Hi, i've been reading on the liklihood of an abnormality passed on from a man with Klinefelter's. it seems they can't pass on Klinefelter's but can pass on problems with the baby like downs syndrome and other problems. here is what i found. i tried to clean it up, sorry i'm just having a hard time with this but want to post what i found in case others are trying to find it.
Most cases of triple X syndrome are not inherited. The chromosomal change usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of the X chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra X chromosome in each of the body's cells.
https://atlantichealth.dnadirect.co...me-abnormalities.html?kNuQr1exkv93ey1yY2VxSFu
Because boys with Klinefelter syndrome usually produce lower than average levels of the male hormone testosterone, some have physical characteristics such as small testicles and a smaller amount of facial and body hair. Men with Klinefelter syndrome tend to be either tall and lanky or more rounded with mildly enlarged breast tissue (called gynecomastia). Klinefelter syndrome does not seem to affect sexual orientation or gender identity.
Klinefelter syndrome can occur in males regardless of ethnic background or family history. It is caused by a genetic change that happens by chance, and is usually not passed down through generations of a family.
About 1 in 5 (20%) men with Klinefelter syndrome, have chromosome results that aren't simply one extra X chromosome. Other possible results include:
Mosaic Klinefelter syndrome (46,XY/47,XXY), which happens when some cells have an extra X chromosome and some cells do not.
More than one extra X or Y chromosome (48, XXXY; 48,XXYY; or 49,XXYY)
Extra X chromosomes that have an abnormal structure
While there is no cure for Klinefelter syndrome, treatments like testosterone supplements can help lessen symptoms, especially when started at puberty. Most men with Klinefelter syndrome will need help from intracytoplasmic sperm injection (ICSI) to become a biological father. This technique is successful in over half of men with Klinefelter syndrome.
Most children born to men with Klinefelter syndrome have had normal chromosomes, but there may be a higher chance to have a child with a chromosome disorder. If a man with Klinefelter syndrome is not able to have a biological child, other options (including sperm donor, adoption, and remaining childfree) can be considered.
https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(00)05201-6/abstract
Intracytoplasmic sperm injection (ICSI) has given some patients with Klinefelter's syndrome (ie, men with an XXY sex-chromosome profile) the chance to become fathers, but the genetic makeup of the spermatozoa used for the injection is a concern. We studied the segregation of the sex chromosomes and chromosomes 1 and 21 by multicolour fluorescence in-situ hybridisation in a patient with non-mosaic Klinefelter's syndrome who was a candidate for ICSI.
As other workers have found, we saw a higher rate of 24,XX and 24,XY spermatozoa in the patient than in controls. However, we also found a much higher frequency of disomy 21 in the spermatozoa of this patient than in controls (62 vs 04%). Any child conceived by ICSI using this man's sperm will thus have a proportionally higher risk of trisomy 21 (Down's Syndrome)
Non-mosaic Klinefelter patients are generally azoospermic due to primary testicular failure
https://www.aafp.org/afp/2005/1201/p2259.html
Klinefelter syndrome has been identified in 0.4 percent of boys with special education needs
Mosaicism occurs in 15 percent of men with an additional X chromosome and generally results in a milder phenotype. When mosaicism occurs, cells with two or more karyotypes are distributed. Most often, a normal chromosome number (46,XY) is identified in cells from a sample that also contains hyperdiploid cells (i.e., a Klinefelter or Klinefelter variant karyotype). In standard venipuncture, however, the ratio of normal to hyperdiploid white blood cells is not reflective of all tissues, and the phenotypic severity cannot be anticipated.
Although there have been multiple reports of successful fertilization by men with Klinefelter syndrome, genetic counseling is essential because of the increased risk of autosomal and sex chromosome abnormalities
Sex Chromosomal Abnormalities are conditions that are compatible with survival unlike other chromosomal abnormalities.
These disorders too can be detected through prenatal screening as in the case of Down syndrome. Diagnosis can be confirmed by a karyotype using a blood sample.
