• [ 1 ] The etiology was thought to be due to an endocrine disorder of unknown cause, until 1959, when Jacobs et al recognized that Klinefelter syndrome was a chromosomal disorder in which there is an extra X chromosome, resulting in the karyotype 47,XXY. (medscape.com)
  • Today, the term Klinefelter syndrome (KS) refers to a group of chromosomal disorders in which the normal male karyotype, 46,XY, has at least one extra X chromosome. (medscape.com)
  • Males with Klinefelter syndrome, who have an extra X chromosome, will also undergo X inactivation to have only one completely active X chromosome. (wikipedia.org)
  • In a nutshell, men with Klinefelter syndrome have an extra X chromosome. (sharedjourney.com)
  • Klinefelter syndrome occurs when a boy has one extra X chromosome. (msdmanuals.com)
  • Klinefelter males are born with at least one extra X chromosome in each of their cells. (wdxcyber.com)
  • In 1959, these men with Klinefelter syndrome were discovered to have an extra X chromosome (genotype XXY) instead of the usual male sex complement (genotype XY). (medscape.com)
  • Klinefelter syndrome , also known as the XXY condition, is a term used to describe males who have an extra X chromosome in most of their cells. (doctors.am)
  • Klinefelter syndrome is named after Dr. Henry Klinefelter, who first described a group of symptoms found in some men with the extra X chromosome. (doctors.am)
  • Even though all men with Klinefelter syndrome have the extra X chromosome, not every XXY male has all of those symptoms. (doctors.am)
  • Information prepared by Lisa Mawhood Klinefelter syndrome is a genetic disorder caused by the acquirement of an extra X chromosome in males (XXY instead of XY). (klinefeltersyndrome.org)
  • [ 3 ] It is also the most common chromosomal disorder associated with male hypogonadism and infertility. (medscape.com)
  • Klinefelter syndrome is characterized by hypogonadism (micro-orchidism [small testes], oligospermia/azoospermia), gynecomastia in late puberty, hyalinization and fibrosis of the seminiferous tubules, elevated urinary gonadotropin levels, and behavioral concerns. (medscape.com)
  • Management and treatment should focus on 3 major facets of the syndrome: hypogonadism, gynecomastia, and psychosocial problems. (medscape.com)
  • Few genetic disorders are reported in the literature which present with hypogonadism and mental-psychiatric conditions and like attention deficit, autism, depression, anxiety, hyperactivity disorder, schizophrenia, bipolar, and hypogonadism [7] [8]. (scirp.org)
  • Whether the morbidity associated with Klinefelter syndrome is a result of hypogonadism and hyperestrogenism or due to abnormal function of X chromosome linked genes is unclear. (medscape.com)
  • Klinefelter syndrome is the most common genetic form of male hypogonadism. (medscape.com)
  • The main group consisted of 21 patients with mean age of 15.9 years (17 boys, 4 girls) with congenital isolated hypogonadotropic hypogonadism (IHH): 13 - with Kallmann syndrome (KS), 8 with normosmic isolated h. (endocrine-abstracts.org)
  • Testosterone is determined in men when reduced testosterone production is suspected, e.g. in hypogonadism, estrogen therapy, chromosome aberrations (as in the Klinefelter's syndrome) and liver cirrhosis. (cdc.gov)
  • CHICAGO, Illinois - Anti-inflammatory therapy may be a novel approach to treating hypogonadism and possibly reducing cardiovascular risk in men with metabolic syndrome , new research suggests. (medscape.com)
  • Replacing the lost testosterone is likely to remain first-line hypogonadism treatment for the time being, she said, but "there has been an increase in the anti-inflammatory literature in other disorders. (medscape.com)
  • Breast disorders occurring in pediatric patients range from congenital conditions to neonatal infections and from benign disorders such as fibroadenoma in females and gynecomastia in males to breast carcinoma and rhabdomyosarcoma . (medscape.com)
  • It is a rare case of congenital testicular agenesis with bipolar disorder which was resistant to therapy. (scirp.org)
  • Congenital agonadism is also known as congenital anorchia, male gonadal agenesis, testicular agenesis, vanishing testes syndrome, regressed testes syndrome [1]. (scirp.org)
  • We also provide care coordination for children with congenital birth defects and metabolic disorders. (mainehealth.org)
