Genetic klinefelter syndrome. Medical search. Frequent questions

Klinefelter's syndrome is a condition in which men have an extra X chromosome in most of their cells - an XXY pattern instead of the normal XY pattern that most men have. (medwonders.com)
Would you like to join the Klinefelter's Syndrome support group? (medwonders.com)
Are you sure you want to be removed from the Klinefelter's Syndrome support group? (medwonders.com)
Diagnosing Klinefelter's syndrome in a 1000-year-old skeleton. (edu.au)
Unfortunately, the infertility aspect of Klinefelter's is rarely treatable, although some Klinefelter males have become Dads thanks to an assisted reproduction technique called ICSI . (sharedjourney.com)
These disorders may be genetic, such as Klinefelter's syndrome, or acquired due to trauma , infection, reduced blood flow, or aging . (medicinenet.com)
This book presents the latest insights into all the critical aspects of Klinefelter's Syndrome, in order to promote a more homogeneous a medical approach to this condition, leading to better and more "evidence-based" support, and improving patient satisfaction. (stanford.edu)
There are genetic disorders caused by the abnormal chromosome number, Down syndrome and Klinefelter's syndrome. (writework.com)
Hypostatic ulcers in 47,XXY Klinefelter's syndrome. (uchicago.edu)
Klinefelter's Syndrome is a genetic condition that was named after Dr Harry Klinefelter, a Baltimore endocrinologist. (ksa-uk.net)
By the late 1950s other researchers discovered that subjects with Klinefelter's Syndrome (KS)/XXY had an extra sex chromosome. (ksa-uk.net)
Some XXY people believe that they do not suffer from Klinefelter's Syndrome while others have been diagnosed with KS despite not having the extra chromosome. (ksa-uk.net)
What are the symptoms of Klinefelter's syndrome? (artfertilityclinics.com)
Klinefelter's syndrome is best described as a genetic condition that affects the male child only. (premiumessays.net)
Klinefelter's syndrome can also cause reduced muscle mass, facial hair, enlarged breast tissues and reduced body. (premiumessays.net)
As earlier mentioned, Klinefelter's syndrome is not noticed until puberty which can come late if the male child has the syndrome. (premiumessays.net)
The genetic variation of Klinefelter's syndrome cannot be reversed. (premiumessays.net)

An estimated 50% of males with Klinefelter syndrome can produce sperm. (wikipedia.org)
A form of primary testicular failure occurs in males with Klinefelter Syndrome, with elevated gonadotropin levels due to lack of feedback inhibition by the pituitary gland. (medscape.com)
Klinefelter males are born with at least one extra X chromosome in each of their cells. (wdxcyber.com)
Some Klinefelter males experience symptoms of their condition as boys or teenagers, and they therefore benefit from diagnosis and treatment at an earlier stage. (wdxcyber.com)
It's common, for example, for Klinefelter males to have less body or facial hair, and less muscle mass, than "normal" males. (wdxcyber.com)
On the other hand, a great many Klinefelter males look completely ordinary, and enjoy a healthy and normal sex life until the time comes to have children. (wdxcyber.com)
Moreover, there is a very, very small number of Klinefelter males who have managed to become biological fathers. (wdxcyber.com)
Klinefelter males, on the other hand, have at least one spare X - so the make-up of Klinefelter cells will be XXY. (sharedjourney.com)
Klinefelter males are born with the condition. (sharedjourney.com)
Although some Klinefelter males will exhibit symptoms of the condition from boyhood, many don't realize that they have the condition until they try as adults to become fathers. (sharedjourney.com)
Early identification and anticipatory guidance are extremely helpful, although Klinefelter syndrome is rarely diagnosed in prepubertal males. (medscape.com)
Males with Klinefelter syndrome should receive a comprehensive psychoeducational evaluation to assess their areas of strengths and weaknesses. (medscape.com)
Individuals with this syndromes are phenotypically males but with tendency towards femaleness. (majordifferences.com)
Klinefelter syndrome (KS) refers to a genetic condition where the males have an extra chromosome making the total number of chromosomes 47 instead of 46 in healthy males. (artfertilityclinics.com)
Males with the syndrome are often infertile, but sometimes the testes develop enough to produce sperm. (msdmanuals.com)
Klinefelter syndrome is a genetic condition that affects males. (umcvc.org)
Effects of the syndrome will vary from one individual to another and not all the males portray the same symptoms and signs. (premiumessays.net)

