Materiały źródłowe

• #1 Clinical features, diagnosis, and management of Klinefelter syndrome – UpToDate

  https://www.uptodate.com/contents/clinical-features-diagnosis-and-management-of-klinefelter-syndrome/print

  Klinefelter syndrome is the most common cause of primary hypogonadism. The majority of males with Klinefelter syndrome are not diagnosed. Many of these missed diagnoses are likely due to the failure of clinicians to recognize the symptoms and signs of hypogonadism and the distinctive phenotype (eg, small, very firm testes) of classic Klinefelter syndrome. […] Only 25 to 50 percent of patients with Klinefelter syndrome are diagnosed during their lifetimes. […] This underdiagnosis is likely due to clinicians’ lack of awareness of the variable clinical features of Klinefelter syndrome, as well as inexperience assessing testicular volumes.

• #2 Clinical features, diagnosis, and management of Klinefelter syndrome – UpToDate

  https://www.uptodate.com/contents/clinical-features-diagnosis-and-management-of-klinefelter-syndrome

  Clinical features, diagnosis, and management of Klinefelter syndrome […] The majority of males with Klinefelter syndrome are not diagnosed. […] Only 25 to 50 percent of patients with Klinefelter syndrome are diagnosed during their lifetimes. […] This underdiagnosis is likely due to clinicians’ lack of awareness of the variable clinical features of Klinefelter syndrome, as well as inexperience assessing testicular volumes. […] Karyotype […] Prenatal and newborn diagnosis […] Prepubertal and peripubertal diagnosis […] Adult diagnosis.

• #3 Klinefelter syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/klinefelter-syndrome/

  Klinefelter syndrome, also called 47,XXY, is a chromosomal condition that affects male development. […] Researchers believe that up to 65 percent of people with Klinefelter syndrome are never diagnosed. […] Individuals with Klinefelter syndrome typically have small testes that produce a reduced amount of testosterone (primary testicular insufficiency). […] 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. […] Klinefelter syndrome affects about 1 in 650 male newborns. […] Klinefelter syndrome is a sex chromosome disorder that results from the presence of an extra X chromosome in cells.

• #4 How do health care providers diagnose Klinefelter syndrome (KS)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/diagnosed

  The only way to confirm the presence of an extra chromosome is by a karyotype test. A health care provider will take a small blood or skin sample and send it to a laboratory, where a technician inspects the cells under a microscope to find the extra chromosome. A karyotype test shows the same results at any time in a persons life. […] Tests for chromosome disorders, including KS, may be done before birth. To obtain tissue or liquid for this test, a pregnant woman undergoes chorionic villus sampling or amniocentesis. These types of prenatal testing carry a small risk for miscarriage and are not routinely conducted unless the woman has a family history of chromosomal disorders, has other medical problems, or is above 35 years of age. […] Few newborns and boys are tested for or diagnosed with KS.

• #5 Klinefelter Syndrome: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/21116-klinefelter-syndrome

  Healthcare providers may diagnose Klinefelter syndrome during: […] Your provider may test for Klinefelter if you have low testosterone or fertility issues (trouble getting pregnant with your partner). […] The goal of testing is to detect and identify an extra X chromosome. The most common way to do this is with a karyotype test, which is a blood test that tells your provider the number and types of chromosomes present. Providers can use karyotyping on children, adults and even in fetuses before birth. […] Healthcare providers recommend neuropsychological testing for children with Klinefelter syndrome. Its best to test them at the time of diagnosis and again every few years. This can help identify any learning challenges and guide educators on how to help your child succeed. […] People with Klinefelter syndrome are born with it. Because its a part of your genetic code, you cant cure it or get rid of it. But you can manage your symptoms with treatment and guidance from your healthcare provider.

• #6 Klinefelter Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK482314/

  Klinefelter syndrome is a genetic condition characterized by the presence of 2 or more X chromosomes in a phenotypic male. […] Current diagnostic and management recommendations are also discussed. […] Identify the clinical signs and diagnostic features indicative of Klinefelter syndrome. […] Select the appropriate diagnostic tools to evaluate Klinefelter syndrome. […] A definitive diagnosis of Klinefelter syndrome typically involves prenatal or postnatal karyotype analysis or chromosomal microarray testing. […] Confirmation by karyotyping requires analysis of at least 20 cultured metaphase lymphocytes. […] Noninvasive prenatal testing for cell-free fetal DNA can detect sex chromosome abnormalities. […] Published positive predictive values for identifying Klinefelter syndrome through noninvasive prenatal testing range from 67% to 78%.

• #7 Klinefelter Syndrome Workup: Laboratory Studies, Imaging Studies, Histologic Findings

  https://emedicine.medscape.com/article/945649-workup

  Karyotype analysis on peripheral blood lymphocytes, the XCAT-KS buccal swab test, fluorescence in-situ hybridization (FISH), and microarrays are options for postnatal diagnostic testing. […] The 47,XXY karyotype is found in 80-90% of males who are diagnosed with Klinefelter syndrome. About 10% of patients have mosaicism (more than one cell line): 46,XY/47,XXY; 46,XY/48,XXXY; and 47,XXY/48,XXXY. Remaining cases include karyotype variants such as 48,XXYY; 48,XXXY; 49,XXXYY; and 49,XXXXY. About 1% of cases are due to a structurally abnormal X in addition to a normal X and Y, such as 47,X,i(Xq)Y and 47,X,del(X)Y. […] This is a simple and reliable screening method for the diagnosis of patients with Klinefelter syndrome or other chromosomal disorders involving an aberrant number of X chromosomes.

• #8 Klinefelter Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK482314/

  Klinefelter syndrome is a genetic condition characterized by the presence of 2 or more X chromosomes in a phenotypic male. […] Current diagnostic and management recommendations are also discussed. […] Identify the clinical signs and diagnostic features indicative of Klinefelter syndrome. […] Select the appropriate diagnostic tools to evaluate Klinefelter syndrome. […] A definitive diagnosis of Klinefelter syndrome typically involves prenatal or postnatal karyotype analysis or chromosomal microarray testing. […] Confirmation by karyotyping requires analysis of at least 20 cultured metaphase lymphocytes. […] Noninvasive prenatal testing for cell-free fetal DNA can detect sex chromosome abnormalities. […] Published positive predictive values for identifying Klinefelter syndrome through noninvasive prenatal testing range from 67% to 78%.

• #9 About Klinefelter Syndrome

  https://www.genome.gov/Genetic-Disorders/Klinefelter-Syndrome

  School-age children may be diagnosed if they are referred to a doctor to evaluate learning disabilities. The diagnosis may also be considered in the adolescent male when puberty is not progressing as expected. Adult males may come to the doctor because of infertility. […] A chromosomal analysis (karyotype) is used to confirm the diagnosis. In this procedure, a small blood sample is drawn. White blood cells are then separated from the sample, mixed with tissue culture medium, incubated, and checked for chromosomal abnormalities, such as an extra X chromosome. […] The chromosome analysis looks at a number of cells, usually at least 20, which allows for the diagnosis of genetic conditions in both the full and mosaic state. In some cases, low-level mosaicism may be missed. However, if mosaicism is suspected (based on hormone levels, sperm counts, or physical characteristics), additional cells can be analyzed from within the same blood draw.

