Materiały źródłowe

• #1 UNDERSTANDING KLINEFELTER SYNDROME AN OVERVIEW AND NURSING CONSIDERATIONS | Society for Endocrinology

  https://www.endocrinology.org/endocrinologist/143-spring-22/features/understanding-klinefelter-syndrome-an-overview-and-nursing-considerations/

  Klinefelter syndrome (KS) is a common aneuploidy in men, clinically characterised by small testes, gonadal failure (hypergonadotrophic hypogonadism), disrupted spermatogenesis (infertility), gynaecomastia and eunuchoid proportions (arm span exceeds height by 7cm). It affects 1 in 600 men, but 50-75% of men with KS go undiagnosed in their lifetime. Almost 90% of men with KS have an XXY karyotype, and the remaining 10% have mosaicism (46,XY/47,XXY), higher grade aneuploidy (48,XXXY/49,XXXXY), or structurally abnormal X chromosomes. […] Effective management of patients with KS undergoing fertility treatment requires a multidisciplinary approach, including endocrinology, andrology, genetic counselling, psychology and nursing. […] The endocrine nurse plays a vital role in supporting patients with their treatment management and suggesting psychological referral as appropriate.

• #2 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. The clinical features were first described in males with tall stature, small testes, gynecomastia, and azoospermia. […] Androgen replacement, along with neuropsychological and adaptive therapies, frequently supports effective medical management. […] In addition to infertility, individuals with Klinefelter syndrome are at increased risk for complications such as osteoporosis, metabolic syndrome, breast cancer, and autoimmune disorders. However, early diagnosis and comprehensive care, including hormonal, psychological, and educational support, can help many individuals achieve good long-term outcomes. […] This activity for healthcare professionals is designed to enhance learners’ competence in evaluating and managing Klinefelter syndrome. […] Enhanced proficiency enables clinicians to collaborate more effectively within interprofessional teams, leading to improved outcomes for individuals with Klinefelter syndrome.

• #3 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. The clinical features were first described in males with tall stature, small testes, gynecomastia, and azoospermia. […] Androgen replacement, along with neuropsychological and adaptive therapies, frequently supports effective medical management. […] In addition to infertility, individuals with Klinefelter syndrome are at increased risk for complications such as osteoporosis, metabolic syndrome, breast cancer, and autoimmune disorders. However, early diagnosis and comprehensive care, including hormonal, psychological, and educational support, can help many individuals achieve good long-term outcomes. […] This activity for healthcare professionals is designed to enhance learners’ competence in evaluating and managing Klinefelter syndrome. […] Enhanced proficiency enables clinicians to collaborate more effectively within interprofessional teams, leading to improved outcomes for individuals with Klinefelter syndrome.

• #4 What are the treatments for symptoms in Klinefelter syndrome (KS)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

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

  Its important to remember that because symptoms can be mild, many males with KS are never diagnosed or treated. […] The earlier in life that KS symptoms are recognized and treated, the more likely it is that the symptoms can be reduced or eliminated. […] It is especially helpful to begin treatment by early puberty. […] The type of treatment needed depends on the type of symptoms being treated. […] Males taking testosterone treatment should work closely with an endocrinologist, a doctor who specializes in hormones and their functions, to ensure the best outcome from testosterone therapy. […] XXY males who are thinking about mastectomy should discuss all the risks and benefits with their health care provider. […] Advances in assistive reproductive technology (ART) have made it possible for some men with KS to conceive.

• #5 What are the treatments for symptoms in Klinefelter syndrome (KS)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

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

  The earlier treatment begins, the better the outcomes. […] Parents might need to bring these types of problems to the teachers attention. […] Boys and men with KS can benefit by visiting therapists who are experts in areas such as coordination, social skills, and coping. […] Parents of XXY males have also mentioned that taking part in physical activities at low-key levels, such as karate, swimming, tennis, and golf, were helpful in improving motor skills, coordination, and confidence. […] Some school districts and health centers might also offer these types of skill-building programs or classes. […] In these instances, consulting a psychologist, counselor, or psychiatrist may be helpful.

• #6 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. […] The XXY condition that causes Klinefelter syndrome can’t be changed, but medical treatment and working with therapists can help a boy’s development and lessen the condition’s effects. […] There’s no way to change the XXY condition if a boy is born with it, but treatments can help relieve some symptoms. As with many conditions, beginning treatment early can make it much more effective. […] Testosterone replacement therapy (TRT) works by increasing a boy’s testosterone levels into the normal range. Additional testosterone can help a boy with Klinefelter syndrome develop bigger muscles and a deeper voice, as well as promote growth of the penis and facial and body hair. […] Educational support services can help boys and teens with Klinefelter syndrome keep pace in school. Many benefit from extra help with schoolwork.

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

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

  If you or your child is diagnosed with Klinefelter syndrome, your healthcare team may include a doctor called an endocrinologist who specializes in conditions involving the body’s glands and hormones. Your team also may include a speech therapist, a pediatrician, a physical therapist, a genetic counselor, a reproductive medicine or infertility specialist, and a counselor or psychologist. […] Although there’s no way to repair the sex chromosome changes due to Klinefelter syndrome, treatments can help lessen its effects. The earlier the condition is diagnosed and treatment is started, the greater the benefits. But it’s never too late to get help. […] Treatment for Klinefelter syndrome is based on symptoms and may include: […] Testosterone therapy. Starting at the time of the usual onset of puberty, testosterone therapy can be given to help stimulate changes that typically occur at puberty. These changes include a deeper voice, facial and body hair, bigger muscle mass, and sexual desire. Testosterone therapy also can help bone density. It may help mood, focus and attention too. Testosterone therapy does not help with fertility problems.

• #8 UNDERSTANDING KLINEFELTER SYNDROME AN OVERVIEW AND NURSING CONSIDERATIONS | Society for Endocrinology

  https://www.endocrinology.org/endocrinologist/143-spring-22/features/understanding-klinefelter-syndrome-an-overview-and-nursing-considerations/

  Klinefelter syndrome (KS) is a common aneuploidy in men, clinically characterised by small testes, gonadal failure (hypergonadotrophic hypogonadism), disrupted spermatogenesis (infertility), gynaecomastia and eunuchoid proportions (arm span exceeds height by 7cm). It affects 1 in 600 men, but 50-75% of men with KS go undiagnosed in their lifetime. Almost 90% of men with KS have an XXY karyotype, and the remaining 10% have mosaicism (46,XY/47,XXY), higher grade aneuploidy (48,XXXY/49,XXXXY), or structurally abnormal X chromosomes. […] Effective management of patients with KS undergoing fertility treatment requires a multidisciplinary approach, including endocrinology, andrology, genetic counselling, psychology and nursing. […] The endocrine nurse plays a vital role in supporting patients with their treatment management and suggesting psychological referral as appropriate.

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

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

  If you or your child is diagnosed with Klinefelter syndrome, your healthcare team may include a doctor called an endocrinologist who specializes in conditions involving the body’s glands and hormones. Your team also may include a speech therapist, a pediatrician, a physical therapist, a genetic counselor, a reproductive medicine or infertility specialist, and a counselor or psychologist. […] Although there’s no way to repair the sex chromosome changes due to Klinefelter syndrome, treatments can help lessen its effects. The earlier the condition is diagnosed and treatment is started, the greater the benefits. But it’s never too late to get help. […] Treatment for Klinefelter syndrome is based on symptoms and may include: […] Testosterone therapy. Starting at the time of the usual onset of puberty, testosterone therapy can be given to help stimulate changes that typically occur at puberty. These changes include a deeper voice, facial and body hair, bigger muscle mass, and sexual desire. Testosterone therapy also can help bone density. It may help mood, focus and attention too. Testosterone therapy does not help with fertility problems.

• #10 Klinefelter Syndrome – StatPearls – NCBI Bookshelf

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

  To ensure appropriate education, rapport, and a structured plan for monitoring and treatment, boys and their parents should engage with a pediatric endocrinologist around the onset of puberty. […] The decision to initiate androgen replacement should be individualized and may begin with the onset of puberty or be delayed until clear signs of hypogonadism emerge, which may not occur until late adolescence or early adulthood. […] Managing Klinefelter syndrome requires coordinated interprofessional care involving pediatricians, endocrinologists, geneticists, fertility specialists, and mental health professionals. […] Timely collaboration across specialties ensures comprehensive treatment that addresses hormonal, developmental, reproductive, and psychosocial needs. […] Individuals with Klinefelter syndrome benefit significantly from coordinated, interprofessional care involving endocrinologists, urologists, neurologists, psychiatrists, geneticists, internists, pediatricians, psychologists, speech therapists, and physical therapists. […] Long-term outcomes vary depending on mental health, with a slightly shorter lifespan than the general population.

• #11 Klinefelter Syndrome Treatment & Management: Medical Care, Surgical Care, Consultations

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

  Mastectomy may be indicated for gynecomastia, which can place considerable psychological strain on the patient. […] Consultations may include the following: Clinical geneticist/genetic counselor, Endocrinologist (treatment approach to androgen replacement therapy), Surgeon (evaluation for breast tissue removal), Dentist (focus on dental health preservation/restoration), Psychologist, Speech therapist. […] In a mixed-method study by Close et al, parents reported that a lack of guidance and case coordination increased the challenges of providing childcare for their sons with Klinefelter syndrome.

• #12 Frontiers | Klinefelter Syndrome and the Need for a Multi-Disciplinary Approach

  https://www.frontiersin.org/journals/reproductive-health/articles/10.3389/frph.2021.622144/full

  Endocrinologist can manage and treat the physical symptoms brought about by the low levels of testosterone, using testosterone replacement therapy (TRT). Urologist can offer fertility treatment such as Hormone Manipulation Therapy (HRT) to increase their sperm count and microsurgical sperm extraction. […] As these patients are predisposed to developing secondary diseases mentioned earlier, they require long term monitoring of their blood pressure, glucose controls, bone health, and lipid levels. […] An MDT approach allows the clinicians managing the different aspects of the patients’ needs to collaborate effectively and efficiently, allowing for a more comprehensive and holistic approach to patient care. […] Having the seven different specialities in our one clinic enables the team to come up with a single cohesive management plan for each patient. […] The clinic aims to increase awareness and education of KS in the healthcare community. One of the main reasons for the long waiting time for patients in primary care could be attributed to the lack of awareness of the possibility of KS as a diagnosis for these patients.

• #13 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. […] Our goal is to provide the best care based on advances in health information and evidence-based treatment. […] 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. […] With leadership between medical genetics, endocrinology and urology, we have a multidisciplinary team of specialists to provide care at all ages. […] After an initial evaluation, families will receive a comprehensive report with recommendations and a care plan to coordinate with their health providers.