Klinefelter syndrome is characterized by hypogonadism (micro-orchidism [small testes], oligospermia/azoospermia), gynecomastia in late puberty, hyalinization and fibrosis of the seminiferous tubules, elevated urinary gonadotropin levels, and behavioral concerns. (medscape.com)
Management and treatment should focus on 3 major facets of the syndrome: hypogonadism, gynecomastia, and psychosocial problems. (medscape.com)
Often it is not diagnosed until adulthood and it is considered to be a type of hypogonadism that affects testicle growth, lower levels of testosterone are produced, which is why the majority of men who have Klinefelter syndrome produce little or no sperm. (institutobernabeu.com)
Kallmann syndrome (anosmic hypogonadotropic hypogonadism) has been associated with mutations in KAL1, FGFR1, FGF8, PROK2, and PROKR2 genes. (diseasesdic.com)
Mutations of an additional gene, CHD7, which has been associated with CHARGE syndrome, has also been found in patients with normosmic or anosmic hypogonadotropic hypogonadism. (diseasesdic.com)
Classic Kallmann syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH) are rare genetic conditions that encompass the spectrum of isolated hypogonadotropic hypogonadism. (medscape.com)
By definition, either anosmia (lack of sense of smell) or severe hyposmia is present in patients with Kallmann syndrome, in contrast to patients with idiopathic hypogonadotropic hypogonadism, whose sense of smell is normal. (medscape.com)
MRI of the brain in patients with Kallmann syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH). (medscape.com)
Deficient hypothalamic GnRH secretion underlies the markedly abnormal gonadotropin secretion patterns in most patients with Kallmann syndrome or idiopathic hypogonadotropic hypogonadism. (medscape.com)
Some of the genes involved in the pathogenesis of Kallmann syndrome and idiopathic hypogonadotropic hypogonadism have been identified. (medscape.com)
[ 3 ] In addition, mutations of the gene encoding chromodomain-helicase DNA-binding protein 7 ( CHD7 ) have been found in some patients with Kallmann syndrome or idiopathic hypogonadotropic hypogonadism, some of whom have features of the CHARGE syndrome (characterized by delayed growth and development, congenital cardiac defects, dysmorphic ears, hearing loss, coloboma of the eyes). (medscape.com)
Loss-of-function mutations of critical components of the prokineticin pathway have been implicated in the pathogenesis of Kallmann syndrome and idiopathic hypogonadotropic hypogonadism. (medscape.com)
Few genetic disorders are reported in the literature which present with hypogonadism and mental-psychiatric conditions and like attention deficit, autism, depression, anxiety, hyperactivity disorder, schizophrenia, bipolar, and hypogonadism [7] [8]. (scirp.org)

The syndrome is defined by the presence of at least one extra X chromosome in addition to a Y chromosome yielding a total of 47 or more chromosomes rather than the usual 46. (wikipedia.org)
Chromosomal sex refers to the genetic makeup of a human, typically XX or XY chromosomes. (mdedge.com)
Klinefelter syndrome is the presence of two or more X chromosomes plus one Y, resulting in a phenotypic male. (msdmanuals.com)
Rather than having 46 chromosomes, including the two sex chromosomes X and Y (46,XY), boys and men with Klinefelter syndrome have an additional X chromosome (47,XXY). (andrologyawareness.eu)
Klinefelter syndrome occurs when a boy is born with one or more extra X chromosomes. (umcvc.org)

A genetic disorder, or genetic disease, is a disease caused by abnormal expression of one or more genes in a person causing a distinct phenotype. (writework.com)
Klinefelter syndrome: expanding the phenotype and identifying new research directions. (uchicago.edu)
Originally coined by Conrad Waddington in his famous " epigenetic landscape ", the word signified the emergence of the eventual phenotype of an organism through the processes of development, starting from a particular genetic profile. (wiringthebrain.com)
An abnormal human female phenotype, called Turner syndrome , was described by H. H. Turner and associates 1938. (majordifferences.com)
PWS is the most common phenotype of genetic obesity. (bvsalud.org)

It is named after American endocrinologist Harry Klinefelter, who identified the condition in the 1940s. (wikipedia.org)

