| ... caused by a chromasomal abnormality in which males have an extra X chromosome ... constellation of symptoms ... tall stature, small testes (microorchidism), sparse facial and body hair, enlarged breast tissue (gynecomastia), and greatly reduced sperm count ... delays ... motor skills and language development ... indistinguishable from other boys until puberty ... Testosterone replacement treatment ... should begin around 11 years of age ... Fertility counseling ... in Denmark ... 71% of prenatally identified Klinefelter syndrome were aborted ... |
Klinefelter syndrome and other sex chromosomal aneuploidies
Jeannie Visootsak and John M Graham Jr, Orphanet Journal of Rare Diseases, October 24, 2006
 [for Professionals mainly]
The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY ... most common disorder of sex chromosomes in humans ... one in 500 males ... 46,XX males also exist and it is caused by translocation of Y material including sex determining region (SRY) to the X chromosome during paternal meiosis ... 47,XXY males may present with a variety of subtle clinical signs that are age-related ... may have ... hypospadias, small phallus or cryptorchidism, developmental delay ... language delay, learning disabilities, or behavioral problems ... delayed or incomplete pubertal development with eunuchoid body habitus, gynecomastia, and small testes. Adults are often evaluated for infertility or breast malignancy ... replacement therapy should begin at puberty, around age 12 years ... Affected individuals have longer arms and legs ... Testicular volume is typically less than 10 ml in postpubertal 47,XXY individuals ... most patients with Klinefelter syndrome are infertile ... few patients with reports of pregnancy without assisted medical technology ... 69% (29 of 42 men) had adequate sperm found using intracytoplasmic sperm injection ... wide range of intelligence quotient (IQ) has been noted ... breast carcinoma in 47,XXY is relatively increased ... Associated endocrine complications include diabetes mellitus, hypothyroidism, and hypoparathyrodism ... lupus erythematosus, Sjogren syndrome, and rheumatoid arthritis, are more common ... with frequencies similar to those found in 46,XX females ... Development of varicose veins and leg ulcers may result from venous stasis ... recurrence risk is not increased above that of the general population ...
Search | NICHD - Eunice Kennedy Shriver National Institute of Child Health and Human Development (nih.gov)
Listing of selected information site
Learning About Klinefelter Syndrome
National Human Genome Research Institute, December 2006
"... reliable source ... up-to-date information ..."
Klinefelter's Syndrome
National Library of Medicine, June 14, 2007
"... links to journal articles ..."
Deutsche Klinefelter-Syndrom Vereinigung
[Support Group] [Geman]
Signe clinique de: Klinefelter syndrome
Orphanet
[French]
Brachycephalie/occiputplat … clinodactylie due 5eme doigt … dermatoglyphes anormaux (autre que ppt) … grand taille/gigantisme … gynecomastie/glande mammaire hyperplasie … hyperglycemie/diabete non ins. dep. … hypospadias/epispadias/verg coudee … membres longs … micropenis/verg petite … mouvements anormaux … obesite genralissee … osteoporose … pli palmaire transverse … retard mental modere/leger … retard pubertaire/hypogonadisme … scolise … sterilite/hypofertilite … testicule ectopie/cryptorchidie … trisomie ou monosomie totale/partielle … troubles du comportement …
Klinefelter Syndrome
I.B.I.S. Birth Defects, 2002
[Ukrainian]
History ... What is Klinefelter syndrome ... Cause ... Diagnosis ... Advices to patients, thier families and friends ... Childhood ... Early detection of speaking problems ... Advices concerning studying at school ... Juvenile age ... Testosterone treatment ... Chromosome variations ... Sexuality ... Infertility ... Adult age
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Last Updated: 2023/07/31
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