• #14 Johns Hopkins Klinefelter Syndrome Center

  https://klinefelter.jhu.edu/

  Mission: We are a comprehensive multidisciplinary health care system designed to care for boys and men with KS. Our medical specialists act as a team to provide the most up to date services to maintain the long-term health of men with KS. […] Treatment can help males overcome many of the physical, social, and learning problems that are part of the syndrome. Males with Klinefelter syndrome should be seen by a team of health care providers. The team may include endocrinologists, general practitioners, pediatricians, urologists, speech therapists, genetic counselors, and psychologists. Surgery may be needed to reduce breast size. With treatment, men can lead very normal lives. […] Experts recommend testosterone replacement, starting during puberty, for proper development of muscles, bones, male sex characteristics such as facial hair, and sexual function. Continued treatment throughout life helps prevent long-term health problems. Testosterone replacement does not cure infertility, however. Infertility treatments require specializedand costlytechniques, but some men with Klinefelter syndrome have been able to father children.

• #15 Integrated Care Approach Benefits Patients with Klinefelter Syndrome | Lurie Children’s

  https://www.luriechildrens.org/en/news-stories/integrated-care-approach-benefits-patients-with-klinefelter-syndrome/

  The Klinefelter Syndrome Program at Ann Robert H. Lurie Children’s Hospital offers comprehensive care for individuals with Klinefelter syndrome. […] The program is led by pediatric endocrinologist Courtney Finlayson, MD. […] The clinic brings integrates specialists from endocrinology, urology, genetic counseling, social work, psychology, and neuropsychology. […] Each patients care team is tailored to their unique needs, and adapts as their needs change. […] Neuropsychology is a unique resource of the program, offering testing during key transitional periods of childhood to support the needs of pediatric patients as they mature. […] Lurie Childrens Klinefelter Syndrome Program offers prenatal consultations through The Chicago Institute for Fetal Health, which includes genetic counseling and a discussion with a pediatric endocrinologist.

• #16 Klinefelter Syndrome and other X,Y Aneuploidy Conditions Program | Mount Sinai – New York

  https://www.mountsinai.org/locations/kravis-childrens/services/pediatric-endocrinology-diabetes/klinefelter-syndrome

  The Mount Sinai Hospital offers comprehensive care for children and adolescents with conditions involving the X and Y chromosomes. The Klinefelter Syndrome and other X,Y Aneuploidy Conditions Program treats patients who have Klinefelter syndrome (also known as 47,XXY) and other conditions such as 47,XXX or 48,XXXY. Klinefelter syndrome, which affects only males, may cause problems with physical development—including puberty—and learning. It is one of the leading causes of infertility in men. Aneuploidy conditions occur when there is one or more extra or missing chromosome in a cell. Other rare conditions can also affect growth, development, and fertility. […] Our expert specialists are trained to identify and treat these conditions, and to provide education and options for fertility preservation. Through our program, you child’s health care team will include multidisciplinary providers from Pediatric Endocrinology, Urology, Genetics, and Pediatric Development. We work with patients from infancy to young adulthood, and provide family-centered, compassionate care.

• #17 Klinefelter Syndrome Program | Lurie Children’s

  https://www.luriechildrens.org/en/specialties-conditions/klinefelter-syndrome-program/

  The Klinefelter Syndrome Program at Lurie Children’s offers interdisciplinary care spanning from prenatal consultation to young adulthood for individuals with Klinefelter Syndrome (also referred to as 47,XXY). […] It is important for all people with Klinefelter syndrome to receive regular care with knowledgeable clinicians. […] Our program values the importance of psychosocial support for individuals and families. […] We recommend patients are seen in our clinic every 1-2 years during childhood. […] Return appointments are also a good time for patients and families to ask questions and learn updates about advances in Klinefelter syndrome care and research. […] We recommend all individuals with Klinefelter syndrome have neuropsychology testing around the time of school entry (1st or 2nd grade). […] The information from this testing helps children who need it receive support at school to promote academic excellence.

• #18 Klinefelter Syndrome Clinic

  https://www.massgeneral.org/children/klinefelter-syndrome

  Welcome to the Mass General Hospital Klinefelter Syndrome clinic. Here, we aim to provide high-quality, coordinated care to individuals of all ages living with Klinefelter syndrome. […] The MassGeneral Hospital Klinefelter Syndrome Clinic takes a multidisciplinary approach to providing quality, coordinated care to individuals of all ages living with Klinefelter syndrome. […] In order to provide up-to-date care for people with Klinefelter syndrome, we take an evidence-based approach to care, informed by clinical and scientific research publications. […] We work as a team to help those with Klinefelter syndrome and their families transition from prenatal consultation to infancy to adolescence, and through adulthood and their senior years. Our approach is customized to the age of the patient and their specific needs.

• #19 UNDERSTANDING KLINEFELTER SYNDROME AN OVERVIEW AND NURSING CONSIDERATIONS | Society for Endocrinology

  https://www.endocrinology.org/endocrinologist/143-spring-22/features/understanding-klinefelter-syndrome-an-overview-and-nursing-considerations/

  Klinefelter syndrome (KS) is a common aneuploidy in men, clinically characterised by small testes, gonadal failure (hypergonadotrophic hypogonadism), disrupted spermatogenesis (infertility), gynaecomastia and eunuchoid proportions (arm span exceeds height by 7cm). It affects 1 in 600 men, but 50-75% of men with KS go undiagnosed in their lifetime. Almost 90% of men with KS have an XXY karyotype, and the remaining 10% have mosaicism (46,XY/47,XXY), higher grade aneuploidy (48,XXXY/49,XXXXY), or structurally abnormal X chromosomes. […] Effective management of patients with KS undergoing fertility treatment requires a multidisciplinary approach, including endocrinology, andrology, genetic counselling, psychology and nursing. […] The endocrine nurse plays a vital role in supporting patients with their treatment management and suggesting psychological referral as appropriate.

• #20 UNDERSTANDING KLINEFELTER SYNDROME AN OVERVIEW AND NURSING CONSIDERATIONS | Society for Endocrinology

  https://www.endocrinology.org/endocrinologist/143-spring-22/features/understanding-klinefelter-syndrome-an-overview-and-nursing-considerations/

  Adopting a Nursing Process framework, the endocrine nurse provides a systematic approach to decision making and care planning, comprised of five stages: assessment, diagnosis, planning, implementation and evaluation. The patient and his partner should be actively involved in the decision-making process and consulted throughout the duration of the fertility treatment. […] The endocrine nurse plays a crucial role in providing the patient with the relevant information about the fertility treatment changes and the TESE surgical procedure, including a detailed explanation of the success rates, based on available research and statistics from their local centre. […] For successful implementation of the agreed care plan, the endocrine nurse needs to ensure that the patient understands the information provided regarding fertility treatment, and provides him with the opportunity to ask questions.

• #21 Learning about things larger than you | Nursing Magazine | Emory University

  https://emorynursingmagazine.emory.edu/issues/2019/fall/features/learning-about-things-larger-than-you/index.html

  Boys and girls born with these disorders, also called X and Y variations, often face a tough road. […] Children may grow to be unusually tall, have an atypical body shape, and have hormonal problems during puberty that affect adult fertility. […] Until recently, families of children with X and Y variations had few places to turn for help. […] Even with a correct diagnosis, providers have been hard pressed to help patients because of the dearth of awareness and research on how best to manage sex chromosome disorders. […] Blumling is responsible for taking patient histories, performing physical and developmental assessments on babies and young children, and coordinating care with clinic specialists and community resources. […] We help get people connected, Blumling says. […] But we know from the trajectory of their disorder that they need to start seeing certain specialists, such as an endocrinologist or a gynecologist during puberty. […] Parents really appreciate coming to the clinic, she adds. Its a beacon of hope for them because they find people who really understand what theyre going through. It gives them hope that their children can get the care and services they need.

• #22 Klinefelter Syndrome – StatPearls – NCBI Bookshelf

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

  Objectives: […] Implement personalized, evidence-based interventions for Klinefelter syndrome, focusing on hormonal treatments, speech and language therapies, and psychosocial support. […] Collaborate with an interprofessional healthcare team to provide comprehensive care for individuals with Klinefelter syndrome. […] Earlier diagnosis, often prenatally, allows timely developmental evaluation and early intervention to support neuropsychological outcomes. […] Common behavioral and mental health concerns include anxiety and depression, and referral to behavioral health services can provide substantial benefit. […] Supervised testosterone supplementation by a pediatric endocrinologist may mitigate physical manifestations traditionally associated with this condition. […] All affected individuals should undergo screening for autism spectrum disorder.

• #23 Get Klinefelter Syndrome Treatment | Cleveland Clinic Children’s

  https://my.clevelandclinic.org/pediatrics/services/klinefelter-syndrome-treatment

  If your child has Klinefelter syndrome, they may have low levels of the hormone testosterone. Often, when theyre teenagers, their testicles cant make sperm or testosterone. This means your child might not start puberty or start and then stop again. It can cause growth and development issues, infertility and mental and emotional challenges. […] If your child has Klinefelter syndrome, they can develop extra breast tissue that doesnt go away as they grow. If it causes problems or bothers your child, your providers might decide to do reduction surgery to remove the excess tissue. Your childs providers will talk with you and your child about what to expect before, during and after surgery. Typically, people wait until theyre adults for this procedure. […] Learning that you child may have Klinefelter syndrome can have an impact on your whole family. You might be feeling confused, worried and wondering whats next. Well take time to go over what this diagnosis means, what you can expect from treatment and how your whole family can be involved in managing daily life. For us, its more than just treatment for your child. Well build a lasting relationship with your family and give you the support you need every step of the way.

• #24 UNDERSTANDING KLINEFELTER SYNDROME AN OVERVIEW AND NURSING CONSIDERATIONS | Society for Endocrinology

  https://www.endocrinology.org/endocrinologist/143-spring-22/features/understanding-klinefelter-syndrome-an-overview-and-nursing-considerations/

  Adopting a Nursing Process framework, the endocrine nurse provides a systematic approach to decision making and care planning, comprised of five stages: assessment, diagnosis, planning, implementation and evaluation. The patient and his partner should be actively involved in the decision-making process and consulted throughout the duration of the fertility treatment. […] The endocrine nurse plays a crucial role in providing the patient with the relevant information about the fertility treatment changes and the TESE surgical procedure, including a detailed explanation of the success rates, based on available research and statistics from their local centre. […] For successful implementation of the agreed care plan, the endocrine nurse needs to ensure that the patient understands the information provided regarding fertility treatment, and provides him with the opportunity to ask questions.

• #25 UNDERSTANDING KLINEFELTER SYNDROME AN OVERVIEW AND NURSING CONSIDERATIONS | Society for Endocrinology

  https://www.endocrinology.org/endocrinologist/143-spring-22/features/understanding-klinefelter-syndrome-an-overview-and-nursing-considerations/

  Evaluation will be completed at designated time points, such as clinic appointments to monitor treatment progress and the patients overall physical and psychological well-being. The partner should also be involved in the follow up consultations and supported for assisted fertility treatment planning, when micro-TESE is successful in retrieving healthy sperm.

• #26 Klinefelter syndrome: Symptoms & treatment | Healthy Male

  https://healthymale.org.au/mens-health/klinefelter-syndrome

  Although there’s no cure for Klinefelter syndrome, there are things you can do to minimise the effects of the condition on your health and wellbeing, including: Monitoring your health and development, Seeking appropriate care if necessary, Maintaining a normal testosterone level. […] If you’re a parent of a child with symptoms of Klinefelter syndrome, a confirmed diagnosis will allow doctors to provide care that achieves the best possible outcomes for your child’s health and wellbeing. […] Similarly, if you’re a man with symptoms of Klinefelter syndrome, an accurate diagnosis and ongoing specialist treatment managed by your doctor can help.