• #10 Klinefelter syndrome – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/klinefelter-syndrome/diagnosis-treatment/drc-20353954

  To diagnose Klinefelter syndrome, a healthcare professional does a physical exam and asks questions about symptoms and health. This may include looking at the genital area and chest and talking about development and functioning. […] Main tests used to diagnose Klinefelter syndrome are: […] Hormone testing. Blood tests can show hormone level changes that are a sign of Klinefelter syndrome. […] Chromosome analysis. Also called a karyotype, this test can confirm a diagnosis of Klinefelter syndrome. A blood sample is sent to the lab to check the shape and number of chromosomes. […] Healthcare professionals sometimes diagnose Klinefelter syndrome before birth when testing is done for another reason. The syndrome can be found in pregnancy during a procedure to look at fetal cells taken from the fluid around the baby or from the placenta. These tests may be done for pregnant people who are older than age 35 or have a family history of genetic conditions. […] Klinefelter syndrome may be suspected during a noninvasive prenatal screening blood test. This test looks at cell-free DNA in the pregnant person’s blood sample. To confirm the diagnosis, more-invasive prenatal testing is needed.

• #11 How do health care providers diagnose Klinefelter syndrome (KS)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/diagnosed

  The only way to confirm the presence of an extra chromosome is by a karyotype test. A health care provider will take a small blood or skin sample and send it to a laboratory, where a technician inspects the cells under a microscope to find the extra chromosome. A karyotype test shows the same results at any time in a persons life. […] Tests for chromosome disorders, including KS, may be done before birth. To obtain tissue or liquid for this test, a pregnant woman undergoes chorionic villus sampling or amniocentesis. These types of prenatal testing carry a small risk for miscarriage and are not routinely conducted unless the woman has a family history of chromosomal disorders, has other medical problems, or is above 35 years of age. […] Few newborns and boys are tested for or diagnosed with KS.

• #12 Understanding prenatal diagnosis of Klinefelter syndrome | Healthy Male

  https://healthymale.org.au/health-article/prenatal-screening-diagnosis-klinefelter-syndrome-genetic-counselling

  Klinefelter syndrome is diagnosed by examining someones karyotype, which is done using a small sample of blood or other tissue. […] Testing for 47, XXY during pregnancy is optional and should be discussed with your doctor, midwife, or genetic counsellor. […] Chorionic villus sampling (CVS) or amniocentesis can diagnose Klinefelter syndrome. These diagnostic tests provide a more accurate result as they are generally directly testing the fetus.

• #13 Klinefelter Syndrome Workup: Laboratory Studies, Imaging Studies, Histologic Findings

  https://emedicine.medscape.com/article/945649-workup

  Klinefelter syndrome may be diagnosed prenatally from fetal cytogenetic analyses performed on chorionic villi or amniocytes. Noninvasive prenatal tests (NIPT) that analyze cell-free fetal DNA circulating in maternal blood are also available. […] 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. These include the following: Infants – Hypospadias, small phallus, cryptorchidism (undescended testes); Toddlers – Developmental delay (especially expressive language skills), hypotonia; Elementary school-aged boys – Language delay (especially expressive language skills), learning disabilities, delayed social development, pervasive developmental disorder (PDD-NOS), mild autism spectrum disorder, attention deficit disorder (ADD)/attention deficit hyperactivity disorder (ADHD); Older boys and adolescent males – Tall stature; delayed or incomplete pubertal development with eunuchoid body habitus; gynecomastia; small, firm testes; sparse body hair; Adults – Testicular failure, significantly diminished or absent sperm count and/or breast malignancy, dental problems, delay in vocational success, anxiety and/or depression, mood disorders.

• #14 Klinefelter Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK482314/

  Klinefelter syndrome is a genetic condition characterized by the presence of 2 or more X chromosomes in a phenotypic male. […] Current diagnostic and management recommendations are also discussed. […] Identify the clinical signs and diagnostic features indicative of Klinefelter syndrome. […] Select the appropriate diagnostic tools to evaluate Klinefelter syndrome. […] A definitive diagnosis of Klinefelter syndrome typically involves prenatal or postnatal karyotype analysis or chromosomal microarray testing. […] Confirmation by karyotyping requires analysis of at least 20 cultured metaphase lymphocytes. […] Noninvasive prenatal testing for cell-free fetal DNA can detect sex chromosome abnormalities. […] Published positive predictive values for identifying Klinefelter syndrome through noninvasive prenatal testing range from 67% to 78%.

• #15 Klinefelter (XXY) Syndrome | Condition | Unity Screen

  https://www.unityscreen.com/conditions/klinefelter-syndrome

  UNITY Aneuploidy Screen provides a non-invasive prenatal screening designed to provide an assessment of your baby’s chance for Klinefelter syndrome and other chromosomal conditions. […] This Klinefelter syndrome NIPT is a type of prenatal screening that can be performed as early as 9 weeks into pregnancy. […] If your pregnancy is considered high-risk, your healthcare provider will discuss additional Klinefelter syndrome genetic testing options that can confirm or rule out the diagnosis. […] The American College of Obstetricians and Gynecologists (ACOG) recommends that all pregnant people be offered screening for chromosomal abnormalities, including Klinefelter syndrome. […] It’s important to discuss the test results with a healthcare provider to understand what they mean and decide how you would like to move forward with possible next steps. […] If UNITY Aneuploidy Screen for Klinefelter syndrome results show a higher chance for an affected baby, your doctor or a genetic counselor will be able to review them in detail and discuss further prenatal testing for Klinefelter syndrome if desired, or postnatal confirmation.

• #16 How do health care providers diagnose Klinefelter syndrome (KS)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/diagnosed

  The only way to confirm the presence of an extra chromosome is by a karyotype test. A health care provider will take a small blood or skin sample and send it to a laboratory, where a technician inspects the cells under a microscope to find the extra chromosome. A karyotype test shows the same results at any time in a persons life. […] Tests for chromosome disorders, including KS, may be done before birth. To obtain tissue or liquid for this test, a pregnant woman undergoes chorionic villus sampling or amniocentesis. These types of prenatal testing carry a small risk for miscarriage and are not routinely conducted unless the woman has a family history of chromosomal disorders, has other medical problems, or is above 35 years of age. […] Few newborns and boys are tested for or diagnosed with KS.