Embryos can have an extra sex chromosome, as seen in Klinefelter syndrome, which is characterized by XXY karyotype. (mdedge.com)

A study by Samango-Sprouse et al indicated that early hormone therapy can improve social behavior in boys with Klinefelter syndrome. (medscape.com)
Most boys with Klinefelter syndrome have normal or slightly decreased intelligence. (msdmanuals.com)

The signs and symptoms of Klinefelter syndrome vary. (medlineplus.gov)
Treatments are available for some symptoms of Klinefelter syndrome - for example, testosterone therapy can help men who have some feminine features. (sharedjourney.com)
Boys and men with Klinefelter syndrome also have a variety of other symptoms. (andrologyawareness.eu)
Many men with Klinefelter syndrome do not have obvious symptoms. (umcvc.org)

Until 1996, men with Klinefelter syndrome were considered infertile. (medscape.com)
Klinefelter syndrome - a condition that causes men to have more than one X chromosome, which produces longer legs, higher voice, thinner beard, smaller testicles and being infertile. (holyname.org)
However, some men who are infertile because of genetic or chromosomal alterations can still have children by use of different assisted reproduction techniques. (andrologyawareness.eu)

Klinefelter syndrome can make it difficult for people with this condition to have biological children (a condition called infertility), but up to half of people with Klinefelter syndrome may be able to have children using assisted reproductive technologies. (medlineplus.gov)
Even if the problem is male-factor infertility, the chances of a man having Klinefelter syndrome are relatively low. (wdxcyber.com)
An almost certain consequence of having the syndrome is permanent infertility. (sharedjourney.com)
See our section on Klinefelter treatment, under Male Infertility: Drugs and Treatment, for more information. (sharedjourney.com)
The most common confirmed cause was a previous vasectomy, which accounted for 8.6 per cent of cycles undertaken for male infertility, while genetic conditions accounted for 3.9 per cent. (9news.com.au)
Scientists have shown there are a range of factors that can lead to male infertility, including obesity, diseases and genetic issues. (9news.com.au)
Infertility affects 12% of the male population, and among the main factors are obesity, infections, exposure to chemical factors, smoking and genetic changes. (fapesp.br)
In up to 30% of infertility cases the cause may be genetic . (genosalut.com)
At Genosalut we analyse the genetic causes of male infertility and female infertility. (genosalut.com)
In many cases, the results of certain genetic tests provide information that makes it possible to determine or narrow down the cause of infertility . (genosalut.com)
We take into account common and rare genetic causes of infertility. (genosalut.com)
In recent years, genetic diagnosis and counselling have acquired a relevant role in c ases of infertility and recurrent miscarriages , making it possible to clarify the cause of these problems and also to propose solutions in a high percentage of cases. (genosalut.com)
What are genetic causes of male infertility? (andrologyawareness.eu)
Male infertility can in some cases be due to detrimental alterations in the man's genetic material - his DNA. (andrologyawareness.eu)
In such cases, the infertility has a genetic cause. (andrologyawareness.eu)
Genetic causes can be identified in one in every four to five men with severe infertility, meaning men who have no sperm cells in the ejaculate. (andrologyawareness.eu)
The three most common genetic causes of male infertility are Klinefelter syndrome, microdeletions of the Y chromosome, and mutation in the CTFR gene. (andrologyawareness.eu)
Can genetic causes of male infertility be treated? (andrologyawareness.eu)
Lack of one or more AZF regions, called AZF deletions, is a relatively common genetic cause of infertility in men with no or only few sperm cells in the ejaculate. (andrologyawareness.eu)

The researchers suggest their new statistical method to analyse the genetic data can be further improved to study different chromosomal abnormalities, including Down Syndrome, in other archaeological specimens but also in forensics and pre-natal diagnosis settings. (edu.au)
In addition to detecting certain genetic abnormalities, both noninvasive prenatal testing (NIPT) and preimplantation genetic testing (PGT) can discern the chromosomal sex of a fetus prior to birth. (mdedge.com)
Douglas Bevis's description of amniocentesis, the removal of amniotic fluid from pregnant women, led to the procedure becoming a standard diagnostic tool to check fetal maturity, health, and genetic abnormalities. (wikisummaries.org)
Amniocentesis, then, is a technique that may be used to allow physicians to examine the health and the presence or absence of genetic abnormalities in human fetuses before they are born. (wikisummaries.org)
This study aimed to assess the prevalence of chromosomal abnormalities among patients suspected of genetic disorders in Ouagadougou, Burkina Faso. (bvsalud.org)
CONCLUSION: This this study revealed a high frequency of chromosomal abnormalities, with a predominance of structural abnormalities, among patients suspected of genetic disorders in Ouagadougou. (bvsalud.org)
The findings emphasize the significance of genetic evaluation and counseling services in the region, particularly for autosomal abnormalities. (bvsalud.org)