• #27 Klinefelter Syndrome | Kaiser Permanente

  https://healthy.kaiserpermanente.org/health-wellness/health-encyclopedia/he.klinefelter-syndrome.hw183686

  People with Klinefelter syndrome can be given testosterone, a hormone needed for sexual development. If treatment is started around the age of puberty, it can help adolescents with the sexual development of their bodies. […] Speech therapy and educational support can help children who have language or learning problems. […] If your child has been diagnosed with Klinefelter syndrome: Recognize your feelings. It is natural for parents to feel that they have done something to cause Klinefelter syndrome. But this condition is beyond anyone’s control. Allow yourself time to deal with your feelings, and talk with your child’s doctor about your concerns. […] Educate yourself about the condition. Educating yourself will help you learn how to help your child. […] Support your child. Provide education about Klinefelter syndrome that is appropriate for their age and give them the emotional support and encouragement they need. Remind them that most people who have Klinefelter syndrome go through life with few problems.

• #28 UNDERSTANDING KLINEFELTER SYNDROME AN OVERVIEW AND NURSING CONSIDERATIONS | Society for Endocrinology

  https://www.endocrinology.org/endocrinologist/143-spring-22/features/understanding-klinefelter-syndrome-an-overview-and-nursing-considerations/

  Adopting a Nursing Process framework, the endocrine nurse provides a systematic approach to decision making and care planning, comprised of five stages: assessment, diagnosis, planning, implementation and evaluation. The patient and his partner should be actively involved in the decision-making process and consulted throughout the duration of the fertility treatment. […] The endocrine nurse plays a crucial role in providing the patient with the relevant information about the fertility treatment changes and the TESE surgical procedure, including a detailed explanation of the success rates, based on available research and statistics from their local centre. […] For successful implementation of the agreed care plan, the endocrine nurse needs to ensure that the patient understands the information provided regarding fertility treatment, and provides him with the opportunity to ask questions.

• #29 Klinefelter Syndrome | AAFP

  https://www.aafp.org/pubs/afp/issues/2005/1201/p2259.html

  Androgen therapy should be started when there is direct laboratory evidence of a testosterone deficit or when hypergonadotrophism, which suggests such a deficit, is present. This may occur by the time the patient begins middle school (i.e., 12 to 14 years of age). […] Consideration of Klinefelter syndrome as a diagnosis and investigation with a standard karyotype are important because of the therapeutic benefit of testosterone supplementation. Clinical suspicion warrants diagnostic investigation to ensure appropriate surveillance for testosterone deficit. […] Because gynecomastia predisposes men to breast cancer the frequency of breast cancer is 20 to 50 times greater than in men who do not have Klinefelter syndrome monthly breast self-examination should be encouraged. If necessary for cosmetic reasons, gynecomastia may be treated surgically. […] Infertility in men with Klinefelter syndrome is caused by a precipitous drop in sperm count. If sperm are present, cryopreservation is useful for future family planning with intracytoplasmic sperm injection, and if not, testicular sperm extraction may be pursued.

• #30 Klinefelter Syndrome – StatPearls – NCBI Bookshelf

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

  To ensure appropriate education, rapport, and a structured plan for monitoring and treatment, boys and their parents should engage with a pediatric endocrinologist around the onset of puberty. […] The decision to initiate androgen replacement should be individualized and may begin with the onset of puberty or be delayed until clear signs of hypogonadism emerge, which may not occur until late adolescence or early adulthood. […] Managing Klinefelter syndrome requires coordinated interprofessional care involving pediatricians, endocrinologists, geneticists, fertility specialists, and mental health professionals. […] Timely collaboration across specialties ensures comprehensive treatment that addresses hormonal, developmental, reproductive, and psychosocial needs. […] Individuals with Klinefelter syndrome benefit significantly from coordinated, interprofessional care involving endocrinologists, urologists, neurologists, psychiatrists, geneticists, internists, pediatricians, psychologists, speech therapists, and physical therapists. […] Long-term outcomes vary depending on mental health, with a slightly shorter lifespan than the general population.

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

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

  If you or your child is diagnosed with Klinefelter syndrome, your healthcare team may include a doctor called an endocrinologist who specializes in conditions involving the body’s glands and hormones. Your team also may include a speech therapist, a pediatrician, a physical therapist, a genetic counselor, a reproductive medicine or infertility specialist, and a counselor or psychologist. […] Although there’s no way to repair the sex chromosome changes due to Klinefelter syndrome, treatments can help lessen its effects. The earlier the condition is diagnosed and treatment is started, the greater the benefits. But it’s never too late to get help. […] Treatment for Klinefelter syndrome is based on symptoms and may include: […] Testosterone therapy. Starting at the time of the usual onset of puberty, testosterone therapy can be given to help stimulate changes that typically occur at puberty. These changes include a deeper voice, facial and body hair, bigger muscle mass, and sexual desire. Testosterone therapy also can help bone density. It may help mood, focus and attention too. Testosterone therapy does not help with fertility problems.

• #32 Klinefelter Syndrome Treatment & Management: Medical Care, Surgical Care, Consultations

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

  Early identification and anticipatory guidance are extremely helpful in Klinefelter syndrome. Management and treatment should focus on 3 major facets of the syndrome: hypogonadism, gynecomastia, and psychosocial problems. […] Androgen replacement therapy is an important aspect of treatment. […] Regularly scheduled testosterone injections promote strength and facial hair growth; build a more muscular body type; increase sexual desire; enlarge the testes; improve mood, self-image, and behavior; and protect against precocious osteoporosis. […] A multidisciplinary team approach can assist in improving speech impairments, academic difficulties, and other psychosocial and behavioral problems. […] Physical therapy is recommended for boys with hypotonia or delayed gross motor skills that may affect muscle tone, balance, and coordination. Occupational therapy is advised in boys with motor dyspraxia.

• #33 Klinefelter syndrome Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/klinefelter-syndrome

  Klinefelter syndrome, also called 47,XXY, is a genetic condition that occurs in males when they have an extra X chromosome. This can cause problems with development and fertility. Some men have no symptoms and never know they have it. […] While there is no cure, treatment can help improve symptoms. Depending on symptoms, the health care team may include a number of specialists: Endocrinologist, Speech and language therapist, Physical therapist, Mental health counselor, Infertility specialist. […] Testosterone therapy may be prescribed. This can help: Grow body hair, Deepen the voice, Strengthen bones, Improve muscle strength and bulk, Improve concentration, Improve mood and self esteem, Increase energy and sex drive. […] If you have Klinefelter syndrome and wish to have children, it’s a good idea to work with an infertility specialist. Many men with this syndrome cannot produce enough sperm to have children. However, some men may be helped with newer reproductive technologies. […] Adult males with this condition should see their provider for regular health exams to check for and manage possible health problems.

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

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

  If you or your child is diagnosed with Klinefelter syndrome, your healthcare team may include a doctor called an endocrinologist who specializes in conditions involving the body’s glands and hormones. Your team also may include a speech therapist, a pediatrician, a physical therapist, a genetic counselor, a reproductive medicine or infertility specialist, and a counselor or psychologist. […] Although there’s no way to repair the sex chromosome changes due to Klinefelter syndrome, treatments can help lessen its effects. The earlier the condition is diagnosed and treatment is started, the greater the benefits. But it’s never too late to get help. […] Treatment for Klinefelter syndrome is based on symptoms and may include: […] Testosterone therapy. Starting at the time of the usual onset of puberty, testosterone therapy can be given to help stimulate changes that typically occur at puberty. These changes include a deeper voice, facial and body hair, bigger muscle mass, and sexual desire. Testosterone therapy also can help bone density. It may help mood, focus and attention too. Testosterone therapy does not help with fertility problems.

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

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

  People with Klinefelter syndrome often have less testosterone than those without the condition. Some won’t start puberty at all, while others will start but then stop or regress. […] Replacing the testosterone hormone can help minimize some of the symptoms of the condition. […] Healthcare providers usually recommend testosterone injections in children and teens. Adults may receive other types of treatment, including testosterone gels, testosterone patches, and testosterone subcutaneous pellets. […] If you have Klinefelter syndrome, you can benefit from different types of therapy. As part of your treatment, you might see speech-language pathologists (SLPs) to help with speech development, physical therapists to help build muscle, occupational therapists to help improve motor skills and coordination, and emotional, behavioral and family therapists for psychological support.

• #36 Klinefelter Syndrome: Treatment | Stanford Health Care

  https://stanfordhealthcare.org/medical-conditions/mens-health/klinefelter-syndrome/treatment.html

  Males with Klinefelter syndrome can be given testosterone, a hormone needed for sexual development. If treatment is started around the age of puberty, it can help boys with the sexual development of their bodies. […] Testosterone is given by injection or through a skin patch or gel. The treatment usually continues throughout a man’s life but does not help infertility. […] Speech therapy and educational support can help boys who have language or learning problems.

• #37 Klinefelter Syndrome: Treatment | Stanford Health Care

  https://stanfordhealthcare.org/medical-conditions/mens-health/klinefelter-syndrome/treatment.html

  Males with Klinefelter syndrome can be given testosterone, a hormone needed for sexual development. If treatment is started around the age of puberty, it can help boys with the sexual development of their bodies. […] Testosterone is given by injection or through a skin patch or gel. The treatment usually continues throughout a man’s life but does not help infertility. […] Speech therapy and educational support can help boys who have language or learning problems.

• #38 Klinefelter Syndrome Follow-up: Further Outpatient Care, Further Inpatient Care, Inpatient & Outpatient Medications

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

  Management of Klinefelter syndrome includes the following: […] Endocrinologist – To assist in management and treatment with testosterone replacement therapy […] Speech therapy […] Occupational and physical therapy […] Behavioral consultation […] Regular exercise and upper body strengthening. […] Admission for supportive care is not necessary in patients with Klinefelter syndrome. […] Administer regular testosterone injections. […] All patients with Klinefelter syndrome should be informed about the increased risk of deep vein thrombosis and should have their hematocrit levels monitored to avoid increased viscosity. […] Hypogonadism, low libido, and psychosocial problems can be helped by testosterone treatment. […] Gynecomastia can be corrected by mastectomy.

• #39 Klinefelter syndrome: Symptoms & treatment | Healthy Male

  https://healthymale.org.au/mens-health/klinefelter-syndrome

  Infants and children with Klinefelter syndrome should be examined by their doctor at least every two years to monitor their physical development. […] They may need support from specialists to manage any problems with speech, learning, behaviour or psychiatric issues. […] Testosterone treatment might be prescribed for boys with Klinefelter syndrome who have a very small penis. […] Monitoring the growth and hormone function of boys with Klinefelter syndrome in the lead-up to puberty helps guide decisions about testosterone treatment, which may become necessary. […] Testosterone treatment is recommended to many adults with Klinefelter syndrome. […] If you have Klinefelter syndrome and are not receiving testosterone treatment, your hormonal function should be checked every 12 months.