• #17 Klinefelter syndrome – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/klinefelter-syndrome/diagnosis-treatment/drc-20353954

  To diagnose Klinefelter syndrome, a healthcare professional does a physical exam and asks questions about symptoms and health. This may include looking at the genital area and chest and talking about development and functioning. […] Main tests used to diagnose Klinefelter syndrome are: […] Hormone testing. Blood tests can show hormone level changes that are a sign of Klinefelter syndrome. […] Chromosome analysis. Also called a karyotype, this test can confirm a diagnosis of Klinefelter syndrome. A blood sample is sent to the lab to check the shape and number of chromosomes. […] Healthcare professionals sometimes diagnose Klinefelter syndrome before birth when testing is done for another reason. The syndrome can be found in pregnancy during a procedure to look at fetal cells taken from the fluid around the baby or from the placenta. These tests may be done for pregnant people who are older than age 35 or have a family history of genetic conditions. […] Klinefelter syndrome may be suspected during a noninvasive prenatal screening blood test. This test looks at cell-free DNA in the pregnant person’s blood sample. To confirm the diagnosis, more-invasive prenatal testing is needed.

• #18 How do health care providers diagnose Klinefelter syndrome (KS)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/diagnosed

  Although newborns in the United States are screened for some conditions, they are not screened for XXY or other sex chromosome differences. […] In childhood, symptoms can be subtle and overlooked easily. Only about 1 in 10 males with KS are diagnosed before puberty. […] Sometimes, visiting a health care provider will not produce a diagnosis. Some symptoms, such as delayed early speech, might be treated successfully without further testing for KS. […] Most XXY diagnoses occur at puberty or in adulthood. […] Puberty brings a surge in diagnoses as some males (or their parents) become concerned about slow testes growth or breast development and consult a health care provider. […] Many men are diagnosed for the first time in fertility clinics. Among men seeking help for infertility, about 15% have KS.

• #19 Klinefelter Syndrome Workup: Laboratory Studies, Imaging Studies, Histologic Findings

  https://emedicine.medscape.com/article/945649-workup

  Klinefelter syndrome may be diagnosed prenatally from fetal cytogenetic analyses performed on chorionic villi or amniocytes. Noninvasive prenatal tests (NIPT) that analyze cell-free fetal DNA circulating in maternal blood are also available. […] 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. These include the following: Infants – Hypospadias, small phallus, cryptorchidism (undescended testes); Toddlers – Developmental delay (especially expressive language skills), hypotonia; Elementary school-aged boys – Language delay (especially expressive language skills), learning disabilities, delayed social development, pervasive developmental disorder (PDD-NOS), mild autism spectrum disorder, attention deficit disorder (ADD)/attention deficit hyperactivity disorder (ADHD); Older boys and adolescent males – Tall stature; delayed or incomplete pubertal development with eunuchoid body habitus; gynecomastia; small, firm testes; sparse body hair; Adults – Testicular failure, significantly diminished or absent sperm count and/or breast malignancy, dental problems, delay in vocational success, anxiety and/or depression, mood disorders.

• #20 Klinefelter Syndrome Workup: Laboratory Studies, Imaging Studies, Histologic Findings

  https://emedicine.medscape.com/article/945649-workup

  Klinefelter syndrome may be diagnosed prenatally from fetal cytogenetic analyses performed on chorionic villi or amniocytes. Noninvasive prenatal tests (NIPT) that analyze cell-free fetal DNA circulating in maternal blood are also available. […] 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. These include the following: Infants – Hypospadias, small phallus, cryptorchidism (undescended testes); Toddlers – Developmental delay (especially expressive language skills), hypotonia; Elementary school-aged boys – Language delay (especially expressive language skills), learning disabilities, delayed social development, pervasive developmental disorder (PDD-NOS), mild autism spectrum disorder, attention deficit disorder (ADD)/attention deficit hyperactivity disorder (ADHD); Older boys and adolescent males – Tall stature; delayed or incomplete pubertal development with eunuchoid body habitus; gynecomastia; small, firm testes; sparse body hair; Adults – Testicular failure, significantly diminished or absent sperm count and/or breast malignancy, dental problems, delay in vocational success, anxiety and/or depression, mood disorders.

• #21 Klinefelter Syndrome (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/klinefelter-syndrome.html

  Klinefelter syndrome is a fairly common genetic condition found in males only. […] Since Klinefelter syndrome can be hard to notice, many parents don’t know their son has it until he grows up or shows delays in puberty. Sometimes, parents who are worried about their son’s development consult a doctor, and the diagnosis reveals Klinefelter syndrome. This can help, because the earlier a boy is diagnosed with Klinefelter syndrome, the more effective the treatments usually are. […] To diagnose Klinefelter syndrome, doctors usually begin by asking about any learning or behavior issues and examining the boy’s testicles and body proportions. They’ll check a blood sample for the extra X chromosome. Before birth, the condition may be found through chromosomal analysis or noninvasive prenatal testing (NIPT). NIPT is done on the fluid surrounding the fetus, tissue from the placenta, or the blood from the mother. After birth, doctors can make a diagnosis with a chromosome karyotype test or microarray test from the baby. Doctors also can do hormone testing, usually by taking a blood sample to check for unusual hormone levels.

• #22 Klinefelter Syndrome: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/21116-klinefelter-syndrome

  Healthcare providers may diagnose Klinefelter syndrome during: […] Your provider may test for Klinefelter if you have low testosterone or fertility issues (trouble getting pregnant with your partner). […] The goal of testing is to detect and identify an extra X chromosome. The most common way to do this is with a karyotype test, which is a blood test that tells your provider the number and types of chromosomes present. Providers can use karyotyping on children, adults and even in fetuses before birth. […] Healthcare providers recommend neuropsychological testing for children with Klinefelter syndrome. Its best to test them at the time of diagnosis and again every few years. This can help identify any learning challenges and guide educators on how to help your child succeed. […] People with Klinefelter syndrome are born with it. Because its a part of your genetic code, you cant cure it or get rid of it. But you can manage your symptoms with treatment and guidance from your healthcare provider.

• #23 Klinefelter Syndrome Workup: Laboratory Studies, Imaging Studies, Histologic Findings

  https://emedicine.medscape.com/article/945649-workup

  Klinefelter syndrome may be diagnosed prenatally from fetal cytogenetic analyses performed on chorionic villi or amniocytes. Noninvasive prenatal tests (NIPT) that analyze cell-free fetal DNA circulating in maternal blood are also available. […] 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. These include the following: Infants – Hypospadias, small phallus, cryptorchidism (undescended testes); Toddlers – Developmental delay (especially expressive language skills), hypotonia; Elementary school-aged boys – Language delay (especially expressive language skills), learning disabilities, delayed social development, pervasive developmental disorder (PDD-NOS), mild autism spectrum disorder, attention deficit disorder (ADD)/attention deficit hyperactivity disorder (ADHD); Older boys and adolescent males – Tall stature; delayed or incomplete pubertal development with eunuchoid body habitus; gynecomastia; small, firm testes; sparse body hair; Adults – Testicular failure, significantly diminished or absent sperm count and/or breast malignancy, dental problems, delay in vocational success, anxiety and/or depression, mood disorders.

