Diseases

Klinefelter Syndrome

klinefelter syndrome

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Entity Type: Diseases
Relation Groups: 1
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Basic Information

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Core Information

Disease Name: Klinefelter Syndrome
Standard Disease Name: klinefelter syndrome
MeSH Tree: No data
ICD-10: Q98.0|Q98.4

Identifiers

DO ID: No data
MeSH ID: D007713
OMIM ID: MTHU028322|MTHU032889
UMLS ID: C0022735
HPO ID: No data

Description and Extensions

Description: SNOMEDCT_US_2016_09_01:A male with two or more X chromosomes.|NCI2016_NCI-GLOSS_1602D:A genetic disorder in males caused by having one or more extra X chromosomes. Males with this disorder may have larger than normal breasts, a lack of facial and body hair, a rounded body type, and small testicles. They may learn to speak much later than other children and may have difficulty learning to read and write. Klinefelter syndrome increases the risk of developing extragonadal germ cell tumors and breast cancer.|NCI2016_02D:A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.|MSH2017_2016_08_12:A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).|MEDLINEPLUS_20151021: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 <a href='https://www.nlm.nih.gov/medlineplus/infertility.html'>infertility</a>. Boys may be taller than other boys their age, with more fat around the belly. After puberty, KS boys may have <ul> <li>Smaller testes and penis</li> <li>Breast growth</li> <li>Less facial and body hair</li> <li>Reduced muscle tone</li> <li>Narrower shoulders and wider hips</li> <li>Weaker bones</li> <li>Decreased sexual interest</li> <li>Lower energy</li> </ul> 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|JABL99:A common sex chromosomal anomaly in males characterized mainly by small testes with tubular hyalinization, azospermia with infertility, slight breast enlargement, elevated urinary gonadotropins, and decreased urinary 17-ketosteroids. Dull mentality has been noted. The affected individuals appear normal after birth, except for small testes. Most characteristic features become evident at adolescence as hypogonadism, gynecomastia, incomplete virilization with variable eunuchoidism, and dull mentality. Without testosterone therapy, most adult patients may become obese. Occasional abnormalities may include cryptorchidism, hypospadias, ataxia, scoliosis during adolescence, and diabetes mellitus in adulthood.|CSP2006:genetic disease that produces sterile males with small testes lacking sperm due to XXY karyotype.

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CD40 molecule

erythropoietin

G3BP stress granule assembly factor 1