  • Disorders of Sex Development (DSD) are congenital conditions in which chromosomal, gonadal, or anatomical sex is atypical. (fapesp.br)
  • Birth defects, i.e. congenital disorders present at birth, occur in 2%-4% of all neonates [1]. (who.int)
  • XXY aneuploidy, the most common human sex chromosome disorder, has a prevalence of 1 in 500 males. (medscape.com)
  • A form of primary testicular failure occurs in males with Klinefelter Syndrome, with elevated gonadotropin levels due to lack of feedback inhibition by the pituitary gland. (medscape.com)
  • Recessive X-linked disorders are rarely seen in females and usually only affect males. (wikipedia.org)
  • A small percentage of males with Klinefelter syndrome are diagnosed before birth. (mayoclinic.org)
  • Klinefelter males, on the other hand, have at least one spare X - so the make-up of Klinefelter cells will be XXY. (sharedjourney.com)
  • Klinefelter males are born with the condition. (sharedjourney.com)
  • Although some Klinefelter males will exhibit symptoms of the condition from boyhood, many don't realize that they have the condition until they try as adults to become fathers. (sharedjourney.com)
  • Unfortunately, the infertility aspect of Klinefelter's is rarely treatable, although some Klinefelter males have become Dads thanks to an assisted reproduction technique called ICSI . (sharedjourney.com)
  • Breast disorders include Breast enlargement Breast cancer Breast enlargement in males is called either gynecomastia or pseudogynecomastia. (msdmanuals.com)
  • Males with the syndrome are often infertile, but sometimes the testes develop enough to produce sperm. (msdmanuals.com)
  • Some Klinefelter males experience symptoms of their condition as boys or teenagers, and they therefore benefit from diagnosis and treatment at an earlier stage. (wdxcyber.com)
  • It's common, for example, for Klinefelter males to have less body or facial hair, and less muscle mass, than "normal" males. (wdxcyber.com)
  • On the other hand, a great many Klinefelter males look completely ordinary, and enjoy a healthy and normal sex life until the time comes to have children. (wdxcyber.com)
  • Moreover, there is a very, very small number of Klinefelter males who have managed to become biological fathers. (wdxcyber.com)
  • Klinefelter syndrome (KS) refers to a genetic condition where the males have an extra chromosome making the total number of chromosomes 47 instead of 46 in healthy males. (artfertilityclinics.com)
  • For people with disorders like trisomy X, where the genotype has three X chromosomes, X-inactivation will inactivate all X chromosomes until there is only one X chromosome active. (wikipedia.org)
  • The importance of maintaining a proper balance is made evident by diseases caused by abnormal numbers of sex chromosomes, including Klinefelter syndrome and Turner syndrome in humans, and Valenzuela said these processes have evolutionary and health implications in many other organisms as well. (newswise.com)
  • Also called karyotype analysis, this test is used to confirm a diagnosis of Klinefelter syndrome. (mayoclinic.org)
  • When traditional tests were inconclusive, Jill turned to the Roberts Individualized Medical Genetics Center for a diagnosis of Kallmann syndrome. (chop.edu)
  • The Diagnostic and Statistical Manual of Mental Disorders (DSM-5) includes gender dysphoria as a diagnosis. (memphis.edu)
  • A combination of tests are used to diagnosis Klinefelter syndrome. (wdxcyber.com)
  • A man who receives a positive diagnosis of Klinefelter syndrome will have to accept that it's very unlikely he'll ever biologically father a child. (wdxcyber.com)
  • Also, the presentation of a psychiatric disorder in people with intellectual disability is often atypical, further confounding diagnosis. (herts.ac.uk)
  • We aimed to investigate change over time in incidence, prevalence and age at diagnosis among Turner syndrome (TS), Klinefelter syndrome (KS), Triple X syndrome (Triple X) and Double Y syndrome (Double Y). (biomedcentral.com)
  • Preimplantation genetic testing for a Monogenic or Single Gene Disorder (PGT‐M) is formerly known as Preimplantation genetic diagnosis (PGD). (artfertilityclinics.com)
  • This data will allow for population estimates of the selected steroid hormones and related binding protein that can be used to assist in disease diagnosis, treatment, and prevention of diseases such as, Polycystic Ovary Syndrome (PCOS), androgen deficiency, cancer, and hormone imbalances in children. (cdc.gov)