Individuals with Klinefelter syndrome typically have small testes that produce a reduced amount of testosterone (primary testicular insufficiency). (medlineplus.gov)
Adult Klinefelter men may have smaller-than-average testes . (sharedjourney.com)
The diagnosis of Klinefelter syndrome is suspected based on physical examination of an adolescent with small testes and gynecomastia. (msdmanuals.com)
Whereas most men with Klinefelter syndrome do not have any sperm in the ejaculate, mature and viable sperm can be found within the testes in about 40% of men with Klinefelter syndrome. (andrologyawareness.eu)
If a man with Klinefelter syndrome wants to genetically father a child, a procedure called testicular sperm extraction (TESE) can be used to take out sperm cells directly from the testes. (andrologyawareness.eu)
Congenital agonadism is also known as congenital anorchia, male gonadal agenesis, testicular agenesis, vanishing testes syndrome, regressed testes syndrome [1]. (scirp.org)
The patient denies any family history of testicular agenesis syndrome and has a brother with normal testes and male development. (scirp.org)

The study coordinated by Dr João Teixeira, an ARC DECRA Fellow at The Australian National University (ANU) and a titleholder with the University of Adelaide , brought together an international and multidisciplinary team that combined genetic, statistical, archaeological and anthropological information to establish a definitive diagnosis. (edu.au)
A combination of tests are used to diagnosis Klinefelter syndrome. (wdxcyber.com)
A man who receives a positive diagnosis of Klinefelter syndrome will have to accept that it's very unlikely he'll ever biologically father a child. (wdxcyber.com)
We aimed to investigate change over time in incidence, prevalence and age at diagnosis among Turner syndrome (TS), Klinefelter syndrome (KS), Triple X syndrome (Triple X) and Double Y syndrome (Double Y). (biomedcentral.com)
Preimplantation genetic testing for a Monogenic or Single Gene Disorder (PGT‐M) is formerly known as Preimplantation genetic diagnosis (PGD). (artfertilityclinics.com)
The syndrome diagnosis is clinical based on physical and behavioral data which can be confirmed by the analysis of chromosome 15 segment (q11-q13) through methylation or in situ hybridization 10 . (bvsalud.org)

In 1942, Klinefelter et al published a report describing nine men with a constellation of features: testicular dysgenesis, microorchidism, eunuchoidism, gynecomastia, elevated urinary gonadotropins, and azoospermia. (medscape.com)

During puberty, the physical traits of the syndrome become more evident - because these boys do not produce as much testosterone as other boys, they have a less muscular body, less facial and body hair, and broader hips. (wikipedia.org)
Because men with Klinefelter syndrome tend to have low testosterone, they may have some physical characteristics that make them stand out from other men. (wdxcyber.com)
Throughout their development, the syndrome prevents their bodies from producing enough of the male sex hormone testosterone. (sharedjourney.com)
However, some studies have shown testosterone treatment stimulates penile growth and talk about the important role of testosterone trial in the treatment of micropenis which may present during different clinical syndromes and conditions [6]. (scirp.org)

This website was enabled by the generous support of The American Association for Klinefelter Syndrome Information and Support, in memory of Wolfram Nolten, MD, an endocrinologist whose assistance and care were a continual inspiration to the Klinefelter community. (genetic.org)

A genetic disorder that causes abnormal development of many parts and systems of the body. (hopkinsmedicine.org)
The blood tests aim to detect any abnormal levels of certain hormones in the body, which can be an indicator of this genetic condition. (sharedjourney.com)

The syndrome affects testicular growth adversely resulting to testicles that are smaller than normal. (premiumessays.net)