• #40 Klinefelter Syndrome Follow-up: Further Outpatient Care, Further Inpatient Care, Inpatient & Outpatient Medications

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

  Management of Klinefelter syndrome includes the following: […] Endocrinologist – To assist in management and treatment with testosterone replacement therapy […] Speech therapy […] Occupational and physical therapy […] Behavioral consultation […] Regular exercise and upper body strengthening. […] Admission for supportive care is not necessary in patients with Klinefelter syndrome. […] Administer regular testosterone injections. […] All patients with Klinefelter syndrome should be informed about the increased risk of deep vein thrombosis and should have their hematocrit levels monitored to avoid increased viscosity. […] Hypogonadism, low libido, and psychosocial problems can be helped by testosterone treatment. […] Gynecomastia can be corrected by mastectomy.

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

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

  Therapy. Speech and language therapy can help if there are speech or language problems. Physical therapy can help with motor skills and muscle strength. Occupational therapy can help with social skills and job skills. […] Mental health support. Having Klinefelter syndrome can be a challenge, especially during puberty and young adulthood. Coping with infertility also can be a challenge. A family therapist, counselor or psychologist can help work through emotional concerns. […] Treatment, health education and social support can greatly benefit people with Klinefelter syndrome. […] If you have a child with Klinefelter syndrome, you can help with healthy mental, physical, emotional and social development. […] Keep regular follow-up appointments with medical professionals. This may help prevent future problems.

• #42 Klinefelter Syndrome | Dayton Children’s Hospital

  https://www.childrensdayton.org/kidshealth/a/klinefelter-syndrome

  Speech therapy and physical therapy can help boys with Klinefelter syndrome learn to speak, read, and write better, or improve muscle strength and coordination. […] Despite physical differences and other problems, with the right medical care, early intervention, and ongoing support, a boy with Klinefelter syndrome can lead a normal, healthy, and productive life.

• #43 Klinefelter Syndrome Treatment & Management: Medical Care, Surgical Care, Consultations

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

  Early identification and anticipatory guidance are extremely helpful in Klinefelter syndrome. Management and treatment should focus on 3 major facets of the syndrome: hypogonadism, gynecomastia, and psychosocial problems. […] Androgen replacement therapy is an important aspect of treatment. […] Regularly scheduled testosterone injections promote strength and facial hair growth; build a more muscular body type; increase sexual desire; enlarge the testes; improve mood, self-image, and behavior; and protect against precocious osteoporosis. […] A multidisciplinary team approach can assist in improving speech impairments, academic difficulties, and other psychosocial and behavioral problems. […] Physical therapy is recommended for boys with hypotonia or delayed gross motor skills that may affect muscle tone, balance, and coordination. Occupational therapy is advised in boys with motor dyspraxia.

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

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

  People with Klinefelter syndrome often have less testosterone than those without the condition. Some won’t start puberty at all, while others will start but then stop or regress. […] Replacing the testosterone hormone can help minimize some of the symptoms of the condition. […] Healthcare providers usually recommend testosterone injections in children and teens. Adults may receive other types of treatment, including testosterone gels, testosterone patches, and testosterone subcutaneous pellets. […] If you have Klinefelter syndrome, you can benefit from different types of therapy. As part of your treatment, you might see speech-language pathologists (SLPs) to help with speech development, physical therapists to help build muscle, occupational therapists to help improve motor skills and coordination, and emotional, behavioral and family therapists for psychological support.

• #45 Update On The Clinical Perspectives And Care Of The Child With 47,XXY | TACG

  https://www.dovepress.com/update-on-the-clinical-perspectives-and-care-of-the-child-with-47xxy-k-peer-reviewed-fulltext-article-TACG

  47,XXY (Klinefelter syndrome [KS]) is the most common sex chromosomal aneuploidy (1:660), yet, despite this, only 25% of the males are ever diagnosed. […] Studies have demonstrated that optimal outcomes are dependent on early detection combined with consistent and targeted neurodevelopmental treatment throughout the lifespan. […] Early neurodevelopmental and hormonal treatment has been shown to have a minimizing effect on the physical and neurodevelopmental manifestations in individuals with 47,XXY. […] The emergence of the QR-PCR test has provided an additional noninvasive mechanism in which chromosomal aneuploidies, such as 47,XXY, can be detected prenatally. […] Without early hormonal therapy (EHT), these boys may struggle with all aspects of motor planning in speech and motor domains throughout their lives.

• #46 Klinefelter Syndrome Treatment & Management: Medical Care, Surgical Care, Consultations

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

  Mastectomy may be indicated for gynecomastia, which can place considerable psychological strain on the patient. […] Consultations may include the following: Clinical geneticist/genetic counselor, Endocrinologist (treatment approach to androgen replacement therapy), Surgeon (evaluation for breast tissue removal), Dentist (focus on dental health preservation/restoration), Psychologist, Speech therapist. […] In a mixed-method study by Close et al, parents reported that a lack of guidance and case coordination increased the challenges of providing childcare for their sons with Klinefelter syndrome.

• #47 Get Klinefelter Syndrome Treatment | Cleveland Clinic Children’s

  https://my.clevelandclinic.org/pediatrics/services/klinefelter-syndrome-treatment

  If your child has Klinefelter syndrome, they may have low levels of the hormone testosterone. Often, when theyre teenagers, their testicles cant make sperm or testosterone. This means your child might not start puberty or start and then stop again. It can cause growth and development issues, infertility and mental and emotional challenges. […] If your child has Klinefelter syndrome, they can develop extra breast tissue that doesnt go away as they grow. If it causes problems or bothers your child, your providers might decide to do reduction surgery to remove the excess tissue. Your childs providers will talk with you and your child about what to expect before, during and after surgery. Typically, people wait until theyre adults for this procedure. […] Learning that you child may have Klinefelter syndrome can have an impact on your whole family. You might be feeling confused, worried and wondering whats next. Well take time to go over what this diagnosis means, what you can expect from treatment and how your whole family can be involved in managing daily life. For us, its more than just treatment for your child. Well build a lasting relationship with your family and give you the support you need every step of the way.

• #48 Klinefelter Syndrome: Symptoms & Treatment | Stockbridge, GA

  https://ugatl.com/services/male-infertility/klinefelter-syndrome/

  If you need advice, diagnostic testing, or treatment, dont hesitate to speak to the board-certified urologists at Urology of Greater Atlanta. They have extensive experience in diagnosing and treating Klinefelter Syndrome. So make an appointment today by phone or online for expert urological care. […] There are several different treatments for those diagnosed with Klinefelter syndrome. […] Some of the treatments used to treat the symptoms of Klinefelter syndrome include: […] Surgery: Those with Klinefelter syndrome often have larger breast tissue than other males. Usually, this extra breast growth can be very bothersome to the person. In some cases, a healthcare provider will suggest that the person with Klinefelter syndrome undergo surgery to remove extra breast tissue. Breast tissue reduction surgery can often help individuals with Klinefelter syndrome to be happier with their overall appearance and can boost their confidence. It is recommended that breast tissue reduction surgery be performed on adults instead of young boys or teenagers.

• #49 What are the treatments for symptoms in Klinefelter syndrome (KS)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

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

  Its important to remember that because symptoms can be mild, many males with KS are never diagnosed or treated. […] The earlier in life that KS symptoms are recognized and treated, the more likely it is that the symptoms can be reduced or eliminated. […] It is especially helpful to begin treatment by early puberty. […] The type of treatment needed depends on the type of symptoms being treated. […] Males taking testosterone treatment should work closely with an endocrinologist, a doctor who specializes in hormones and their functions, to ensure the best outcome from testosterone therapy. […] XXY males who are thinking about mastectomy should discuss all the risks and benefits with their health care provider. […] Advances in assistive reproductive technology (ART) have made it possible for some men with KS to conceive.

• #50 Klinefelter Syndrome | AAFP

  https://www.aafp.org/pubs/afp/issues/2005/1201/p2259.html

  Androgen therapy should be started when there is direct laboratory evidence of a testosterone deficit or when hypergonadotrophism, which suggests such a deficit, is present. This may occur by the time the patient begins middle school (i.e., 12 to 14 years of age). […] Consideration of Klinefelter syndrome as a diagnosis and investigation with a standard karyotype are important because of the therapeutic benefit of testosterone supplementation. Clinical suspicion warrants diagnostic investigation to ensure appropriate surveillance for testosterone deficit. […] Because gynecomastia predisposes men to breast cancer the frequency of breast cancer is 20 to 50 times greater than in men who do not have Klinefelter syndrome monthly breast self-examination should be encouraged. If necessary for cosmetic reasons, gynecomastia may be treated surgically. […] Infertility in men with Klinefelter syndrome is caused by a precipitous drop in sperm count. If sperm are present, cryopreservation is useful for future family planning with intracytoplasmic sperm injection, and if not, testicular sperm extraction may be pursued.

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

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

  Therapy. Speech and language therapy can help if there are speech or language problems. Physical therapy can help with motor skills and muscle strength. Occupational therapy can help with social skills and job skills. […] Mental health support. Having Klinefelter syndrome can be a challenge, especially during puberty and young adulthood. Coping with infertility also can be a challenge. A family therapist, counselor or psychologist can help work through emotional concerns. […] Treatment, health education and social support can greatly benefit people with Klinefelter syndrome. […] If you have a child with Klinefelter syndrome, you can help with healthy mental, physical, emotional and social development. […] Keep regular follow-up appointments with medical professionals. This may help prevent future problems.

• #52 Klinefelter Syndrome: Symptoms, Causes, Treatments, and More

  https://www.healthline.com/health/klinefelter-syndrome

  A therapist or counselor can help you manage any depression, low self-esteem, or other emotional issues that stem from this condition. […] You may also look for a support group, where you can talk with others who have this condition. You can find support groups through your doctor or online. […] Children with Klinefelter syndrome often need extra help in school. Contact your local school district to find out about special programs for kids with disabilities. You might be able to get an Individualized Education Program, which helps tailor a learning program to suit your childs needs. […] Many children with Klinefelter syndrome have more trouble interacting socially than their peers. An occupational or behavioral therapist can help them learn social skills.

• #53 Klinefelter syndrome A general practice perspective

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

  General practitioners have a role in monitoring men with KS for comorbidities, which are outlined in Table 2. A full blood examination, thyroid function test, cholesterol and fasting blood glucose levels should be performed every two years. […] Men with KS may also benefit from allied health support. Although reliant on a case-by-case assessment, educational support, speech therapy, and physical and occupational therapy can be useful management strategies that can provide improved outcomes. […] Referral to a clinical geneticist should be considered, particularly for Men who have questions about the genetics of KS. Referral to a psychiatrist should also be considered where psychiatric comorbidities exist. […] Finally, all men with KS, and their parents if appropriate, should be offered the opportunity to be linked in with KS support groups. Support groups have been demonstrated to relieve some of the anxiety associated with a new diagnosis and the uncertainties surrounding prognosis.