• #24 How do health care providers diagnose Klinefelter syndrome (KS)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/diagnosed

  Although newborns in the United States are screened for some conditions, they are not screened for XXY or other sex chromosome differences. […] In childhood, symptoms can be subtle and overlooked easily. Only about 1 in 10 males with KS are diagnosed before puberty. […] Sometimes, visiting a health care provider will not produce a diagnosis. Some symptoms, such as delayed early speech, might be treated successfully without further testing for KS. […] Most XXY diagnoses occur at puberty or in adulthood. […] Puberty brings a surge in diagnoses as some males (or their parents) become concerned about slow testes growth or breast development and consult a health care provider. […] Many men are diagnosed for the first time in fertility clinics. Among men seeking help for infertility, about 15% have KS.

• #25 Klinefelter Syndrome Workup: Laboratory Studies, Imaging Studies, Histologic Findings

  https://emedicine.medscape.com/article/945649-workup

  Klinefelter syndrome may be diagnosed prenatally from fetal cytogenetic analyses performed on chorionic villi or amniocytes. Noninvasive prenatal tests (NIPT) that analyze cell-free fetal DNA circulating in maternal blood are also available. […] 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. These include the following: Infants – Hypospadias, small phallus, cryptorchidism (undescended testes); Toddlers – Developmental delay (especially expressive language skills), hypotonia; Elementary school-aged boys – Language delay (especially expressive language skills), learning disabilities, delayed social development, pervasive developmental disorder (PDD-NOS), mild autism spectrum disorder, attention deficit disorder (ADD)/attention deficit hyperactivity disorder (ADHD); Older boys and adolescent males – Tall stature; delayed or incomplete pubertal development with eunuchoid body habitus; gynecomastia; small, firm testes; sparse body hair; Adults – Testicular failure, significantly diminished or absent sperm count and/or breast malignancy, dental problems, delay in vocational success, anxiety and/or depression, mood disorders.

• #26 How do health care providers diagnose Klinefelter syndrome (KS)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/diagnosed

  Although newborns in the United States are screened for some conditions, they are not screened for XXY or other sex chromosome differences. […] In childhood, symptoms can be subtle and overlooked easily. Only about 1 in 10 males with KS are diagnosed before puberty. […] Sometimes, visiting a health care provider will not produce a diagnosis. Some symptoms, such as delayed early speech, might be treated successfully without further testing for KS. […] Most XXY diagnoses occur at puberty or in adulthood. […] Puberty brings a surge in diagnoses as some males (or their parents) become concerned about slow testes growth or breast development and consult a health care provider. […] Many men are diagnosed for the first time in fertility clinics. Among men seeking help for infertility, about 15% have KS.

• #27 Klinefelter Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK482314/

  Most adults with Klinefelter syndrome exhibit hypogonadism, although not universally. […] The initial evaluation of Klinefelter syndrome often involves assessing for hypogonadism or infertility. […] Hypogonadism, infertility, and small, firm testes define the classic adult presentation. Confirmatory testing requires karyotyping.

• #28 Klinefelter Syndrome Workup: Laboratory Studies, Imaging Studies, Histologic Findings

  https://emedicine.medscape.com/article/945649-workup

  A complete hormonal evaluation includes plasma levels of FSH, LH, testosterone, estradiol, prolactin, and insulin-like growth factor (IGF)1. Young males (aged 12-14 years) tend to have high plasma FSH, LH, and estradiol levels and low plasma testosterone levels. […] Forty-seven percent of men with Klinefelter syndrome have adrenal steroidogenic deficiency, so cortisol levels should be routinely measured. […] Bone density screening is recommended because androgen deficiency significantly increases the risk of osteopenia and osteoporosis. […] Men with Klinefelter syndrome have an increased risk of deep vein thrombosis and pulmonary embolism. Consider screening men with 47,XXY or other sex chromosomal aneuploidies for genetic mutations that lead to hypercoagulability states.

• #29 Klinefelter’s Syndrome: Causes, Symptoms, and Treatment

  https://patient.info/mens-health/klinefelters-syndrome-leaflet

  Other blood tests may also be done if your doctor suspects that you may have KS. These include hormone blood tests. For example, if you have KS, towards the end of puberty and in adulthood your levels of testosterone in your blood will be low. Other hormone levels – luteinising hormone and follicle-stimulating hormone – tend to be higher than normal.

• #30 Klinefelter Syndrome Workup: Laboratory Studies, Imaging Studies, Histologic Findings

  https://emedicine.medscape.com/article/945649-workup

  A complete hormonal evaluation includes plasma levels of FSH, LH, testosterone, estradiol, prolactin, and insulin-like growth factor (IGF)1. Young males (aged 12-14 years) tend to have high plasma FSH, LH, and estradiol levels and low plasma testosterone levels. […] Forty-seven percent of men with Klinefelter syndrome have adrenal steroidogenic deficiency, so cortisol levels should be routinely measured. […] Bone density screening is recommended because androgen deficiency significantly increases the risk of osteopenia and osteoporosis. […] Men with Klinefelter syndrome have an increased risk of deep vein thrombosis and pulmonary embolism. Consider screening men with 47,XXY or other sex chromosomal aneuploidies for genetic mutations that lead to hypercoagulability states.

• #31 Klinefelter’s Syndrome Association (KSA)

  https://www.ksa-uk.net/for-adults/diagnosis-adults/

  High LH, FSH, SHGB and low testosterone levels indicate that the testes are producing little or no testosterone. […] A genetic blood test is needed to confirm the diagnosis. […] The type of hypogonadism which occurs in KS/XXY is called primary hypogonadism i.e. it is caused by a problem with the testicles themselves. […] Trigger times for diagnosis: Prenatally, during pregnancy. If screening was carried out for Down’s Syndrome etc. the extra chromosome may be discovered. […] KS/XXY babies often have uni- or bi-lateral cryptorchidism (undescended testicles). […] Currently, there is no ante-natal screening programme for KS/XXY. […] Many cases of KS/XXY are diagnosed following infertility investigations.

• #32 Klinefelter’s Syndrome: XXY Males

  https://www.uspharmacist.com/article/klinefelters-syndrome-xxy-males

  Endocrine studies primarily illustrate hyper gonado tropic hypogonadism secondary to testicular failure. […] In males with KS, basal serum concentrations of LH and FSH are moderately elevated. […] Serum testosterone concentration is usually decreased (300 ng/dL in adults), whereas the normal range in adult males is 350 to 1,030 ng/dL. […] The human chorionic gonadotropin (hCG) stimulation test typically shows a low to subnormal testosterone response, with little or no elevation of serum testosterone concentration after intramuscular (IM) injection of hCG.