  • Treatments are available for some symptoms of Klinefelter syndrome - for example, testosterone therapy can help men who have some feminine features. (sharedjourney.com)
  • However, this presents a paradox, as symptoms of a psychiatric disorder may be overshadowed by the behaviour and intellectual disability of affected individuals. (herts.ac.uk)
  • Because not every male with an XXY pattern has all the symptoms of Klinefelter syndrome, it is common to use the term XXY male to describe these men, or XXY condition to describe the symptoms. (doctors.am)
  • If you or your son is diagnosed with Klinefelter syndrome, your health care team may include a doctor who specializes in diagnosing and treating disorders involving the body's glands and hormones (endocrinologist), a speech therapist, a pediatrician, a physical therapist, a genetic counselor, a reproductive medicine or infertility specialist, and a counselor or psychologist. (mayoclinic.org)
  • An almost certain consequence of having the syndrome is permanent infertility. (sharedjourney.com)
  • See our section on Klinefelter treatment, under Male Infertility: Drugs and Treatment, for more information. (sharedjourney.com)
  • Even if the problem is male-factor infertility, the chances of a man having Klinefelter syndrome are relatively low. (wdxcyber.com)
  • It is the most common hormonal disorder among women of reproductive age, which can occur as young as 11 years old, and is the leading cause of infertility. (cdc.gov)
  • The patient denies any family history of testicular agenesis syndrome and has a brother with normal testes and male development. (scirp.org)
  • Adult Klinefelter men may have smaller-than-average testes . (sharedjourney.com)
  • Disorders of the male sex organs (testes) can result in decreased testosterone production and relatively high estrogen levels, leading to gynecomastia. (medicinenet.com)
  • In 1942, Klinefelter et al published a report on 9 men who had enlarged breasts, sparse facial and body hair, small testes, and an inability to produce sperm. (medscape.com)
  • If one abnormal gene produces disease, this is called a dominant hereditary disorder. (health.am)
  • In this case, the genetic disorder is known as a hereditary disease. (writework.com)
  • Polycystic Ovary Syndrome (PCOS), the most common endocrine disorder of women during the reproductive period, is often implicated with NAFLD.Aim: To investigate the potential involvement of PCOS on the aggravation of NAFLD by. (endocrine-abstracts.org)
  • Introduction: Polycystic ovary syndrome (PCOS) affects 5-10% of reproductive aged women. (endocrine-abstracts.org)
  • Decreased SHBG concentrations are often seen with hypothyroidism, polycystic ovarian syndrome (PCOS), obesity, hirsutism, elevated androgen levels, alopecia, acromegaly and some polymorphisms on the SHBG gene. (cdc.gov)
  • It may allow us to identify new kinds of language disorders and will clarify the relationships between language impairment and other developmental disorders. (brookes.ac.uk)
  • Studies show that developmental language disorders run in families - a brother or sister of someone who has already been diagnosed will have an increased risk of developing the disorder themselves. (brookes.ac.uk)
  • developmental language disorders are genetic and is therefore caused (at least in part) by the genes passed on from parents to children. (brookes.ac.uk)
  • Thus, unevenness in the number of copies of genes that work together can lead to developmental, physiological or other disorders. (newswise.com)
  • To this end, preventive screening for genetic disorders, including developmental disabilities, is an essential component in uncovering possible disorders early, thus enabling timely medical intervention. (who.int)
  • Taurodontism is the consequence of a developmental disorder in which the invagination of Hertwig's epithelial root sheath doesn't occur at a proper level. (bvsalud.org)
  • Taurodontism is related to a developmental disorder in which the horizontal invagination of Hertwig's epithelial root sheath doesn't occur at a proper level. (bvsalud.org)
  • Its incidence affects 11.3% of the population 6 and, although it is an isolated anomaly, it can be related to syndromes and other developmental anomalies such as imperfect amelogenesis, ectodermic dysplasia, Down syndrome, Klinefelter syndrome, thricodentalosseous syndrome, Mohr syndrome, Wolf-Hirschhorn syndrome and Lowe syndrome 6 . (bvsalud.org)
  • Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. (mayoclinic.org)
  • A genetic disorder that causes abnormal development of many parts and systems of the body. (hopkinsmedicine.org)
  • In the case of a dominant disorder, if one abnormal gene is inherited from mom or dad, the child will likely show the disease. (health.am)
  • Huntington's chorea, or Huntington's disease, named after Ohio physician George Huntington in 1872, is an inherited disorder characterized by abnormal body movements called chorea, and loss of memory. (writework.com)
  • Chorea is an abnormal voluntary movement disorder, one of a group of neurological disorders called dyskinesias, which are caused by overactivity of the neurotransmitter dopamine in the areas of the brain that control movement. (writework.com)
  • A genetic disorder, or genetic disease, is a disease caused by abnormal expression of one or more genes in a person causing a distinct phenotype. (writework.com)
  • Klinefelter syndrome: expanding the phenotype and identifying new research directions. (uchicago.edu)
  • Ovotesticular disorder of sexual development, which was previously termed "intersex," describes disorders in which there is a discrepancy between a person's phenotype, genetic material, and gonads. (medscape.com)
  • Faculty and fellows attend on all hospitalized children with diabetes and other endocrine and metabolic disorders and actively collaborate with members of the Pediatric Intensive Care Unit (PICU), Newborn Intensive Care Unit (NICU), Pediatric Cardiology Intensive Care Unit (PCICU), and Bone Marrow Transplant Unit. (duke.edu)
  • The study included 70 obese men aged 18 to 75 years with total morning testosterone levels less than 12 nmol/L and at least one manifestation of the metabolic syndrome, including prediabetes, diabetes, hypertension , and/or dyslipidemia. (medscape.com)
  • Many medications, disorders, or diseases can have consequences on fertility. (healthnews.com)
  • Disorders where genetics play an important role, so-called genetic diseases, can be classified as single gene defects, chromosomal disorders, or multifactorial. (health.am)
  • They are also more likely than other men to have certain health problems, such as autoimmune disorders, breast cancer, vein diseases, osteoporosis, and tooth decay. (doctors.am)
  • Introduction: Non-alcoholic fatty liver disease (NAFLD) has become the leading cause of chronic liver disorders in Western countries, encompassing a spectrum of diseases ranging from simple steatosis to liver fibrosis and cirrhosis. (endocrine-abstracts.org)
  • In 1942, Klinefelter et al published a report describing nine men with a constellation of features: testicular dysgenesis, microorchidism, eunuchoidism, gynecomastia, elevated urinary gonadotropins, and azoospermia. (medscape.com)
  • The syndrome is named after Harry Klinefelter, the endocrinologist who first identified it in 1942. (sharedjourney.com)
  • Adolescent male with Klinefelter syndrome who has female-type distribution of pubic hair and testicular dysgenesis. (medscape.com)
  • A 36-year-old man with a past medical history of bipolar disorder, previous suicide attempts, and testicular agenesis was admitted to a psychiatric ward after a suicide attempt by jumping into traffic. (scirp.org)
  • Patients with ovotesticular disorder of sexual development are individuals who have both ovarian and testicular tissue. (medscape.com)
  • This permits direct involvement in the management of children with diabetic ketoacidosis, neuroendocrine emergencies, neonatal hypoglycemia, post transplant endocrinopathy, and other critical electrolyte disturbances, and neonatal thyroid and adrenal disorders. (duke.edu)
  • 2001). In spite of the prevalence of autistic-like behaviours in many syndromes, autism is typically associated with a few conditions only, notably tuberous sclerosis. (herts.ac.uk)
  • This study aimed to assess the prevalence of chromosomal abnormalities among patients suspected of genetic disorders in Ouagadougou, Burkina Faso. (bvsalud.org)
  • Klinefelter syndrome may be diagnosed prenatally from fetal cytogenetic analyses performed on chorionic villi or amniocytes. (medscape.com)
