| ... 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 ... |
Understanding Klinefelter Syndrome A guide for XXY Males and their families
Robert Bock Office of Research Reporting, NICHD - August 1993.
 [for Professionals mainly][Support Group]"... comprehensive site ..."
What is Klinefelter Syndrome? … Causes … Diagnosis … Detecting Language Problems Early … Testosterone Treatment … Resources … In 1942, Dr. Harry Klinefelter and his coworkers at the Massachusetts General Hospital in Boston published a report about nine men who had enlarged breasts, sparse facial and body hair, small testes, and an inability to produce sperm … "I never refer to newborn babies as having Klinefelter's, because they don't have a syndrome," said Arthur Robinson, M.D., a pediatrician at the University of Colorado Medical School in Denver … "Presumably, some of them will grow up to develop the syndrome Dr. Klinefelter described, but a lot of them won't." … the term "Klinefelter syndrome" has fallen out of favor with medical researchers. Most prefer to describe men and boys having the extra chromosome as "XXY males." … often don't appear any different from anyone else, many XXY males probably never learn of their extra chromosome … a few XXY males are diagnosed at adolescence, when excessive breast development forces them to seek medical attention … When the truth is withheld, children often suspect that their parents are hiding something … This school of thought maintains that by the time he is 10 or 11 years old, the child can be told that his cells differ slightly from those of other people … By roughly the age of 12, depending on the child's emotional maturity, he can be told that he will most probably be infertile …other experts believe that holding back the information does not appear to do any harm. Instead, telling an XXY boy about his extra chromosome too early may have some unpleasant consequences. An 11 or 12-year-old, for example, may associate infertility with sexual disorders and other concepts he may not yet understand … children, when making friends, tend to share secrets … confidences are sometimes betrayed. A malicious or thoughtless child may tell all the neighborhood children that his former companion is a "freak" … In some, the language delays may be more severe … Detecting Language Problems Early … If their son's speech seems to be lagging behind that of other children, parents should ask their child'' pediatrician for a referral to a speech pathologist for further testing … pay particular attention to their children's hearing … Teaching Tips … XXY males often have decreased immediate auditory recall … Parents and teachers can help them remember by approaching memory through visual channels … Research indicates that XXY boys may do poorly in an open classroom situation and seem to prefer a structured, tightly organized environment centered around familiar routines … Adolescence … they fail to keep pace with other males …only about 10 percent of XXY males have breast enlargement great enough to require surgery … males should begin testosterone treatment as they enter puberty … testosterone injections often bring on psychological changes as … As a group, XXY boys tend to suffer from depression, principally because of their scholastic difficulties and problems fitting in with other males their age. Sudden, angry changes in mood are typical of depressed people … there is no evidence that XXY males are any more inclined toward homosexuality than are other men … XXY males may have less interest in sex … The vast majority of XXY males do not produce enough sperm to allow them to become fathers … However, no XXY male should automatically assume he is infertile without further testing. In a very small number of cases, XXY males have been able to father children … XXY males have a slightly increased risk of autoimmune disorders … XXY males with enlarged breasts have the same risk of breast cancer as do women-roughly 50 times the risk XY males have …
Learning About Klinefelter Syndrome
National Human Genome Research Institute, December 2006
"... reliagble source ... up-to-date information ..."
Klinefelter Syndrome
National Institute of Child Health & Human Development, May 24, 2007
"... very detailed, current information ... free booklet ... "
Klinefelter's Syndrome
National Library of Medicine, June 14, 2007
"... links to journal articles ..."
Klinefelter's Syndrome - An Orientation
The National Society of Turner Contact Groups in Denmark.
[for Professionals mainly]
In 1942, Harry Klinefelter and associates described the syndrome … found in approximately 1 per 1,000 males … chromosome constitution 47,XXY is found in approximately 80%. In 6% there is normal chromosome constitution, 46,XY, in part of the cells and 47,XXY in the rest, i.e. a so-called chromosome mosaic. In 5% there are two X chromosomes and no Y chromosome (46,XX) … Boys with Klinefelter's syndrome are usually quite normally developed at birth … If Klinefelter-boys grow up in a good, stable and stimulating environment their intelligence will usually be within the normal range … Boys with Klinefelter's syndrome have a somewhat greater height growth acceleration … due to an increased growth of the legs … Klinefelter-boys have testicles of normal size at birth, but whereas the testicles in boys with normal chromosomes rapidly increase in size around the age of 11-12 from the average size of 1 to 12 ml, the testicles of the Klinefelter boys usually stay around 2 ml or below that all through life … Sexual libido and potency develop normally, especially if testosterone treatment is given from the age of puberty … The chromosome constitution has, however, nothing to do with homosexuality … have no increased tendency to homosexuality … Klinefelter-males can marry … Klinefelter marriages are most probably neither better nor worse than other marriages. A prerequisite … usually regular testosterone treatment …
49,XXXXY
Cytogenetics Lab, July 1999
A variant of Klinefelter's syndrome … are male, typically with … tall stature …
Klinefelter Syndrome and Associates
Klinefelter Syndrome and Associates, Inc., May 21, 2007
Klinefelter Syndrome and Associates is a non-profit education and support organization for the genetic condition Klinefelter Syndrome (XXY) and its variants. You'll be amazed at the wealth of information provided here on this very common, but under-diagnosed condition …
The Klinefelters Syndrome Page
Harold Chen, MD, MS, FAAP, FACMG, November 2, 2001
An Internet mailing list has been created for the exchange of information and support of Klinefelter Syndrome ...
Clinical sign of: Klinefelter syndrome
Orphanet
abn. dermatoglyphics excl. simian crease … behavior disorder/autism … brachycephaly/plat occiput … chromosomal anomalie (number) … clinodactyly of fifth finger … generalized obesity … gynecomastia/breast enlargement … hyperglycemia/diabetes mellitus … hypospadias/epispadias … late puberty/hypogonadis … long limbs … mental retardation (mild) … micropenis/small penis … movement disorder … osteoporosis … asoliosis … simian crease … sterility/hypofertility … tall stature … undescended/ectopic testes …
Gente XXY El SÃndrome de Klinefelter
[Support Group][Spanish]
Gente XXY es una Website Personal, que surge de mi inquietud personal por este tema, no representa por tanto ninguna Asociacion… a aquellos que buscan informacion sobre esta Condicion Genetica, Personas recientemente diagnosticadas, Padres y Futuros Padres, ante un Diagnostico Prenatal de Cariotipo 47,XXY …
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
[Japanese]
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: 2008/1/07
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