• #33 Klinefelter’s Syndrome Association (KSA)

  https://www.ksa-uk.net/for-adults/diagnosis-adults/

  KS/XXY affects around 1 in 600 males, but many medical practitioners mistakenly think it is so rare that they will never come across it. […] Early diagnosis and a good understanding of the implications of KS/XXY can improve life for both the person with the condition and for those with whom they have close contact. […] A timely diagnosis can make a huge difference to life experiences. […] Around 75% will never get a diagnosis. […] The KSA is trying to change the perception that KS/XXY is very rare. […] Initial tests if KS/XXY suspected: Blood tests are needed to check levels of: lutenising hormone (LH), follicle stimulating hormone (FSH), sex hormone binding globulin (SHBG), testosterone (T). […] Tests for testosterone levels should be taken early in the morning (around 8.00 am to 9.00 am).

• #34 Klinefelter Syndrome Workup: Laboratory Studies, Imaging Studies, Histologic Findings

  https://emedicine.medscape.com/article/945649-workup

  A complete hormonal evaluation includes plasma levels of FSH, LH, testosterone, estradiol, prolactin, and insulin-like growth factor (IGF)1. Young males (aged 12-14 years) tend to have high plasma FSH, LH, and estradiol levels and low plasma testosterone levels. […] Forty-seven percent of men with Klinefelter syndrome have adrenal steroidogenic deficiency, so cortisol levels should be routinely measured. […] Bone density screening is recommended because androgen deficiency significantly increases the risk of osteopenia and osteoporosis. […] Men with Klinefelter syndrome have an increased risk of deep vein thrombosis and pulmonary embolism. Consider screening men with 47,XXY or other sex chromosomal aneuploidies for genetic mutations that lead to hypercoagulability states.

• #35 Klinefelter Syndrome Workup: Laboratory Studies, Imaging Studies, Histologic Findings

  https://emedicine.medscape.com/article/945649-workup

  A complete hormonal evaluation includes plasma levels of FSH, LH, testosterone, estradiol, prolactin, and insulin-like growth factor (IGF)1. Young males (aged 12-14 years) tend to have high plasma FSH, LH, and estradiol levels and low plasma testosterone levels. […] Forty-seven percent of men with Klinefelter syndrome have adrenal steroidogenic deficiency, so cortisol levels should be routinely measured. […] Bone density screening is recommended because androgen deficiency significantly increases the risk of osteopenia and osteoporosis. […] Men with Klinefelter syndrome have an increased risk of deep vein thrombosis and pulmonary embolism. Consider screening men with 47,XXY or other sex chromosomal aneuploidies for genetic mutations that lead to hypercoagulability states.

• #36 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Klinefelter-Syndrome-Diagnosis.aspx

  A diagnosis of Klinefelter syndrome can be made based on a number of physical characteristics and symptoms, and confirmed with diagnostic chromosomal analysis. […] Unlike several other congenital conditions, there is currently no screening of newborn babies with Klinefelter syndrome in the United States. […] The only way to confirm the presence of an additional X chromosome and the diagnosis of Klinefelter syndrome is to conduct a karyotype test to analyze the sex chromosomes. […] Blood tests may also be required during the diagnostic process to determine the hormone levels in the blood. […] Examination of the semen can be useful, particularly for men who are struggling with infertility and having difficulty conceiving a child.

• #37 Klinefelter syndrome – London Andrology – Men’s Health

  https://londonandrology.com/klinefelter-syndrome/

  Klinefelter syndrome is diagnosed via blood tests that analyse chromosomes and test hormone function. […] The combination of small firm testes and low sperm count (or absence of sperm in semen) indicates KS. The main investigations are blood tests that will analyse chromosomes and look at hormone function. Investigations should be carried out to check for other causes of small firm testes and low sperm count. Currently, there is no screening program for KS, although it may be picked up prenatally (before birth) as part of screening for other chromosome abnormalities.

• #38 Klinefelter Syndrome Workup: Laboratory Studies, Imaging Studies, Histologic Findings

  https://emedicine.medscape.com/article/945649-workup

  Klinefelter syndrome may be diagnosed prenatally from fetal cytogenetic analyses performed on chorionic villi or amniocytes. Noninvasive prenatal tests (NIPT) that analyze cell-free fetal DNA circulating in maternal blood are also available. […] 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. These include the following: Infants – Hypospadias, small phallus, cryptorchidism (undescended testes); Toddlers – Developmental delay (especially expressive language skills), hypotonia; Elementary school-aged boys – Language delay (especially expressive language skills), learning disabilities, delayed social development, pervasive developmental disorder (PDD-NOS), mild autism spectrum disorder, attention deficit disorder (ADD)/attention deficit hyperactivity disorder (ADHD); Older boys and adolescent males – Tall stature; delayed or incomplete pubertal development with eunuchoid body habitus; gynecomastia; small, firm testes; sparse body hair; Adults – Testicular failure, significantly diminished or absent sperm count and/or breast malignancy, dental problems, delay in vocational success, anxiety and/or depression, mood disorders.

• #39 Klinefelter syndrome – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-us/3000332

  Klinefelter syndrome (KS) is a chromosome variation affecting around 1 in 660 males in which an extra X chromosome is present, resulting in a genetic karyotype of 47,XXY. Karyotype analysis is required for definitive diagnosis. […] Symptoms and signs of KS may be subtle and the majority of affected individuals function fairly normally and are never diagnosed. Among those who are diagnosed, this most commonly happens following evaluation for male infertility, although antenatal diagnosis is becoming increasingly common. […] Key diagnostic factors include infertility, failure to complete pubertal maturation, small testes, expressive speech delay in early childhood, micropenis, and cryptorchidism. […] 1st investigations to order include chromosomal karyotype, serum total testosterone, and serum LH/FSH.

• #40 Klinefelter syndrome A general practice perspective

  https://www.racgp.org.au/afp/2014/january-february/klinefelter-syndrome

  Klinefelter syndrome (KS) is a common genetic condition affecting one in 450 men, but is only diagnosed in fewer than half of those affected. […] Currently, KS is significantly under-diagnosed: only 39% of men with KS receive a diagnosis postnatally. Even for those who are diagnosed, only 10% will receive their diagnosis before puberty. This can be attributed to the difficulty in diagnosing KS, due to the heterogeneous phenotypic presentation and the lack of awareness of KS. […] Once the diagnosis of KS is suspected, it is easily confirmed by a simple chromosome test. […] General practitioners can play a major part in improving health outcomes for men with KS through improved detection amongst their male patients. […] KS can be diagnosed at any age. Clinical features suggestive of KS are listed in Table 1, and clinical suspicion should be raised whenever two or more of these features are present.