-Turner syndrome 1 in 2,500 to 5,000
Presence of only one X chromosome instead of two
Lack of proper sexual development,proportionate short stature, improper ovarian development, broad-webbed neck, broad and shield like chest, structural defects of the heart and kidney, triangle-shaped face, posteriorly turned ears. No Treatment Available
-Klinefelter Syndrome 1 in 1,000
Presence of an extra X chromosome in the male
Taller than average, small testis, sterility of the affected male, low I.Q, gynaecomastia, males with the condition are prone for breast cancer.
Removal of excess breast tissue can be carried out.Testosterone therapy is usually given.
-Super females 1 in 1,000
Presence of an three X chromosomes in the female than the normal 2 Tall and well built figure, mild mental ******ation, the degree of mental ******ation and physical abnormality increases with each X chromosome, sterility, and menstrual abnormalities.
Correction of symptoms or abnormalities associated with the condition
-47, XYY Karyotype Normal population: 1 in 1,000, Tihar Jail: 1 in 30
Presence of an extra Y chromosome in the normal male
Low level of I.Q, taller than average, violent behaviour, criminal tendency, behavioral problems such as attention deficit disorder, hyperactivity, aggressiveness. No treatment
most common autosomal abnormality is Down syndrome (Trisomy 21)
-Genotype: XYY
Sex: male
Syndrome: XYY syndrome
Physical Traits: normal male traits
-Genotype: XXX
Sex: female
Syndrome: Trisomy X
Physical Traits: tall stature, learning disabilities, limited fertility
https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(00)05201-6/abstract
Risk of trisomy 21 in offspring of patients with Klinefelter's syndrome
Summary: Intracytoplasmic sperm injection (ICSI) has given some patients with Klinefelter's syndrome (ie, men with an XXY sex-chromosome profile) the chance to become fathers, but the genetic makeup of the spermatozoa used for the injection is a concern. We studied the segregation of the sex chromosomes and chromosomes 1 and 21 by multicolour fluorescence in-situ hybridisation in a patient with non-mosaic Klinefelter's syndrome who was a candidate for ICSI. As other workers have found, we saw a higher rate of 24,XX and 24,XY spermatozoa in the patient than in controls. However, we also found a much higher frequency of disomy 21 in the spermatozoa of this patient than in controls (62 vs 04%). Any child conceived by ICSI using this man's sperm will thus have a proportionally higher risk of trisomy 21.
https://www.medicalnewstoday.com/releases/128761.php
Sperm found in testes of men with Klinefelter syndrome have only a slightly increased frequency of sex chromosome polysomies, and most boys born from fathers with Klinefelter syndrome have a normal karyotype. These findings indicate that during early stem-cell proliferation or meiotic division, the checkpoint mechanisms are able to overcome X chromosome polysomy resulting in sperm with a single X (or Y) chromosome. We now have 3 boys when sperm was found in ejaculate early in puberty and subsequently lost, supporting that the damage to the testis occurs early during puberty.
Disomy: The condition of having a chromosome represented twice in a chromosomal complement.
Autosomal disorders, most common - incidence/1000 births
dominant otosclerosis dominant - 3
familial hypercholesterolaemia dominant - 2
adult polycystic kidney disease dominant - 1
cystic fibrosis recessive - 0.5
recessive mental ******ation recessive - 0.5
multiple exostoses dominant - 0.5
Huntington's disease dominant - 0.5
neurofibromatosis dominant - 0.4
Mosaic or mosaicism: The presence of two or more cell lines. Mosaicism in a man with Klinefelter syndrome may consist of a cell line with a 47,XXY karyotype and another one with a normal number of chromosomes (46,XY). Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009?
Fullerton G, Hamilton M, Maheshwari A.
Source: Aberdeen Fertility Centre, Aberdeen Maternity Hospital, Aberdeen AB25 2ZN, UK.
