a code in the source system is not linked to any code in the target system.
- Combination Flag - The combination flag indicates that more than one code in the target system is required to satisfy the full equivalent meaning of a code in the source system.