• #41 Klinefelter syndrome A general practice perspective

  https://www.racgp.org.au/afp/2014/january-february/klinefelter-syndrome

  Klinefelter syndrome (KS) is a common genetic condition affecting one in 450 men, but is only diagnosed in fewer than half of those affected. […] Currently, KS is significantly under-diagnosed: only 39% of men with KS receive a diagnosis postnatally. Even for those who are diagnosed, only 10% will receive their diagnosis before puberty. This can be attributed to the difficulty in diagnosing KS, due to the heterogeneous phenotypic presentation and the lack of awareness of KS. […] Once the diagnosis of KS is suspected, it is easily confirmed by a simple chromosome test. […] General practitioners can play a major part in improving health outcomes for men with KS through improved detection amongst their male patients. […] KS can be diagnosed at any age. Clinical features suggestive of KS are listed in Table 1, and clinical suspicion should be raised whenever two or more of these features are present.

• #42 Klinefelter syndrome | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/klinefelter-syndrome?lang=us

  Klinefelter syndrome should be suspected in postpubertal males with bilateral symmetrical small testicular volume (usually 3~4 mL in volume) with ultrasonography, usually presented by subfertility/primary infertility or assessment of small testicular size and karyotyping should be recommended. […] However, Klinefelter syndrome is often overlooked or untreated. […] Early recognition and hormonal treatment can improve quality of life and prevent serious complications. Testosterone replacement is mainly for androgen deficiency but does not improve infertility.

• #43 Clinical features, diagnosis, and management of Klinefelter syndrome – UpToDate

  https://www.uptodate.com/contents/clinical-features-diagnosis-and-management-of-klinefelter-syndrome/print

  Klinefelter syndrome is the most common cause of primary hypogonadism. The majority of males with Klinefelter syndrome are not diagnosed. Many of these missed diagnoses are likely due to the failure of clinicians to recognize the symptoms and signs of hypogonadism and the distinctive phenotype (eg, small, very firm testes) of classic Klinefelter syndrome. […] Only 25 to 50 percent of patients with Klinefelter syndrome are diagnosed during their lifetimes. […] This underdiagnosis is likely due to clinicians’ lack of awareness of the variable clinical features of Klinefelter syndrome, as well as inexperience assessing testicular volumes.

• #44 What is the significance of diagnosis in Klinefelter’s Syndrome? – Health Research Authority

  https://www.hra.nhs.uk/planning-and-improving-research/application-summaries/research-summaries/what-is-the-significance-of-diagnosis-in-klinefelters-syndrome/

  Klinefelters Syndrome is a sporadic, non-inherited genetic condition in males where there is the presence of an additional X chromosome. […] Few males are diagnosed, with only an estimated one quarter receiving a diagnosis and approximately 4-10% diagnosed before puberty. […] Low diagnosis rates are attributed in the literature to two factors: low awareness among general practitioners and variability in presentation of the syndrome making diagnosis difficult or incorrect. […] This research will examine if there is any evidence for these assertions by exploring perceptions of diagnosis from three different groups with different perspectives using qualitative interviews and questionnaires. […] This will provided much needed qualitative data about why diagnosis rates are low and the impact this has on affected individuals and their families.

• #45 Klinefelter Syndrome Guide: Causes, Symptoms, Diagnosis, Treatment

  https://www.trted.org/articles/klinefelter-syndrome-the-complete-guide

  Diagnosing Klinefelter syndrome relies mainly on identifying the symptoms attributed to the disease. Diagnosis is confirmed through the detection of an extra X chromosome, which is often done using a karyotype test. […] Without chromosomal testing, diagnosing Klinefelter syndrome remains a significant challenge due to its often mild and variable symptoms. It is estimated that only 10% of males with Klinefelter syndrome are diagnosed before puberty and only 26% are identified in adulthood. […] Sometimes, Klinefelter syndrome is found by accident. For instance, adults seeking treatment for fertility issues may prompt doctors to request a hormone test, as approximately 15% of men seeking help for infertility are found to have Klinefelter syndrome. […] Hence, there is a need for heightened awareness and possibly more comprehensive screening strategies to ensure timely intervention and management of Klinefelter syndrome, given its subtle presentation in many cases.

• #46 Klinefelter syndrome: Symptoms, diagnosis, and treatment

  https://www.medicalnewstoday.com/articles/318194

  A genetic test, known as a karyotype, is required to diagnose KS. […] Only a genetic test can conclusively diagnose KS. The test is called a karyotype. A small skin or blood sample is sent to a laboratory to find out if there is an extra X chromosome. […] Learning difficulties may be the first indication that a child has KS. In adult males, infertility is often the first sign that KS may be present. […] Once puberty has started, a physical examination of the chest and testes can reveal the physical symptoms of KS, such as small testes and enlarged breasts. […] Further investigation may include a sperm count for reduced fertility and a hormone test for reduced testosterone. […] KS may be severely under-diagnosed because doctors overlook some of its symptoms, which are similar to the symptoms of other disorders. […] Only 10 percent of cases are diagnosed in childhood, and it is thought that only about 25 percent of all males with KS are ever diagnosed. On average, males with KS are not diagnosed until their mid-30s.

• #47 Klinefelter Syndrome: Symptoms, Genetics, and Treatment

  https://www.verywellhealth.com/klinefelter-syndrome-2328931

  At the current time, the average time of diagnosis is in the mid 30s, and it’s thought that only around a fourth of men who have the syndrome are ever officially diagnosed. […] As noted, many men do not realize they have Klinefelter until they are trying to start a family of their own, as men with the condition do not produce sperm and are therefore infertile. Genetic tests will show the presence of an extra X chromosome and are the most effective way to diagnose Klinefelter. […] It’s thought that Klinefelter syndrome is underdiagnosed, with an estimate that only 25 percent of men with the syndrome receiving a diagnosis (since it is often diagnosed during an infertility examination).

• #48

  https://link.springer.com/article/10.1007/s40618-024-02302-9

  Klinefelter syndrome (KS) is the most prevalent sex chromosome disorder among males. The communication of the KS diagnosis holds significant implications for the diagnosis’s acceptance. […] This study aims to investigate the most suitable timing, content, and healthcare professionals (HCPs) according to KS patients suggestions for conveying the diagnosis, analyzing the impact of communicating the KS diagnosis on patients and their reception of the communication in real-life situations. […] Most patients with Klinefelter syndrome reported that earlier communication would have been beneficial. Communication before the age of 18 and by parents increased the likelihood of overcoming negative consequences and relying on psychological support. […] To mitigate the adverse effects of poorly timed and inadequately delivered communication, typically by a single person, it is advisable that such communication be carried out at the onset of adolescence by an interdisciplinary team of HCPs (including psychologists, geneticists, endocrinologists) and parents.