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

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

  Therapy. Speech and language therapy can help if there are speech or language problems. Physical therapy can help with motor skills and muscle strength. Occupational therapy can help with social skills and job skills. […] Mental health support. Having Klinefelter syndrome can be a challenge, especially during puberty and young adulthood. Coping with infertility also can be a challenge. A family therapist, counselor or psychologist can help work through emotional concerns. […] Treatment, health education and social support can greatly benefit people with Klinefelter syndrome. […] If you have a child with Klinefelter syndrome, you can help with healthy mental, physical, emotional and social development. […] Keep regular follow-up appointments with medical professionals. This may help prevent future problems.

• #55 Klinefelter Syndrome | Dayton Children’s Hospital

  https://www.childrensdayton.org/kidshealth/a/klinefelter-syndrome

  Klinefelter syndrome is a fairly common genetic condition found in males only. […] The XXY condition that causes Klinefelter syndrome can’t be changed, but medical treatment and working with therapists can help a boy’s development and lessen the condition’s effects. […] Many boys with Klinefelter syndrome show symptoms related to their development of social and language skills. […] Most boys with Klinefelter syndrome can have sex when they become men, usually with the help of testosterone treatment. […] There’s no way to change the XXY condition if a boy is born with it, but treatments can help relieve some symptoms. […] Testosterone replacement therapy (TRT) works by increasing a boy’s testosterone levels into the normal range. […] Educational support services can help boys and teens with Klinefelter syndrome keep pace in school.

• #56 Klinefelter Syndrome Program | Lurie Children’s

  https://www.luriechildrens.org/en/specialties-conditions/klinefelter-syndrome-program/

  The Klinefelter Syndrome Program at Lurie Children’s offers interdisciplinary care spanning from prenatal consultation to young adulthood for individuals with Klinefelter Syndrome (also referred to as 47,XXY). […] It is important for all people with Klinefelter syndrome to receive regular care with knowledgeable clinicians. […] Our program values the importance of psychosocial support for individuals and families. […] We recommend patients are seen in our clinic every 1-2 years during childhood. […] Return appointments are also a good time for patients and families to ask questions and learn updates about advances in Klinefelter syndrome care and research. […] We recommend all individuals with Klinefelter syndrome have neuropsychology testing around the time of school entry (1st or 2nd grade). […] The information from this testing helps children who need it receive support at school to promote academic excellence.

• #57 Klinefelter Syndrome – StatPearls – NCBI Bookshelf

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

  Objectives: […] Implement personalized, evidence-based interventions for Klinefelter syndrome, focusing on hormonal treatments, speech and language therapies, and psychosocial support. […] Collaborate with an interprofessional healthcare team to provide comprehensive care for individuals with Klinefelter syndrome. […] Earlier diagnosis, often prenatally, allows timely developmental evaluation and early intervention to support neuropsychological outcomes. […] Common behavioral and mental health concerns include anxiety and depression, and referral to behavioral health services can provide substantial benefit. […] Supervised testosterone supplementation by a pediatric endocrinologist may mitigate physical manifestations traditionally associated with this condition. […] All affected individuals should undergo screening for autism spectrum disorder.

• #58 Integrated Care Approach Benefits Patients with Klinefelter Syndrome | Lurie Children’s

  https://www.luriechildrens.org/en/news-stories/integrated-care-approach-benefits-patients-with-klinefelter-syndrome/

  The Klinefelter Syndrome Program at Ann Robert H. Lurie Children’s Hospital offers comprehensive care for individuals with Klinefelter syndrome. […] The program is led by pediatric endocrinologist Courtney Finlayson, MD. […] The clinic brings integrates specialists from endocrinology, urology, genetic counseling, social work, psychology, and neuropsychology. […] Each patients care team is tailored to their unique needs, and adapts as their needs change. […] Neuropsychology is a unique resource of the program, offering testing during key transitional periods of childhood to support the needs of pediatric patients as they mature. […] Lurie Childrens Klinefelter Syndrome Program offers prenatal consultations through The Chicago Institute for Fetal Health, which includes genetic counseling and a discussion with a pediatric endocrinologist.

• #59 What are the treatments for symptoms in Klinefelter syndrome (KS)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

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

  The earlier treatment begins, the better the outcomes. […] Parents might need to bring these types of problems to the teachers attention. […] Boys and men with KS can benefit by visiting therapists who are experts in areas such as coordination, social skills, and coping. […] Parents of XXY males have also mentioned that taking part in physical activities at low-key levels, such as karate, swimming, tennis, and golf, were helpful in improving motor skills, coordination, and confidence. […] Some school districts and health centers might also offer these types of skill-building programs or classes. […] In these instances, consulting a psychologist, counselor, or psychiatrist may be helpful.

• #60 Klinefelter Syndrome: Symptoms, Causes, Treatments, and More

  https://www.healthline.com/health/klinefelter-syndrome

  A therapist or counselor can help you manage any depression, low self-esteem, or other emotional issues that stem from this condition. […] You may also look for a support group, where you can talk with others who have this condition. You can find support groups through your doctor or online. […] Children with Klinefelter syndrome often need extra help in school. Contact your local school district to find out about special programs for kids with disabilities. You might be able to get an Individualized Education Program, which helps tailor a learning program to suit your childs needs. […] Many children with Klinefelter syndrome have more trouble interacting socially than their peers. An occupational or behavioral therapist can help them learn social skills.

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

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

  Children with Klinefelter syndrome may also need changes in their classrooms or learning environments. If your child has this condition, they may qualify for special help in school to adapt the lessons in a way that works for them. […] If the excess breast tissue bothers you, your healthcare provider may recommend gynecomastia surgery to remove the extra tissue. Most healthcare providers recommend waiting until adulthood to have this procedure. […] If you or your child has Klinefelter syndrome, it’s important to meet with a genetic counselor as soon as you receive a diagnosis. An endocrinologist can also discuss the timing of initiating testosterone replacement. […] Treatment can help people with this condition live full, happy, healthy lives. […] Your child’s healthcare provider can examine your child and ask about their symptoms. They may run tests to determine if your child has Klinefelter syndrome or other genetic conditions. […] Because people with Klinefelter syndrome are more prone to certain health conditions, it’s important to have routine checkups with your primary care provider.

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

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

  Therapy. Speech and language therapy can help if there are speech or language problems. Physical therapy can help with motor skills and muscle strength. Occupational therapy can help with social skills and job skills. […] Mental health support. Having Klinefelter syndrome can be a challenge, especially during puberty and young adulthood. Coping with infertility also can be a challenge. A family therapist, counselor or psychologist can help work through emotional concerns. […] Treatment, health education and social support can greatly benefit people with Klinefelter syndrome. […] If you have a child with Klinefelter syndrome, you can help with healthy mental, physical, emotional and social development. […] Keep regular follow-up appointments with medical professionals. This may help prevent future problems.

• #63 Klinefelter Syndrome | Kaiser Permanente

  https://healthy.kaiserpermanente.org/health-wellness/health-encyclopedia/he.klinefelter-syndrome.hw183686

  Be actively involved in your child’s care. Talk with your doctor about the treatment. If counseling for behavioral problems is needed, or if your child has difficulty reading or has poor verbal skills, get help from qualified professionals who have experience working with children who have Klinefelter syndrome. […] Encourage your child to take part in activities to improve physical motor skills, such as karate, soccer, basketball, baseball, or swimming. […] Work with your child’s teachers, principal, and school administrators. […] Encourage your child’s independence. Although it is important to be supportive, realize that watching over your child too much can send the message that you think they are not able to do things on their own.

• #64 Klinefelter Syndrome – Women’s Health – Associates for Women’s Medicine – Syracuse NY Gynecologist, Gynecology, Obstetrics, OBGYN, OB Physicians, Syracuse New York, Fayetteville, North Syracuse, LiverpoolKlinefelter Syndrome

  https://www.afwomensmed.com/health-library/hw-view.php?DOCHWID=hw183686

  Encourage your child to take part in activities to improve physical motor skills, such as karate, soccer, basketball, baseball, or swimming. […] Work with your child’s teachers, principal, and school administrators. […] Provide articles and pamphlets about Klinefelter syndrome to your child’s teachers and school principal.

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

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

  Therapy. Speech and language therapy can help if there are speech or language problems. Physical therapy can help with motor skills and muscle strength. Occupational therapy can help with social skills and job skills. […] Mental health support. Having Klinefelter syndrome can be a challenge, especially during puberty and young adulthood. Coping with infertility also can be a challenge. A family therapist, counselor or psychologist can help work through emotional concerns. […] Treatment, health education and social support can greatly benefit people with Klinefelter syndrome. […] If you have a child with Klinefelter syndrome, you can help with healthy mental, physical, emotional and social development. […] Keep regular follow-up appointments with medical professionals. This may help prevent future problems.

• #66 Johns Hopkins Klinefelter Syndrome Center

  https://klinefelter.jhu.edu/

  Mission: We are a comprehensive multidisciplinary health care system designed to care for boys and men with KS. Our medical specialists act as a team to provide the most up to date services to maintain the long-term health of men with KS. […] Treatment can help males overcome many of the physical, social, and learning problems that are part of the syndrome. Males with Klinefelter syndrome should be seen by a team of health care providers. The team may include endocrinologists, general practitioners, pediatricians, urologists, speech therapists, genetic counselors, and psychologists. Surgery may be needed to reduce breast size. With treatment, men can lead very normal lives. […] Experts recommend testosterone replacement, starting during puberty, for proper development of muscles, bones, male sex characteristics such as facial hair, and sexual function. Continued treatment throughout life helps prevent long-term health problems. Testosterone replacement does not cure infertility, however. Infertility treatments require specializedand costlytechniques, but some men with Klinefelter syndrome have been able to father children.

• #67 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. […] Atrium Health Wake Forest Baptist offers a complete range of intervention services for patients of all ages at increased risk of infertility. We have a multidisciplinary team to provide any individualized services needed. […] Treatment with testosterone and/or a medicine to prevent excess estrogen production may be given to help normalize secondary sexual development and improve libido, strength, mood and thinking. […] Wake Forest Baptist is one of the few centers in the world that focuses on preserving fertility in boys with Klinefelter syndrome. They are offered the opportunity to bank a small piece of testicular tissue. […] Wake Forest Baptist Medical Center, Department of Urology and Center for Reproductive Medicine have collaborated to offer puberty and fertility preservation management for variations of X and Y chromosome abnormalities (including Klinefelter 47 XXY and 48 XXYY). Clinical Services include medical evaluation and management of hypogonadism, testicular elastography ultrasound, electorejaculation (EEJ), and microscopic testicular sperm extraction (TESE). Experimental services include spermatogonial stem cell banking for fertility preservation. Children, adolescents and adults are offered a „single day” encounter to bring together team members to provide individualized services.