There are men with Klinefelter syndrome all over the world who have become fathers through adoption, or assisted reproduction procedures using sperm from an anonymous donor. (wdxcyber.com)
Over the last decade, developments in microsurgical techniques and advances in artificial reproductive technologies (ART) allowed more than 50% of patients with Klinefelter syndrome to have their own children through the combination of microsurgical testicular sperm extraction (TESE) and the use of freshly retrieved sperm for in-vitro fertilization (IVF). (medscape.com)
More than 60 children have been born worldwide after successful intracytoplasmic sperm injection (ICSI) in couples in which the male partner has Klinefelter syndrome. (medscape.com)
A minority of men with Klinefelter syndrome have viable sperm in their ejaculate and are able to provide sperm for cryopreservation for future pregnancies. (medscape.com)
Microdissection testicular sperm extraction is an effective sperm retrieval technique in men with Klinefelter syndrome. (medscape.com)
If analysis of a semen sample shows that a man has no sperm cells or very few sperm cells in the ejaculate, the doctor will have a blood sample analysed for genetic or chromosomal alterations. (andrologyawareness.eu)
Often, the syndrome is not diagnosed till adulthood and most men with the syndrome will report to produce little to no sperm. (premiumessays.net)

KS is diagnosed by the genetic test known as a karyotype. (wikipedia.org)
[ 1 ] The etiology was thought to be due to an endocrine disorder of unknown cause, until 1959, when Jacobs et al recognized that Klinefelter syndrome was a chromosomal disorder in which there is an extra X chromosome, resulting in the karyotype 47,XXY. (medscape.com)
Today, the term Klinefelter syndrome (KS) refers to a group of chromosomal disorders in which the normal male karyotype, 46,XY, has at least one extra X chromosome. (medscape.com)
If Klinefelter syndrome is not diagnosed prenatally, a patient with 47,XXY karyotype may demonstrate various subtle, age-related clinical signs that would prompt diagnostic testing. (medscape.com)
Embryos can also be devoid of a sex chromosome, as observed in Turner's syndrome, which is characterized by an XO karyotype. (mdedge.com)

Klinefelter Syndrome is a super rare genetic but non-hereditary condition that gives men an. (ancient-origins.net)
In this case, the genetic disorder is known as a hereditary disease. (writework.com)

The researchers say the findings will help establish a historic record for Klinefelter Syndrome, as well as enhance understanding of its prevalence throughout human history. (edu.au)
Rett syndrome (MIM 312750) is a neurodevelopmental disorder affecting postnatal brain growth, with a prevalence estimated to be 1:10,000 to 22,000 females. (neurology.org)

Most often, hemophilia is a congenital disease, meaning the person who has it inherited the genetic mutation that causes it from a parent. (everydayhealth.com)

Klinefelter syndrome occurs when a boy has one extra X chromosome. (msdmanuals.com)

Genetic mutations. (cdc.gov)
Genetic mutations refer to changes in genes that cause differences among individuals. (medicalnewstoday.com)
Genetic mutations can influence any stage in this process and produce a wide range of characteristics. (medicalnewstoday.com)
Genetic mutations occur all the time and are usually harmless. (medicalnewstoday.com)
Strong family history of breast cancer or genetic mutations proven to increase the risk of breast cancer such as BRCA1 or BRCA2. (holyname.org)
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl CpG binding protein 2 ( MeCP2 ) gene. (neurology.org)
The most frequent genetic form of obstructive azoospermia is caused by mutations in the CFTR gene. (andrologyawareness.eu)
Mutations of the KAL1 gene, which encodes a putative neural cell adhesion molecule (anosmin), have been described in several patients with X-linked Kallmann syndrome. (medscape.com)
Loss-of-function mutations of the gene encoding fibroblast growth factor receptor 1 (FGFR1) have been described in patients with autosomal dominant Kallmann syndrome. (medscape.com)
Mutations of the gene encoding fibroblast growth factor 8 have been found in a small minority of patients with autosomal dominant Kallmann syndrome. (medscape.com)
[ 7 ] Homozygous, heterozygous or compound heterozygous mutations of the prokineticin receptor 2 have also been associated with Kallmann syndrome. (medscape.com)
Although SLE is generally a complex genetic illness, there are several examples of mutations that can produce a monogenetic form of the illness. (medscape.com)