[email protected]
Abstract
BACKGROUND: Klinefelter syndrome is a common genetic condition. Affected non-mosaic men are azoospermic and have been labelled as infertile. Despite reports that these men can have children using assisted reproduction techniques, it is not common practice in the UK to offer sperm retrieval to these men.
METHODS: Medline and EMBASE (1980-2009) were searched independently by two authors and all studies involving surgical sperm retrieval in non-mosaic Klinefelter syndrome were included. The primary outcome was success of surgical sperm retrieval and the secondary outcome was live birth rate.
RESULTS: The overall success rate for sperm retrieval was 44%, with a higher rate of success using micro-dissection testicular sperm aspiration (micro-TESE) (55%). This, along with ICSI, has led to the birth of 101 children. However, there are no known predictors for successful sperm retrieval. Although there are concerns about genetic risk to the offspring of non-mosaic Klinefelter patients, this risk has not been found to be greater than that of patients with non-obstructive azoospermia with normal karyotype.
CONCLUSIONS: It is possible for a man with non-mosaic Klinefelter to father a child. However, before these techniques are offered, some ethical issues need to be explored.
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Physical development
As babies, many XXY males have weak muscles and reduced strength. They may sit up, crawl, and walk later than other infants. After about age four, XXY males tend to be taller and may have less muscle control and coordination than other boys their age.
As XXY males enter puberty, they often don't make as much testosterone as other boys. This can lead to a taller, less muscular body, less facial and body hair, and broader hips than other boys. As teens, XXY males may have larger breasts, weaker bones, and a lower energy level than other boys.
By adulthood, XXY males look similar to males without the condition, although they are often taller. They are also more likely than other men to have certain health problems, such as autoimmune disorders, breast cancer, vein diseases, osteoporosis, and tooth decay.
XXY males can have normal sex lives, but they usually make little or no sperm. Between 95 percent and 99 percent of XXY males are infertile because their bodies don't make a lot of sperm.
Language development
As boys, between 25 percent and 85 percent of XXY males have some kind of language problem, such as learning to talk late, trouble using language to express thoughts and needs, problems reading, and trouble processing what they hear.
As adults, XXY males may have a harder time doing work that involves reading and writing, but most hold jobs and have successful careers.
Social development
As babies, XXY males tend to be quiet and undemanding. As they get older, they are usually quieter, less self-confident, less active, and more helpful and obedient than other boys.
As teens, XXY males tend to be quiet and shy. They may struggle in school and sports, meaning they may have more trouble "fitting in" with other kids.
However, as adults, XXY males live lives similar to men without the condition; they have friends, families, and normal social relationships.
Hypogonadism associated with 47,XXY can lead to a host of comorbid conditions. None appear at alarmingly high rates, but some are three to five times more prevalent among XXYs that among XY men. Among the more common medical complications are osteoporosis, a thinning of the bones making fractures more likely, and autoimmune disorders such as rheumatoid arthritis, lupus, and Type 1 diabetes. XXYs, particularly those who have not had testosterone supplementation, may suffer from venous ulcers. Thyroid disorders are also more common than usual. XXYs are more likely to suffer from seizures. Mood disorders, including depression and bipolar disorder, appear to be much more common among XXY individuals than in the population as a whole, although this has not yet been studied rigorously enough to quantify.
Studies are underway to determine the impact of testosterone therapy on reducing the risks of these complications.
That's disgusting, clarkea - about the huge wait and also about being told you'd only have a girl. How wrong can you get? As far as I understand it, if your DH is producing sperm then he'll be producing some sperm with that extra 'x' chromosome and some that are normal. If a particular sperm with an extra 'x' chromosome happens to be female then it'll create an XXX female (the female equivalent of KS - called Triple X Syndrome). It's not like only sperm with extra 'x' chromosomes will create boys - how daft is that doctor?!
I'm so glad you're getting things transferred. The funding process takes ages and I'm glad you're on the ball and keeping an eye on things - make sure you keep checking. You'll know by now that the NHS runs at a snail's pace and you need to keep making sure they're doing what they should be!