  • The syndrome might be identified in pregnancy during a procedure to examine fetal cells drawn from the amniotic fluid (amniocentesis) or placenta for another reason - such as being older than age 35 or having a family history of genetic conditions. (mayoclinic.org)
  • For example, amniocentesis is required to assess fetal lung maturity when fetal respiratory distress syndrome is suspected. (wikisummaries.org)
  • This website was enabled by the generous support of The American Association for Klinefelter Syndrome Information and Support, in memory of Wolfram Nolten, MD, an endocrinologist whose assistance and care were a continual inspiration to the Klinefelter community. (genetic.org)
  • Our care team has in-depth training and experience in these conditions, and includes board-certified physicians with extensive expertise in metabolic disorders, a dietitian, genetic counselors, a licensed clinical social worker and a parent peer. (mainehealth.org)
  • Leydig cell metabolic disorder act as a new mechanism affecting for focal spermatogenesis in Klinefelter syndrome patients: a real world cross-sectional study base on the age. (nih.gov)
  • Our faculty and fellows provide consultative care to patients with the entire range of hormonal and metabolic endocrine disorders on the inpatient ward and in daily outpatient clinics at Duke Children's Hospital & Health Center, Lenox Baker Children's Hospital, and Duke Children's Specialty Services of Raleigh. (duke.edu)
  • Men with metabolic syndrome often have low testosterone . (medscape.com)
  • Metabolic syndrome is a state of chronic, low-grade inflammation. (medscape.com)
  • In a number of syndromes, such as Cornelia de Lange, milder phenotypic expression is associated with less severe intellectual disability. (herts.ac.uk)
  • for example, females with fragile-X syndrome have milder phenotypic expression and less severe intellectual disability. (herts.ac.uk)
  • If Klinefelter syndrome is not diagnosed prenatally, a patient with 47,XXY karyotype may demonstrate various subtle, age-related clinical signs that would prompt diagnostic testing. (medscape.com)
  • However, some studies have shown testosterone treatment stimulates penile growth and talk about the important role of testosterone trial in the treatment of micropenis which may present during different clinical syndromes and conditions [6]. (scirp.org)
  • Our mission is to provide excellence in clinical care and patient safety, to facilitate growth and advancement in the areas of training and education, and to pursue patient-oriented research in pediatric endocrine disorders. (duke.edu)
  • Our educational goals are to train the future physician-scientists and academic leaders in pediatric endocrine disorders, fund young researchers working in basic science and patient-oriented research, and train physicians in family-based, patient-centered clinical services. (duke.edu)
  • A genetic disorder of the blood vessels in which there is a tendency to form blood vessels that lack capillaries between an artery and vein. (hopkinsmedicine.org)
  • If secondary osteoporosis is present, treatment for the primary disorder should be provided. (medscape.com)
  • Although the underlying origin of these behaviours can sometimes be linked to a biological mechanism, such as a deficiency in the enzyme hypoxanthineguanine phosphoribosyl transferase (HPRT) in Lesch-Nyhan syndrome, in most conditions the pathway from gene to behaviour is less clear. (herts.ac.uk)
  • Testosterone deficiency syndrome. (clevelandclinic.org)
  • Most men with Klinefelter syndrome are typically unable to father children because few or no sperm are produced in the testicles. (mayoclinic.org)
  • In this syndrome, the testicles do not develop normally, producing less male hormones and more female hormones. (lbbc.org)
  • Any medication, tumor, disease, or disorder that impacts the glands that secrete sex hormones can alter male fertility. (healthnews.com)
  • Y-linked inheritance occurs when a gene, trait, or disorder is transferred through the Y chromosome. (wikipedia.org)
  • Klinefelter syndrome is the most common sex chromosome disorder and occurs in about 1 in every 500 live male births. (msdmanuals.com)
  • Head-banging is often associated with dental pain or upper respiratory tract infections causing sinusitis or otitis (Clarke, 2002) or gastrointestinal reflux, as commonly occurs in Cornelia de Lange syndrome. (herts.ac.uk)