An estimated 60% of pregnancies with fetuses having Klinefelter syndrome abort. (wikipedia.org)
Usually, sixteen-week-old fetuses are used because it is a generally safe time to carry out the procedure, samples of amniotic fluid large enough for detailed analysis can be obtained without harming the fetus, and an adequate time period is available for completion of necessary genetic and biochemical studies soon enough for elective abortion, if necessary. (wikisummaries.org)
Also, only 1-2% of Turner Syndrome fetuses are born alive. (majordifferences.com)

The relationship with Kallmann syndrome is thought to be because these genes are all related to the development and migration of GnRH neurons. (diseasesdic.com)
Additionally, Prader-Willi and Angelman syndromes are the main recognized human diseases determined by mechanisms of genomic imprinting, that is, a genetic phenomenon in which certain genes are expressed by only one allele 7 . (bvsalud.org)

Klinefelter syndrome, also called 47,XXY, is a chromosomal condition that affects development in people who are assigned male at birth. (medlineplus.gov)
The Klinefelter syndrome is a genetic condition that affects men when they have an additional copy of the X chromosome. (institutobernabeu.com)

The Turner syndrome is due to monosomy X (45, X). This monosomic has a chromosome complement of 44 autosomes and one X chromosome (44+XO). (majordifferences.com)
This is incorrect regarding turner Syndrome. (majordifferences.com)
What characteristics a turner Syndrome girl has depends on how many of her cells were affected. (majordifferences.com)
Additionally, one case each of Turner syndrome and Klinefelter syndrome were identified. (bvsalud.org)

We also perform carrier screening for a variety of recessive, autosomal or X-linked genetic diseases. (genosalut.com)

Klinefelter syndrome affects about 1 in 650 newborns who were assigned male at birth. (medlineplus.gov)

If genetic testing shows that you have a BRCA1 or BRCA2 gene mutation, your doctor will explain what you should do to find cancer early, if you get it. (cdc.gov)
It is the result of a genetic mutation that is more likely to arise in the children of older men. (medicalnewstoday.com)
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. (uchicago.edu)

People with Klinefelter syndrome very rarely have intellectual disabilities. (medlineplus.gov)
In cases of reduced semen quality, genetic causes are rarely found. (andrologyawareness.eu)

People with Klinefelter syndrome tend to have better receptive language skills (the ability to understand speech) than expressive language skills (vocabulary and the production of speech) and may have difficulty communicating and expressing themselves. (medlineplus.gov)

Adolescent male with Klinefelter syndrome who has female-type distribution of pubic hair and testicular dysgenesis. (medscape.com)

Fertility treatments such as ICSI combined with Preimplantation Genetic Testing can help men with KS to have healthy babies. (artfertilityclinics.com)

At birth, obstetrician/gynecologists most often look at the phenotypic sex and make assumptions about the genetic and gonadal sex based on the secondary sexual characteristics. (mdedge.com)
Images reproduced from Quinton R, et al: The neuroradiology of Kallmann's syndrome: a genotypic and phenotypic analysis. (medscape.com)

Klinefelter syndrome is one of the most common chromosomal disorders, occurring in one to two per 1,000 live male births. (wikipedia.org)
Klinefelter Syndrome is a genetic condition where male individuals are born with an extra copy of the X chromosome, occurring in approximately one in 1,000 genetic-male births. (edu.au)
One in every 500 male births is the victim of this syndrome. (majordifferences.com)

Individuals with Klinefelter syndrome may have have anxiety, depression , impaired social skills, or behavioral differences, such as emotional immaturity during childhood or difficulty with frustration. (medlineplus.gov)

The team analysed genetic information obtained from a skeleton found in northeastern Portugal that had been radiocarbon dated to the 11th century by researchers from the University of Coimbra in Portugal. (edu.au)
Given the relatively good preservation of the specimen, the researchers were also able to determine physical traits in the skeleton compatible with Klinefelter Syndrome. (edu.au)
The oldest clinical case of Klinefelter Syndrome has been detected in a 1,000-year-old Portuguese skeleton. (ancient-origins.net)

Prader-Willi syndrome (PWS), described by Prader, Labhart and Willi in 1956, is considered a neurobehavioral disease currently indicated as one of the most frequent cause of chromosome microdeletions 9 . (bvsalud.org)