• #49

  https://link.springer.com/article/10.1007/s40618-024-02302-9

  A fundamental moment in the lives of individuals with KS is the communication of the diagnosis, especially in young patients. […] Men diagnosed with KS later in life complained of late diagnosis and reported similar or more distressing problems than those diagnosed at a younger age, suggesting that they would benefit from early diagnosis and psychological intervention. […] Parents must then decide when and how to disclose this information to their son. […] For patients diagnosed after birth, Tremblay and colleagues (2016) propose a personalized approach, whereas Aliberti and colleagues (2022) advocate for a team of professionals, including an endocrinologist, psychologist, geneticist, and parents, to communicate the diagnosis before the age of 18. […] The communication of a diagnosis brought about discomfort predominantly associated with infertility, metabolic conditions, sexual traits, and sexuality.

• #50

  https://link.springer.com/article/10.1007/s40618-024-02302-9

  The communication of the diagnosis is often delayed due to many parents feeling unable to share the information with their child: this conflicts with the desires of patients, who would prefer to receive such diagnostic communication earlier in life, during adolescence or even pre-adolescence. […] Our findings indicate that when the diagnosis is disclosed by parents before the age of 18, there is a greater likelihood of reporting the usefulness of psychological support. […] Even if the diagnosis is given by a professional, a very important point is the completeness of the information that the patients receive, because a very high percentage said that the person who gives them the diagnosis should give them a further explanation. […] Although the acceptance of the diagnosis does not correlate with the perception of psychological support usefulness, a large proportion of participants reported that they would have liked psychological support, but only a small proportion of participants received it. […] The significant connections between these perceptions and the adverse emotions and concerns about the physical and psychological effects that emerge after diagnosis emphasize the importance of providing psychological support to patients when necessary.

• #51

  https://link.springer.com/article/10.1007/s40618-024-02302-9

  A fundamental moment in the lives of individuals with KS is the communication of the diagnosis, especially in young patients. […] Men diagnosed with KS later in life complained of late diagnosis and reported similar or more distressing problems than those diagnosed at a younger age, suggesting that they would benefit from early diagnosis and psychological intervention. […] Parents must then decide when and how to disclose this information to their son. […] For patients diagnosed after birth, Tremblay and colleagues (2016) propose a personalized approach, whereas Aliberti and colleagues (2022) advocate for a team of professionals, including an endocrinologist, psychologist, geneticist, and parents, to communicate the diagnosis before the age of 18. […] The communication of a diagnosis brought about discomfort predominantly associated with infertility, metabolic conditions, sexual traits, and sexuality.

• #52 WCM Klinefelter Syndrome Care Center | Patient Care

  https://weillcornell.org/wcm-klinefelter-syndrome-care-center

  The Weill Cornell Medicine (WCM) Klinefelter Syndrome Care Center offers multidisciplinary care for children and adults with Klinefelter syndrome. This program brings together a broad team of experts to offer our patients comprehensive evaluation and subspecialty care. […] We see families at all ages for genetic counseling and coordination of care. With advances in prenatal screening, families may be referred for genetic counseling and get clarification about a new diagnosis. […] From adolescence to young adulthood, our endocrinologists and urologists can individualize care and treatment to meet specific needs, such as testosterone replacement and fertility management. Adults may often not be detected with 47, XXY until an infertility evaluation, while others who have known about their diagnosis for years may now need fertility-related care or genetic counseling for reproductive planning. […] After an initial evaluation, families will receive a comprehensive report with recommendations and a care plan to coordinate with their health providers.

• #53 Klinefelter syndrome A general practice perspective

  https://www.racgp.org.au/afp/2014/january-february/klinefelter-syndrome

  All men with KS should be referred to an endocrinologist for assessment and consideration of TRT, which is now available as implants, patches, gels, oral tablets and intramuscular injections. […] Referral to a clinical geneticist should be considered, particularly for Men who have questions about the genetics of KS.

• #54 How the Diagnosis of an Extra X Chromosome Helped Mathew Find Himself | Children’s Hospital Colorado

  https://www.childrenscolorado.org/doctors-and-departments/departments/endocrinology/mathew-klinefelter-syndrome/

  Mathews pediatrician began to suspect Klinefelter when Mathew was 15. […] The eXtraordinarY Kids Clinic, launched 10 years ago by Founder and Director Nicole Tartaglia, MD, combines endocrinologists, speech and occupational therapists, psychologists and a genetic counselor to treat every aspect of sex chromosomal aneuploidies in children. […] For Mathew and his parents, the teams comprehensive evaluation of Mathew and the way providers like Drs. Davis and Tartaglia explained it connected his learning and emotional challenges to XXY in a way that finally made sense.

• #55 WCM Klinefelter Syndrome Care Center | Patient Care

  https://weillcornell.org/wcm-klinefelter-syndrome-care-center

  The Weill Cornell Medicine (WCM) Klinefelter Syndrome Care Center offers multidisciplinary care for children and adults with Klinefelter syndrome. This program brings together a broad team of experts to offer our patients comprehensive evaluation and subspecialty care. […] We see families at all ages for genetic counseling and coordination of care. With advances in prenatal screening, families may be referred for genetic counseling and get clarification about a new diagnosis. […] From adolescence to young adulthood, our endocrinologists and urologists can individualize care and treatment to meet specific needs, such as testosterone replacement and fertility management. Adults may often not be detected with 47, XXY until an infertility evaluation, while others who have known about their diagnosis for years may now need fertility-related care or genetic counseling for reproductive planning. […] After an initial evaluation, families will receive a comprehensive report with recommendations and a care plan to coordinate with their health providers.

• #56

  https://link.springer.com/article/10.1007/s40618-024-02302-9

  Klinefelter syndrome (KS) is the most prevalent sex chromosome disorder among males. The communication of the KS diagnosis holds significant implications for the diagnosis’s acceptance. […] This study aims to investigate the most suitable timing, content, and healthcare professionals (HCPs) according to KS patients suggestions for conveying the diagnosis, analyzing the impact of communicating the KS diagnosis on patients and their reception of the communication in real-life situations. […] Most patients with Klinefelter syndrome reported that earlier communication would have been beneficial. Communication before the age of 18 and by parents increased the likelihood of overcoming negative consequences and relying on psychological support. […] To mitigate the adverse effects of poorly timed and inadequately delivered communication, typically by a single person, it is advisable that such communication be carried out at the onset of adolescence by an interdisciplinary team of HCPs (including psychologists, geneticists, endocrinologists) and parents.

• #57

  https://link.springer.com/article/10.1007/s40618-024-02302-9

  A fundamental moment in the lives of individuals with KS is the communication of the diagnosis, especially in young patients. […] Men diagnosed with KS later in life complained of late diagnosis and reported similar or more distressing problems than those diagnosed at a younger age, suggesting that they would benefit from early diagnosis and psychological intervention. […] Parents must then decide when and how to disclose this information to their son. […] For patients diagnosed after birth, Tremblay and colleagues (2016) propose a personalized approach, whereas Aliberti and colleagues (2022) advocate for a team of professionals, including an endocrinologist, psychologist, geneticist, and parents, to communicate the diagnosis before the age of 18. […] The communication of a diagnosis brought about discomfort predominantly associated with infertility, metabolic conditions, sexual traits, and sexuality.