• #68 Klinefelter Syndrome | AAFP

  https://www.aafp.org/pubs/afp/issues/2005/1201/p2259.html

  Androgen therapy should be started when there is direct laboratory evidence of a testosterone deficit or when hypergonadotrophism, which suggests such a deficit, is present. This may occur by the time the patient begins middle school (i.e., 12 to 14 years of age). […] Consideration of Klinefelter syndrome as a diagnosis and investigation with a standard karyotype are important because of the therapeutic benefit of testosterone supplementation. Clinical suspicion warrants diagnostic investigation to ensure appropriate surveillance for testosterone deficit. […] Because gynecomastia predisposes men to breast cancer the frequency of breast cancer is 20 to 50 times greater than in men who do not have Klinefelter syndrome monthly breast self-examination should be encouraged. If necessary for cosmetic reasons, gynecomastia may be treated surgically. […] Infertility in men with Klinefelter syndrome is caused by a precipitous drop in sperm count. If sperm are present, cryopreservation is useful for future family planning with intracytoplasmic sperm injection, and if not, testicular sperm extraction may be pursued.

• #69 Klinefelter Syndrome | Patient Care

  https://weillcornell.org/services/urology/male-infertility-and-sexual-medicine/conditions-we-treat/klinefelter-syndrome

  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. […] With leadership between Urology, Endocrinology, and Medical Genetics, we have a multidisciplinary team of specialists to provide care at all ages.

• #70 Klinefelter Syndrome – Symptoms and Causes

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

  Physical therapy is recommended for boys with hypotonia or delayed gross motor skills that may affect muscle tone, balance, and coordination. […] Until 1996, men with Klinefelter syndrome were considered infertile. […] A study of 42 men with Klinefelter syndrome revealed a sperm retrieval rate of 72% per testicular sperm extraction attempt, with adequate sperm for ICSI found in 69% of subjects (29 of 42 men). […] Mastectomy may be indicated for gynecomastia, which can place considerable psychological strain on the patient.

• #71 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. […] Treatment focuses on testosterone therapy, typically starting in adolescence and continuing lifelong, together with neuropsychological and educational support tailored to the individuals age and symptoms. Assisted reproductive technologies such as testicular sperm extraction have improved the prospects for men with KS to father biological children, although use of donor sperm or adoption remains a common alternative for many affected individuals. […] Men with KS have a significantly increased risk of many long-term health conditions, including diabetes, cardiovascular disease, osteoporosis, and breast cancer.

• #72 Klinefelter Syndrome – Symptoms and Causes

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

  Physical therapy is recommended for boys with hypotonia or delayed gross motor skills that may affect muscle tone, balance, and coordination. […] Until 1996, men with Klinefelter syndrome were considered infertile. […] A study of 42 men with Klinefelter syndrome revealed a sperm retrieval rate of 72% per testicular sperm extraction attempt, with adequate sperm for ICSI found in 69% of subjects (29 of 42 men). […] Mastectomy may be indicated for gynecomastia, which can place considerable psychological strain on the patient.

• #73 UNDERSTANDING KLINEFELTER SYNDROME AN OVERVIEW AND NURSING CONSIDERATIONS | Society for Endocrinology

  https://www.endocrinology.org/endocrinologist/143-spring-22/features/understanding-klinefelter-syndrome-an-overview-and-nursing-considerations/

  Adopting a Nursing Process framework, the endocrine nurse provides a systematic approach to decision making and care planning, comprised of five stages: assessment, diagnosis, planning, implementation and evaluation. The patient and his partner should be actively involved in the decision-making process and consulted throughout the duration of the fertility treatment. […] The endocrine nurse plays a crucial role in providing the patient with the relevant information about the fertility treatment changes and the TESE surgical procedure, including a detailed explanation of the success rates, based on available research and statistics from their local centre. […] For successful implementation of the agreed care plan, the endocrine nurse needs to ensure that the patient understands the information provided regarding fertility treatment, and provides him with the opportunity to ask questions.

• #74 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. […] Treatment focuses on testosterone therapy, typically starting in adolescence and continuing lifelong, together with neuropsychological and educational support tailored to the individuals age and symptoms. Assisted reproductive technologies such as testicular sperm extraction have improved the prospects for men with KS to father biological children, although use of donor sperm or adoption remains a common alternative for many affected individuals. […] Men with KS have a significantly increased risk of many long-term health conditions, including diabetes, cardiovascular disease, osteoporosis, and breast cancer.

• #75 Klinefelter syndrome: Symptoms & treatment | Healthy Male

  https://healthymale.org.au/mens-health/klinefelter-syndrome

  Infants and children with Klinefelter syndrome should be examined by their doctor at least every two years to monitor their physical development. […] They may need support from specialists to manage any problems with speech, learning, behaviour or psychiatric issues. […] Testosterone treatment might be prescribed for boys with Klinefelter syndrome who have a very small penis. […] Monitoring the growth and hormone function of boys with Klinefelter syndrome in the lead-up to puberty helps guide decisions about testosterone treatment, which may become necessary. […] Testosterone treatment is recommended to many adults with Klinefelter syndrome. […] If you have Klinefelter syndrome and are not receiving testosterone treatment, your hormonal function should be checked every 12 months.

• #76 Klinefelter Syndrome | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/klinefelter-syndrome

  Boys with Klinefelter syndrome should follow up with the endocrinologist to monitor progression in puberty, hormone levels and adjust medication as needed. […] Depending on your child’s condition, long-term care may be needed. At the Adrenal and Puberty Center, we bring endocrinologists, geneticists, urologists, counselors and nurses together to deliver the best-coordinated care for your child. […] In the Klinefelter and Other X and Y Chromosome Variations Program, our team will work with your family to develop an individualized plan to treat and monitor your child’s condition. […] Some boys function quite normally, but learning and psychosocial difficulties may be seen in a significant number. These boys benefit from evaluation by a neurodevelopmental pediatrician, early intervention or behavior therapy.

• #77 Klinefelter (XXY) syndrome | healthdirect

  https://www.healthdirect.gov.au/klinefelter-syndrome

  Klinefelter syndrome is a congenital (from birth) condition where males are born with one or more extra X chromosomes. […] Many people with Klinefelter syndrome don’t know they have it and have never received treatment. […] Testosterone therapy is usually started at puberty and can help with many of the features of Klinefelter syndrome. […] Children with Klinefelter syndrome should see their doctor at least every 2 years to check their physical development. Many children with Klinefelter may need specialist help for speech, learning, behaviour or psychiatric issues. […] Testosterone therapy can help with the symptoms of Klinefelter syndrome. This treatment should begin at puberty or as soon as possible after puberty begins. […] If you have Klinefelter syndrome and are not receiving testosterone therapy, visit your doctor every 12 months to check your hormone levels.

• #78 Klinefelter syndrome A general practice perspective

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

  General practitioners have a role in monitoring men with KS for comorbidities, which are outlined in Table 2. A full blood examination, thyroid function test, cholesterol and fasting blood glucose levels should be performed every two years. […] Men with KS may also benefit from allied health support. Although reliant on a case-by-case assessment, educational support, speech therapy, and physical and occupational therapy can be useful management strategies that can provide improved outcomes. […] Referral to a clinical geneticist should be considered, particularly for Men who have questions about the genetics of KS. Referral to a psychiatrist should also be considered where psychiatric comorbidities exist. […] Finally, all men with KS, and their parents if appropriate, should be offered the opportunity to be linked in with KS support groups. Support groups have been demonstrated to relieve some of the anxiety associated with a new diagnosis and the uncertainties surrounding prognosis.

• #79 Frontiers | Klinefelter Syndrome and the Need for a Multi-Disciplinary Approach

  https://www.frontiersin.org/journals/reproductive-health/articles/10.3389/frph.2021.622144/full

  Endocrinologist can manage and treat the physical symptoms brought about by the low levels of testosterone, using testosterone replacement therapy (TRT). Urologist can offer fertility treatment such as Hormone Manipulation Therapy (HRT) to increase their sperm count and microsurgical sperm extraction. […] As these patients are predisposed to developing secondary diseases mentioned earlier, they require long term monitoring of their blood pressure, glucose controls, bone health, and lipid levels. […] An MDT approach allows the clinicians managing the different aspects of the patients’ needs to collaborate effectively and efficiently, allowing for a more comprehensive and holistic approach to patient care. […] Having the seven different specialities in our one clinic enables the team to come up with a single cohesive management plan for each patient. […] The clinic aims to increase awareness and education of KS in the healthcare community. One of the main reasons for the long waiting time for patients in primary care could be attributed to the lack of awareness of the possibility of KS as a diagnosis for these patients.

• #80 Klinefelter Syndrome | AAFP

  https://www.aafp.org/pubs/afp/issues/2005/1201/p2259.html

  Androgen therapy should be started when there is direct laboratory evidence of a testosterone deficit or when hypergonadotrophism, which suggests such a deficit, is present. This may occur by the time the patient begins middle school (i.e., 12 to 14 years of age). […] Consideration of Klinefelter syndrome as a diagnosis and investigation with a standard karyotype are important because of the therapeutic benefit of testosterone supplementation. Clinical suspicion warrants diagnostic investigation to ensure appropriate surveillance for testosterone deficit. […] Because gynecomastia predisposes men to breast cancer the frequency of breast cancer is 20 to 50 times greater than in men who do not have Klinefelter syndrome monthly breast self-examination should be encouraged. If necessary for cosmetic reasons, gynecomastia may be treated surgically. […] Infertility in men with Klinefelter syndrome is caused by a precipitous drop in sperm count. If sperm are present, cryopreservation is useful for future family planning with intracytoplasmic sperm injection, and if not, testicular sperm extraction may be pursued.

• #81 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. […] Treatment focuses on testosterone therapy, typically starting in adolescence and continuing lifelong, together with neuropsychological and educational support tailored to the individuals age and symptoms. Assisted reproductive technologies such as testicular sperm extraction have improved the prospects for men with KS to father biological children, although use of donor sperm or adoption remains a common alternative for many affected individuals. […] Men with KS have a significantly increased risk of many long-term health conditions, including diabetes, cardiovascular disease, osteoporosis, and breast cancer.

• #82 Klinefelter Syndrome Follow-up: Further Outpatient Care, Further Inpatient Care, Inpatient & Outpatient Medications

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

  Management of Klinefelter syndrome includes the following: […] Endocrinologist – To assist in management and treatment with testosterone replacement therapy […] Speech therapy […] Occupational and physical therapy […] Behavioral consultation […] Regular exercise and upper body strengthening. […] Admission for supportive care is not necessary in patients with Klinefelter syndrome. […] Administer regular testosterone injections. […] All patients with Klinefelter syndrome should be informed about the increased risk of deep vein thrombosis and should have their hematocrit levels monitored to avoid increased viscosity. […] Hypogonadism, low libido, and psychosocial problems can be helped by testosterone treatment. […] Gynecomastia can be corrected by mastectomy.

• #83 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. The clinical features were first described in males with tall stature, small testes, gynecomastia, and azoospermia. […] Androgen replacement, along with neuropsychological and adaptive therapies, frequently supports effective medical management. […] In addition to infertility, individuals with Klinefelter syndrome are at increased risk for complications such as osteoporosis, metabolic syndrome, breast cancer, and autoimmune disorders. However, early diagnosis and comprehensive care, including hormonal, psychological, and educational support, can help many individuals achieve good long-term outcomes. […] This activity for healthcare professionals is designed to enhance learners’ competence in evaluating and managing Klinefelter syndrome. […] Enhanced proficiency enables clinicians to collaborate more effectively within interprofessional teams, leading to improved outcomes for individuals with Klinefelter syndrome.