Klinefelter syndrome may be diagnosed prenatally from fetal cytogenetic analyses performed on chorionic villi or amniocytes. (medscape.com)
A total of 61 cases with suspected genetic disorders were referred for cytogenetic examination. (bvsalud.org)

Klinefelter syndrome is the most common genetic disorder in men. (sharedjourney.com)
1 Rett syndrome (RTT) is thought to be the one of the most common genetic causes of mental retardation in girls, second only to Down syndrome. (neurology.org)
Klinefelter syndrome is the most common genetic cause of non-obstructive azoospermia. (andrologyawareness.eu)

For example, amniocentesis is required to assess fetal lung maturity when fetal respiratory distress syndrome is suspected. (wikisummaries.org)

Dwarfism refers to restricted growth that is due to medical or genetic causes. (medicalnewstoday.com)

Klinefelter syndrome is a rare genetic condition in which a male has an extra X chromosome. (cdc.gov)

Our MFM team is here to care for you through all moments of your pregnancy, including preconception counseling, prenatal ultrasound and genetic counseling, coordination of care with multiple medical specialists, as well as delivery and postpartum care of high-risk pregnancies. (uchealth.org)
It is suggested that the syndrome is due to regression of the testis at the late stage of prenatal development [1]. (scirp.org)
Obstetrical, perinatal and genetic outcomes associated with non-reportable prenatal cell free DNA screening results. (cdc.gov)

People with Klinefelter syndrome are more likely than those without Klinefelter syndrome to have autism spectrum disorder , which is a developmental disorder that affects communication and social interaction. (medlineplus.gov)

Many men, however, find out that they have Klinefelter syndrome only after they try, and fail, to get their partners pregnant. (wdxcyber.com)

A group of international researchers including experts from the University of Adelaide has uncovered evidence of a genetic condition that gives men an extra X chromosome, reporting the oldest clinical case of Klinefelter Syndrome to date. (edu.au)

Some men may have genetic disorders like Klinefelter syndrome , which could lead to fertility issues. (columbia.edu)
There are many factors, including genetic factors, that affect the fertility of women and men. (genosalut.com)
How are genetic causes of male fertility diagnosed? (andrologyawareness.eu)

If there are signs of premature ovarian failure (POF) in the woman, a test is performed to determine if she is a carrier of Fragile X Syndrome . (genosalut.com)

Adolescent male with gynecomastia and Klinefelter syndrome. (medscape.com)

Children with Klinefelter syndrome may have low muscle tone (hypotonia), difficulty coordinating movements, and mild delays of certain developmental skills, such as rolling over or walking. (medlineplus.gov)
Since then, however, developments in microsurgical techniques and advances in artificial reproductive technologies (ART) have enabled over 50% of men with Klinefelter syndrome to sire their own children. (medscape.com)
Physicians should provide parents with information from unbiased follow-up studies of children with Klinefelter syndrome. (medscape.com)

Achondroplasia is a rare genetic disorder that causes short stature and bowed legs. (medicalnewstoday.com)

Anatomy3

Diseases12

Chemicals and Drugs1

Analytical, Diagnostic and Therapeutic Techniques and Equipment4

Psychiatry and Psychology1

Phenomena and Processes6

Anthropology, Education, Sociology and Social Phenomena1

Named Groups1

Klinefelter's17

Males17

Hypogonadism13

Chromosomes5

Phenotype5

Harry Klinefelter1

Seen in Klinefelter syndrome1

Boys with Klinefelter syndrome2

Symptoms4

Infertile3

Infertility19

Abnormalities7

Testes7

Diagnosis6

19421

Testosterone4

Endocrinologist1

Abnormal2

Testicles1

Sperm7

Karyotype5

Hereditary2

Prevalence2

Congenital1

Occurs when a boy1

Mutations12

Fetuses3

Genes2

Condition that affects2

Turner4

Diseases1

Assigned male1

Mutation3

Rarely2

Tend1

Testicular1

ICSI1

Phenotypic2

Births3

Individuals1

Skeleton3

Microdeletions1

Cytogenetic2

Common genetic3

Fetal1

Refers1

Rare genetic condition1

Prenatal3

Affects1

Partners pregnant1

Clinical case1

Fertility3

Fragile X Syndro1

Adolescent1

Children3

Disorder that causes1