• #58

  https://link.springer.com/article/10.1007/s40618-024-02302-9

  The communication of the diagnosis is often delayed due to many parents feeling unable to share the information with their child: this conflicts with the desires of patients, who would prefer to receive such diagnostic communication earlier in life, during adolescence or even pre-adolescence. […] Our findings indicate that when the diagnosis is disclosed by parents before the age of 18, there is a greater likelihood of reporting the usefulness of psychological support. […] Even if the diagnosis is given by a professional, a very important point is the completeness of the information that the patients receive, because a very high percentage said that the person who gives them the diagnosis should give them a further explanation. […] Although the acceptance of the diagnosis does not correlate with the perception of psychological support usefulness, a large proportion of participants reported that they would have liked psychological support, but only a small proportion of participants received it. […] The significant connections between these perceptions and the adverse emotions and concerns about the physical and psychological effects that emerge after diagnosis emphasize the importance of providing psychological support to patients when necessary.

• #59

  https://link.springer.com/article/10.1007/s40618-024-02302-9

  The communication of the diagnosis is often delayed due to many parents feeling unable to share the information with their child: this conflicts with the desires of patients, who would prefer to receive such diagnostic communication earlier in life, during adolescence or even pre-adolescence. […] Our findings indicate that when the diagnosis is disclosed by parents before the age of 18, there is a greater likelihood of reporting the usefulness of psychological support. […] Even if the diagnosis is given by a professional, a very important point is the completeness of the information that the patients receive, because a very high percentage said that the person who gives them the diagnosis should give them a further explanation. […] Although the acceptance of the diagnosis does not correlate with the perception of psychological support usefulness, a large proportion of participants reported that they would have liked psychological support, but only a small proportion of participants received it. […] The significant connections between these perceptions and the adverse emotions and concerns about the physical and psychological effects that emerge after diagnosis emphasize the importance of providing psychological support to patients when necessary.

• #60 Klinefelter syndrome – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-us/3000332

  Klinefelter syndrome (KS) is a chromosome variation affecting around 1 in 660 males in which an extra X chromosome is present, resulting in a genetic karyotype of 47,XXY. Karyotype analysis is required for definitive diagnosis. […] Symptoms and signs of KS may be subtle and the majority of affected individuals function fairly normally and are never diagnosed. Among those who are diagnosed, this most commonly happens following evaluation for male infertility, although antenatal diagnosis is becoming increasingly common. […] Key diagnostic factors include infertility, failure to complete pubertal maturation, small testes, expressive speech delay in early childhood, micropenis, and cryptorchidism. […] 1st investigations to order include chromosomal karyotype, serum total testosterone, and serum LH/FSH.

• #61 Klinefelter Syndrome – Diagnosis & Treatment | Atrium Health Wake Forest Baptist

  https://www.wakehealth.edu/condition/k/klinefelter-syndrome

  Boys normally have an X and a Y chromosome. With Klinefelter syndrome, they have an extra X chromosome that is written as XXY. The condition is often first diagnosed when a man comes to the doctor because of infertility. […] Klinefelter syndrome can be diagnosed through genetic testing, semen analysis and blood tests to measure hormones.

• #62 Klinefelter’s Syndrome Association (KSA)

  https://www.ksa-uk.net/for-adults/diagnosis-adults/

  KS/XXY affects around 1 in 600 males, but many medical practitioners mistakenly think it is so rare that they will never come across it. […] Early diagnosis and a good understanding of the implications of KS/XXY can improve life for both the person with the condition and for those with whom they have close contact. […] A timely diagnosis can make a huge difference to life experiences. […] Around 75% will never get a diagnosis. […] The KSA is trying to change the perception that KS/XXY is very rare. […] Initial tests if KS/XXY suspected: Blood tests are needed to check levels of: lutenising hormone (LH), follicle stimulating hormone (FSH), sex hormone binding globulin (SHBG), testosterone (T). […] Tests for testosterone levels should be taken early in the morning (around 8.00 am to 9.00 am).

• #63 Clinical features, diagnosis, and management of Klinefelter syndrome – UpToDate

  https://www.uptodate.com/contents/clinical-features-diagnosis-and-management-of-klinefelter-syndrome

  Clinical features, diagnosis, and management of Klinefelter syndrome […] The majority of males with Klinefelter syndrome are not diagnosed. […] Only 25 to 50 percent of patients with Klinefelter syndrome are diagnosed during their lifetimes. […] This underdiagnosis is likely due to clinicians’ lack of awareness of the variable clinical features of Klinefelter syndrome, as well as inexperience assessing testicular volumes. […] Karyotype […] Prenatal and newborn diagnosis […] Prepubertal and peripubertal diagnosis […] Adult diagnosis.

• #64

  https://link.springer.com/article/10.1007/s40618-024-02302-9

  Klinefelter syndrome (KS) is the most prevalent sex chromosome disorder among males. The communication of the KS diagnosis holds significant implications for the diagnosis’s acceptance. […] This study aims to investigate the most suitable timing, content, and healthcare professionals (HCPs) according to KS patients suggestions for conveying the diagnosis, analyzing the impact of communicating the KS diagnosis on patients and their reception of the communication in real-life situations. […] Most patients with Klinefelter syndrome reported that earlier communication would have been beneficial. Communication before the age of 18 and by parents increased the likelihood of overcoming negative consequences and relying on psychological support. […] To mitigate the adverse effects of poorly timed and inadequately delivered communication, typically by a single person, it is advisable that such communication be carried out at the onset of adolescence by an interdisciplinary team of HCPs (including psychologists, geneticists, endocrinologists) and parents.

• #65 WCM Klinefelter Syndrome Care Center | Patient Care

  https://weillcornell.org/wcm-klinefelter-syndrome-care-center

  The Weill Cornell Medicine (WCM) Klinefelter Syndrome Care Center offers multidisciplinary care for children and adults with Klinefelter syndrome. This program brings together a broad team of experts to offer our patients comprehensive evaluation and subspecialty care. […] We see families at all ages for genetic counseling and coordination of care. With advances in prenatal screening, families may be referred for genetic counseling and get clarification about a new diagnosis. […] From adolescence to young adulthood, our endocrinologists and urologists can individualize care and treatment to meet specific needs, such as testosterone replacement and fertility management. Adults may often not be detected with 47, XXY until an infertility evaluation, while others who have known about their diagnosis for years may now need fertility-related care or genetic counseling for reproductive planning. […] After an initial evaluation, families will receive a comprehensive report with recommendations and a care plan to coordinate with their health providers.

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