• #84 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. […] The XXY condition that causes Klinefelter syndrome can’t be changed, but medical treatment and working with therapists can help a boy’s development and lessen the condition’s effects. […] There’s no way to change the XXY condition if a boy is born with it, but treatments can help relieve some symptoms. As with many conditions, beginning treatment early can make it much more effective. […] Testosterone replacement therapy (TRT) works by increasing a boy’s testosterone levels into the normal range. Additional testosterone can help a boy with Klinefelter syndrome develop bigger muscles and a deeper voice, as well as promote growth of the penis and facial and body hair. […] Educational support services can help boys and teens with Klinefelter syndrome keep pace in school. Many benefit from extra help with schoolwork.

• #85 Learning about things larger than you | Nursing Magazine | Emory University

  https://emorynursingmagazine.emory.edu/issues/2019/fall/features/learning-about-things-larger-than-you/index.html

  Boys and girls born with these disorders, also called X and Y variations, often face a tough road. […] Children may grow to be unusually tall, have an atypical body shape, and have hormonal problems during puberty that affect adult fertility. […] Until recently, families of children with X and Y variations had few places to turn for help. […] Even with a correct diagnosis, providers have been hard pressed to help patients because of the dearth of awareness and research on how best to manage sex chromosome disorders. […] Blumling is responsible for taking patient histories, performing physical and developmental assessments on babies and young children, and coordinating care with clinic specialists and community resources. […] We help get people connected, Blumling says. […] But we know from the trajectory of their disorder that they need to start seeing certain specialists, such as an endocrinologist or a gynecologist during puberty. […] Parents really appreciate coming to the clinic, she adds. Its a beacon of hope for them because they find people who really understand what theyre going through. It gives them hope that their children can get the care and services they need.

• #86 Klinefelter Syndrome Clinic

  https://www.massgeneral.org/children/klinefelter-syndrome

  The focus of care shifts to address issues related to puberty, weight, and metabolism, as well as initiating testosterone replacement therapy as needed. […] In addition to fertility-related care, we provide multispecialty, coordinated care, even throughout the most senior years. […] With joint leadership between Medical Genetics and Reproductive Endocrinology, we have assembled a multidisciplinary team of medical, surgical, and neuropsychological specialists. […] Klinefelter syndrome is a genetic condition in which boys are born with an extra copy of the X chromosome (XXY). This condition may lead to various medical problems, which may include small testes, infertility, and learning and mental health challenges. However, not everyone experiences the same problems. Most people with Klinefelter syndrome lead healthy lives with proper medical care and education.

• #87 Klinefelter Syndrome Clinic

  https://www.massgeneral.org/children/klinefelter-syndrome

  The focus of care shifts to address issues related to puberty, weight, and metabolism, as well as initiating testosterone replacement therapy as needed. […] In addition to fertility-related care, we provide multispecialty, coordinated care, even throughout the most senior years. […] With joint leadership between Medical Genetics and Reproductive Endocrinology, we have assembled a multidisciplinary team of medical, surgical, and neuropsychological specialists. […] Klinefelter syndrome is a genetic condition in which boys are born with an extra copy of the X chromosome (XXY). This condition may lead to various medical problems, which may include small testes, infertility, and learning and mental health challenges. However, not everyone experiences the same problems. Most people with Klinefelter syndrome lead healthy lives with proper medical care and education.

• #88 Klinefelter Syndrome and other X,Y Aneuploidy Conditions Program | Mount Sinai – New York

  https://www.mountsinai.org/locations/kravis-childrens/services/pediatric-endocrinology-diabetes/klinefelter-syndrome

  Children and adolescents with chromosome-related conditions require expert care as they grow, from childhood into young adulthood. We provide comprehensive care, from treatment to screening and education, all in one convenient location. Our team of specialists address developmental needs for academic and social success, hormonal requirements for normal growth and puberty, and fertility preservation options including surgical and hormonal options. Here at Mount Sinai, we provide patients with the support they need to live a healthy and successful life.

• #89 Get Klinefelter Syndrome Treatment | Cleveland Clinic Children’s

  https://my.clevelandclinic.org/pediatrics/services/klinefelter-syndrome-treatment

  If your child has Klinefelter syndrome, they may have low levels of the hormone testosterone. Often, when theyre teenagers, their testicles cant make sperm or testosterone. This means your child might not start puberty or start and then stop again. It can cause growth and development issues, infertility and mental and emotional challenges. […] If your child has Klinefelter syndrome, they can develop extra breast tissue that doesnt go away as they grow. If it causes problems or bothers your child, your providers might decide to do reduction surgery to remove the excess tissue. Your childs providers will talk with you and your child about what to expect before, during and after surgery. Typically, people wait until theyre adults for this procedure. […] Learning that you child may have Klinefelter syndrome can have an impact on your whole family. You might be feeling confused, worried and wondering whats next. Well take time to go over what this diagnosis means, what you can expect from treatment and how your whole family can be involved in managing daily life. For us, its more than just treatment for your child. Well build a lasting relationship with your family and give you the support you need every step of the way.

• #90 Klinefelter Syndrome | Kaiser Permanente

  https://healthy.kaiserpermanente.org/health-wellness/health-encyclopedia/he.klinefelter-syndrome.hw183686

  People with Klinefelter syndrome can be given testosterone, a hormone needed for sexual development. If treatment is started around the age of puberty, it can help adolescents with the sexual development of their bodies. […] Speech therapy and educational support can help children who have language or learning problems. […] If your child has been diagnosed with Klinefelter syndrome: Recognize your feelings. It is natural for parents to feel that they have done something to cause Klinefelter syndrome. But this condition is beyond anyone’s control. Allow yourself time to deal with your feelings, and talk with your child’s doctor about your concerns. […] Educate yourself about the condition. Educating yourself will help you learn how to help your child. […] Support your child. Provide education about Klinefelter syndrome that is appropriate for their age and give them the emotional support and encouragement they need. Remind them that most people who have Klinefelter syndrome go through life with few problems.

• #91 Klinefelter Syndrome

  https://mentalhealth.networkofcare.org/princegeorges-md/HealthLibrary/Article?docType=na&articleId=hw183686

  Klinefelter syndrome is a genetic condition that affects males. Klinefelter syndrome occurs when someone is born with one or more extra X chromosomes. Most males have one Y and one X chromosome. Having extra X chromosomes can cause someone to have a variety of physical traits. […] Klinefelter syndrome usually is not diagnosed until the time of puberty. At this point, the child’s testicles fail to grow, and you may start to notice other symptoms. […] People with Klinefelter syndrome can be given testosterone, a hormone needed for sexual development. If treatment is started around the age of puberty, it can help adolescents with the sexual development of their bodies. […] Speech therapy and educational support can help children who have language or learning problems. […] If your child has been diagnosed with Klinefelter syndrome: Recognize your feelings. It is natural for parents to feel that they have done something to cause Klinefelter syndrome. But this condition is beyond anyone’s control. Allow yourself time to deal with your feelings, and talk with your child’s doctor about your concerns.

• #92 Klinefelter Syndrome | Kaiser Permanente

  https://healthy.kaiserpermanente.org/health-wellness/health-encyclopedia/he.klinefelter-syndrome.hw183686

  Be actively involved in your child’s care. Talk with your doctor about the treatment. If counseling for behavioral problems is needed, or if your child has difficulty reading or has poor verbal skills, get help from qualified professionals who have experience working with children who have Klinefelter syndrome. […] Encourage your child to take part in activities to improve physical motor skills, such as karate, soccer, basketball, baseball, or swimming. […] Work with your child’s teachers, principal, and school administrators. […] Encourage your child’s independence. Although it is important to be supportive, realize that watching over your child too much can send the message that you think they are not able to do things on their own.

• #93 Klinefelter syndrome A general practice perspective

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

  General practitioners have a role in monitoring men with KS for comorbidities, which are outlined in Table 2. A full blood examination, thyroid function test, cholesterol and fasting blood glucose levels should be performed every two years. […] Men with KS may also benefit from allied health support. Although reliant on a case-by-case assessment, educational support, speech therapy, and physical and occupational therapy can be useful management strategies that can provide improved outcomes. […] Referral to a clinical geneticist should be considered, particularly for Men who have questions about the genetics of KS. Referral to a psychiatrist should also be considered where psychiatric comorbidities exist. […] Finally, all men with KS, and their parents if appropriate, should be offered the opportunity to be linked in with KS support groups. Support groups have been demonstrated to relieve some of the anxiety associated with a new diagnosis and the uncertainties surrounding prognosis.

• #94 Klinefelter Syndrome: Symptoms, Causes, Treatments, and More

  https://www.healthline.com/health/klinefelter-syndrome

  A therapist or counselor can help you manage any depression, low self-esteem, or other emotional issues that stem from this condition. […] You may also look for a support group, where you can talk with others who have this condition. You can find support groups through your doctor or online. […] Children with Klinefelter syndrome often need extra help in school. Contact your local school district to find out about special programs for kids with disabilities. You might be able to get an Individualized Education Program, which helps tailor a learning program to suit your childs needs. […] Many children with Klinefelter syndrome have more trouble interacting socially than their peers. An occupational or behavioral therapist can help them learn social skills.

• #95 Johns Hopkins Klinefelter Syndrome Center

  https://klinefelter.jhu.edu/

  Mission: We are a comprehensive multidisciplinary health care system designed to care for boys and men with KS. Our medical specialists act as a team to provide the most up to date services to maintain the long-term health of men with KS. […] Treatment can help males overcome many of the physical, social, and learning problems that are part of the syndrome. Males with Klinefelter syndrome should be seen by a team of health care providers. The team may include endocrinologists, general practitioners, pediatricians, urologists, speech therapists, genetic counselors, and psychologists. Surgery may be needed to reduce breast size. With treatment, men can lead very normal lives. […] Experts recommend testosterone replacement, starting during puberty, for proper development of muscles, bones, male sex characteristics such as facial hair, and sexual function. Continued treatment throughout life helps prevent long-term health problems. Testosterone replacement does not cure infertility, however. Infertility treatments require specializedand costlytechniques, but some men with Klinefelter syndrome have been able to father children.

• #96 Integrated Care Approach Benefits Patients with Klinefelter Syndrome | Lurie Children’s

  https://www.luriechildrens.org/en/news-stories/integrated-care-approach-benefits-patients-with-klinefelter-syndrome/

  The Klinefelter Syndrome Program team is active in research and projects aiming to improve care for individuals with Klinefelter syndrome. […] The program is a member of Generating Advancements in Longitudinal Analysis in X Y Chromosome Variations (GALAXY) registry, a multi-center collaboration that aims to understand X and Y chromosome variations better. […] To foster appreciation and interest in exercise, the program is launched its first KidCamp for patients ages 10-16 years with Klinefelter syndrome. […] In conclusion, Lurie Children’s Klinefelter Syndrome Programs knowledgeable clinicians, comprehensive approach to care, and dedication to research make it a leader in the care of patients with Klinefelter syndrome.

