Harry Klinefelter

  • Klinefelter's Syndrome (KS), was first described by Dr. Harry Klinefelter and his colleagues in 1942, while studying nine men with fertility problems and enlarged breasts. (medindia.net)
  • It was first described in 1942 by Dr. Harry Klinefelter. (pediatriceducation.org)

Klinefelter's Syndrome

  • Klinefelter's Syndrome (KS) is a sex chromosomal disorder like Turner s syndrome. (medindia.net)
  • Klinefelter's Syndrome, which affects 1 in 500 to 1 in 1000 live births, is a sex chromosomal genetic disorder where the affected males have an extra X chromosome. (medindia.net)
  • Although most patients with Klinefelter's Syndrome have only one extra X chromosome in their cells, approximately 10% of the patients have different forms of the disorder. (medindia.net)
  • What are the Causes of Klinefelter's Syndrome? (medindia.net)
  • What are the Signs and Symptoms Klinefelter's Syndrome? (medindia.net)
  • Objective To investigate the criminal pattern in men between 15 and 70 years of age diagnosed with 47,XXY (Klinefelter's syndrome (KS)) or 47,XYY compared to the general population. (bmj.com)

Genetic

  • It is known as the forgotten syndrome, as it is a common yet under-diagnosed genetic condition, despite being described almost 70 years ago. (medindia.net)
  • Genetic variation in Klinefelter individuals show three to four extra X chromosomes, extra Y-chromosomes or mosaics . (medindia.net)
  • Klinefelter syndrome (KS) is a common genetic abnormaly with a prevalence of 1 in ~650 male births. (pediatriceducation.org)
  • One of the most common genetic conditions that affect males is klinefelter syndrome, which is usually the result of an extra copy of the X chromosome in each cell. (epharmapedia.com)

Disorders

  • They also have higher rates of diabetes mellitus, obesity, metabolic syndrome, osteopenia/osteoporosis and autoimmune disorders especially systemic lupus erythematosus. (pediatriceducation.org)
  • Having a family history of Klinefelter syndrome or having an older mother at birth won't make a person more susceptible to this disorder unlike other chromosomal disorders, such as Down syndrome. (epharmapedia.com)

testosterone

  • The onset of adolescence in Klinefelter s Syndrome is marked by the lack of testosterone, poor growth of secondary sexual characters, gynecomastia and sterility. (medindia.net)
  • Boys who are born with this syndrome have low levels of the sex hormone testosterone because this condition could affect testicular growth, which could result in reduced muscle growth, gynecomastia (enlarged breast tissue) and reduced body and facial hair. (epharmapedia.com)
  • Sometimes, weaker bones, lower energy levels and gynecomastia may be caused due to the low testosterone levels caused by klinefelter syndrome. (epharmapedia.com)
  • Starting testosterone therapy at the time of the usual onset of puberty could be helpful in treating or preventing a number of problems caused by Klinefelter syndrome. (epharmapedia.com)

adolescence

  • In some cases, this syndrome could cause learning and social difficulties during childhood and adolescence. (epharmapedia.com)

occurs

  • Klinefelter s Syndrome occurs as the result of an error during the formation of an egg or a sperm that results in a person having a XXY combination or 47 chromosomes instead of the normal 46. (medindia.net)
  • When an extra sex chromosome is inherited from one of the parents during the formation of the embryo, Klinefelter syndrome occurs, which happens entirely by chance because it is a random occurrence. (epharmapedia.com)

Symptoms

  • The signs and symptoms of this syndrome vary. (epharmapedia.com)
  • Most of the time, this condition goes undiagnosed until adulthood, and many people with this syndrome have only a few noticeable symptoms. (epharmapedia.com)

patients

  • In Klinefelter Syndrome Patients, What are the Common Behavioral Problems? (pediatriceducation.org)
  • Patients with the testicular dysgenesis syndrome, that comprises a variable spectrum of clinical manifestations, such as infertility, cryptorchidism, hypospadias, impaired spermatogenesis and testicular germ cell neoplasms, often develop alterations in the Leydig cell compartment. (clinicaltrials.gov)
  • Patients with testicular dysgenesis syndrome in general exhibit an elevation of Follicle-Stimulating Hormone (FSH), but in these patients, very frequently, even Luteinizing Hormone (LH) is above the reference range. (clinicaltrials.gov)

Pancreatic

  • Pancreatic tumors, hyperparathyroidism and pituitary adenomas are characteristic of what syndrome? (sporcle.com)

males

  • These individuals are also referred to as 'males with XXY syndrome' , or as 'XXY males' . (medindia.net)

metabolic

  • Metabolic syndrome: Female waistline must be greater than how many inches? (sporcle.com)

Diagnosis

infertility

  • Although infertility could be caused by something other than this syndrome, however, men are not diagnosed with this condition until they realize that they are not able to father a child. (epharmapedia.com)

male

  • A 17-year-old male with known Klinefelter syndrome (KS) came to clinic for his health supervision visit. (pediatriceducation.org)

normal

  • In a small proportion of the Klinefelter individuals, a few of the body cells may be normal while the others may have an additional X chromosome. (medindia.net)
  • Although men with klinefelter syndrome may be taller than average, otherwise they are normal in appearance. (epharmapedia.com)

common

  • The patient had earlier noted that he wanted to go to college after high school and the resident said that it was very common for people with Klinefelter syndrome to have some academic problems and maybe the patient would benefit from formal testing so that he could get the appropriate help for school and college. (pediatriceducation.org)

Signs

  • This syndrome may not show any noticeable signs and syndromes at first. (epharmapedia.com)

children

  • Women who are 35 and older have the greatest risk of having children with Klinefelter s syndrome. (medindia.net)
  • Although new procedures are making it possible for men with this syndrome to father children, however, most men with Klinedelter syndrome are infertile. (epharmapedia.com)
  • Although a person will still need treatment for the condition, however, he probably won't have children in case he has Klinefelter syndrome. (epharmapedia.com)

problems

  • Klinefelter syndrome has been linked to learning and language problems in some cases. (epharmapedia.com)

conditions

  • A number of conditions that need treatment including Klinefelter syndrome could have delays in growth and development as their initial sign or symptom. (epharmapedia.com)

usually

  • Usually, the effects of this syndrome vary from one person to another. (epharmapedia.com)
  • This syndrome is usually not diagnosed until adulthood. (epharmapedia.com)

additional

  • Klinefelter s Syndrome is caused by the presence of an additional X chromosome. (medindia.net)
  • 47,XYY syndrome and the approximately 20 additional variations involving additional X and/or Y chromosomes and mosaicism. (healthfinder.gov)