• #97 Klinefelter Syndrome | Dayton Children’s Hospital

  https://www.childrensdayton.org/kidshealth/a/klinefelter-syndrome

  Speech therapy and physical therapy can help boys with Klinefelter syndrome learn to speak, read, and write better, or improve muscle strength and coordination. […] Despite physical differences and other problems, with the right medical care, early intervention, and ongoing support, a boy with Klinefelter syndrome can lead a normal, healthy, and productive life.

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

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

  Speech therapy and physical therapy can help boys with Klinefelter syndrome learn to speak, read, and write better, or improve muscle strength and coordination. […] Despite physical differences and other problems, with the right medical care, early intervention, and ongoing support, a boy with Klinefelter syndrome can lead a normal, healthy, and productive life.

• #99 Klinefelter Syndrome: Symptoms, Causes, Treatment

  https://resources.healthgrades.com/right-care/symptoms-and-conditions/klinefelter-syndrome

  Klinefelter syndrome is a genetic condition that can affect people assigned male at birth. Treatment involves testosterone therapy. […] Testosterone therapy is a treatment option for Klinefelter syndrome. When doctors diagnose it before or shortly after birth, they may prescribe testosterone during infancy. It will be necessary again when puberty starts. However, it can even be beneficial when the diagnosis occurs later in life. […] Children with Klinefelter syndrome may benefit from a range of supportive care. This can include educational support, psychological counseling, social skills training, and therapies, including physical, occupational, and speech-language. […] In most cases, males with Klinefelter syndrome can expect to live a full life. There is currently no cure for the condition, but testosterone replacement and support therapies can effectively manage it.

• #100 Klinefelter Syndrome – StatPearls – NCBI Bookshelf

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

  To ensure appropriate education, rapport, and a structured plan for monitoring and treatment, boys and their parents should engage with a pediatric endocrinologist around the onset of puberty. […] The decision to initiate androgen replacement should be individualized and may begin with the onset of puberty or be delayed until clear signs of hypogonadism emerge, which may not occur until late adolescence or early adulthood. […] Managing Klinefelter syndrome requires coordinated interprofessional care involving pediatricians, endocrinologists, geneticists, fertility specialists, and mental health professionals. […] Timely collaboration across specialties ensures comprehensive treatment that addresses hormonal, developmental, reproductive, and psychosocial needs. […] Individuals with Klinefelter syndrome benefit significantly from coordinated, interprofessional care involving endocrinologists, urologists, neurologists, psychiatrists, geneticists, internists, pediatricians, psychologists, speech therapists, and physical therapists. […] Long-term outcomes vary depending on mental health, with a slightly shorter lifespan than the general population.

• #101 Update On The Clinical Perspectives And Care Of The Child With 47,XXY | TACG

  https://www.dovepress.com/update-on-the-clinical-perspectives-and-care-of-the-child-with-47xxy-k-peer-reviewed-fulltext-article-TACG

  47,XXY (Klinefelter syndrome [KS]) is the most common sex chromosomal aneuploidy (1:660), yet, despite this, only 25% of the males are ever diagnosed. […] Studies have demonstrated that optimal outcomes are dependent on early detection combined with consistent and targeted neurodevelopmental treatment throughout the lifespan. […] Early neurodevelopmental and hormonal treatment has been shown to have a minimizing effect on the physical and neurodevelopmental manifestations in individuals with 47,XXY. […] The emergence of the QR-PCR test has provided an additional noninvasive mechanism in which chromosomal aneuploidies, such as 47,XXY, can be detected prenatally. […] Without early hormonal therapy (EHT), these boys may struggle with all aspects of motor planning in speech and motor domains throughout their lives.

• #102 Update On The Clinical Perspectives And Care Of The Child With 47,XXY | TACG

  https://www.dovepress.com/update-on-the-clinical-perspectives-and-care-of-the-child-with-47xxy-k-peer-reviewed-fulltext-article-TACG

  Research has shown that exogenous testosterone supplementation, usually in the form of hormonal replacement therapy (HRT), in mid-to-late puberty will allow for full pubertal development and age-appropriate attainment of secondary sexual characteristics. […] HRT may improve neurodevelopmental outcome during prepubertal years in boys with 47,XXY. […] The variability of these symptoms is mitigated by several factors, including family history, timing of diagnosis, access to early intervention, and biological treatment. […] HRT serves as a highly effective method of weight management when supplemented with a balanced and nutritional diet, as well as a well-rounded exercise regimen that includes a combination of aerobic exercise, muscle strength, and endurance training. […] The identification of any of these anomalies, specifically positional torticollis, requires immediate referral to pediatric physical therapy to manage and prevent secondary symptoms (such as plagiocephaly), and encourage appropriate motor development.

• #103 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. […] Treatment focuses on testosterone therapy, typically starting in adolescence and continuing lifelong, together with neuropsychological and educational support tailored to the individuals age and symptoms. Assisted reproductive technologies such as testicular sperm extraction have improved the prospects for men with KS to father biological children, although use of donor sperm or adoption remains a common alternative for many affected individuals. […] Men with KS have a significantly increased risk of many long-term health conditions, including diabetes, cardiovascular disease, osteoporosis, and breast cancer.

• #104 Integrated Care Approach Benefits Patients with Klinefelter Syndrome | Lurie Children’s

  https://www.luriechildrens.org/en/news-stories/integrated-care-approach-benefits-patients-with-klinefelter-syndrome/

  The Klinefelter Syndrome Program team is active in research and projects aiming to improve care for individuals with Klinefelter syndrome. […] The program is a member of Generating Advancements in Longitudinal Analysis in X Y Chromosome Variations (GALAXY) registry, a multi-center collaboration that aims to understand X and Y chromosome variations better. […] To foster appreciation and interest in exercise, the program is launched its first KidCamp for patients ages 10-16 years with Klinefelter syndrome. […] In conclusion, Lurie Children’s Klinefelter Syndrome Programs knowledgeable clinicians, comprehensive approach to care, and dedication to research make it a leader in the care of patients with Klinefelter syndrome.

• #105 Update On The Clinical Perspectives And Care Of The Child With 47,XXY | TACG

  https://www.dovepress.com/update-on-the-clinical-perspectives-and-care-of-the-child-with-47xxy-k-peer-reviewed-fulltext-article-TACG

  The social emotional profile of 47,XXY is variable, but these boys typically present as timid, and are often susceptible to heightened anxiety secondary to social language difficulties, particularly when hormonal replacement therapy has not been initiated in a timely manner. […] Further investigation of the restorative and beneficial impact of early diagnoses and biological treatment on the neurodevelopmental profile of these boys will generate increased access to knowledge of 47,XXY for genetic counselors, pediatric specialists, and primary care providers.

• #106 UNDERSTANDING KLINEFELTER SYNDROME AN OVERVIEW AND NURSING CONSIDERATIONS | Society for Endocrinology

  https://www.endocrinology.org/endocrinologist/143-spring-22/features/understanding-klinefelter-syndrome-an-overview-and-nursing-considerations/

  Klinefelter syndrome (KS) is a common aneuploidy in men, clinically characterised by small testes, gonadal failure (hypergonadotrophic hypogonadism), disrupted spermatogenesis (infertility), gynaecomastia and eunuchoid proportions (arm span exceeds height by 7cm). It affects 1 in 600 men, but 50-75% of men with KS go undiagnosed in their lifetime. Almost 90% of men with KS have an XXY karyotype, and the remaining 10% have mosaicism (46,XY/47,XXY), higher grade aneuploidy (48,XXXY/49,XXXXY), or structurally abnormal X chromosomes. […] Effective management of patients with KS undergoing fertility treatment requires a multidisciplinary approach, including endocrinology, andrology, genetic counselling, psychology and nursing. […] The endocrine nurse plays a vital role in supporting patients with their treatment management and suggesting psychological referral as appropriate.

• #107 UNDERSTANDING KLINEFELTER SYNDROME AN OVERVIEW AND NURSING CONSIDERATIONS | Society for Endocrinology

  https://www.endocrinology.org/endocrinologist/143-spring-22/features/understanding-klinefelter-syndrome-an-overview-and-nursing-considerations/

  Adopting a Nursing Process framework, the endocrine nurse provides a systematic approach to decision making and care planning, comprised of five stages: assessment, diagnosis, planning, implementation and evaluation. The patient and his partner should be actively involved in the decision-making process and consulted throughout the duration of the fertility treatment. […] The endocrine nurse plays a crucial role in providing the patient with the relevant information about the fertility treatment changes and the TESE surgical procedure, including a detailed explanation of the success rates, based on available research and statistics from their local centre. […] For successful implementation of the agreed care plan, the endocrine nurse needs to ensure that the patient understands the information provided regarding fertility treatment, and provides him with the opportunity to ask questions.

• #108 UNDERSTANDING KLINEFELTER SYNDROME AN OVERVIEW AND NURSING CONSIDERATIONS | Society for Endocrinology

  https://www.endocrinology.org/endocrinologist/143-spring-22/features/understanding-klinefelter-syndrome-an-overview-and-nursing-considerations/

  Evaluation will be completed at designated time points, such as clinic appointments to monitor treatment progress and the patients overall physical and psychological well-being. The partner should also be involved in the follow up consultations and supported for assisted fertility treatment planning, when micro-TESE is successful in retrieving healthy sperm.

• #109 Klinefelter Syndrome – StatPearls – NCBI Bookshelf

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

  Objectives: […] Implement personalized, evidence-based interventions for Klinefelter syndrome, focusing on hormonal treatments, speech and language therapies, and psychosocial support. […] Collaborate with an interprofessional healthcare team to provide comprehensive care for individuals with Klinefelter syndrome. […] Earlier diagnosis, often prenatally, allows timely developmental evaluation and early intervention to support neuropsychological outcomes. […] Common behavioral and mental health concerns include anxiety and depression, and referral to behavioral health services can provide substantial benefit. […] Supervised testosterone supplementation by a pediatric endocrinologist may mitigate physical manifestations traditionally associated with this condition. […] All affected individuals should undergo screening for autism spectrum disorder.

• #110 Learning about things larger than you | Nursing Magazine | Emory University

  https://emorynursingmagazine.emory.edu/issues/2019/fall/features/learning-about-things-larger-than-you/index.html

  Boys and girls born with these disorders, also called X and Y variations, often face a tough road. […] Children may grow to be unusually tall, have an atypical body shape, and have hormonal problems during puberty that affect adult fertility. […] Until recently, families of children with X and Y variations had few places to turn for help. […] Even with a correct diagnosis, providers have been hard pressed to help patients because of the dearth of awareness and research on how best to manage sex chromosome disorders. […] Blumling is responsible for taking patient histories, performing physical and developmental assessments on babies and young children, and coordinating care with clinic specialists and community resources. […] We help get people connected, Blumling says. […] But we know from the trajectory of their disorder that they need to start seeing certain specialists, such as an endocrinologist or a gynecologist during puberty. […] Parents really appreciate coming to the clinic, she adds. Its a beacon of hope for them because they find people who really understand what theyre going through. It gives them hope that their children can get the care and services they need.

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