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Encyclopedia > Klinefelter's syndrome
Klinefelter's syndrome
Classification & external resources
ICD-10 Q98.0-Q98.4
ICD-9 758.7
DiseasesDB 7189
eMedicine ped/1252 
MeSH D007713
Not to be confused with XXX syndrome. For the Lucía Puenzo film, see XXY (film).

Klinefelter's syndrome, 47, XXY or XXY syndrome is a condition caused by a chromosome aneuploidy. Affected males have an extra X sex chromosome. The principal effect is small testes development and reduced fertility. A variety of other physical and behavioral differences and problems are common, though severity varies and many boys and men with the condition have few detectable symptoms. It is the second most common extra chromosome condition, and is named after Dr. Harry Klinefelter, an endocrinologist at Massachusetts General Hospital, Boston, Massachusetts, who first described it in 1942.[1] The condition exists in roughly 1 out of every 500 to 1,000 males.[2] The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). ... // Q00-Q99 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q07) Congenital malformations of the nervous system (Q00) Anencephaly and similar malformations (Q01) Encephalocele (Q02) Microcephaly (Q03) Congenital hydrocephalus (Q04) Other congenital malformations of brain (Q05) Spina bifida (Q06) Other congenital malformations of spinal cord (Q07) Other congenital malformations of nervous... // Q00-Q99 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q07) Congenital malformations of the nervous system (Q00) Anencephaly and similar malformations (Q01) Encephalocele (Q02) Microcephaly (Q03) Congenital hydrocephalus (Q04) Other congenital malformations of brain (Q05) Spina bifida (Q06) Other congenital malformations of spinal cord (Q07) Other congenital malformations of nervous... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... Triple X syndrome is a chromosomal aneuploid abnormality characterized by the presence of an extra X chromosome in each cell of a human female. ... XXY is a 2007 Argentine film written and directed by Lucía Puenzo. ... Figure 1: A representation of a condensed eukaryotic chromosome, as seen during cell division. ... Aneuploidy is a change in the number of chromosomes that can lead to a chromosomal disorder. ... The XY sex-determination system is the sex-determination system found in humans, most other mammals, some insects (Drosophila) and some plants (Ginkgo). ... Fertility is the natural capability of giving life. ... Endocrinology is a branch of medicine dealing with disorders of the endocrine system and its specific secretions called hormones. ... Massachusetts General Hospital (often abbreviated to Mass General or just MGH) is a teaching hospital of Harvard Medical School and biomedical research facility in Boston, Massachusetts. ... Boston redirects here. ... Year 1942 (MCMXLII) was a common year starting on Thursday (the link will display the full 1942 calendar) of the Gregorian calendar. ...

Contents

Signs and symptoms

Affected males are almost always effectively sterile, although advanced reproductive assistance is sometimes possible[3] and some degree of language learning impairment may be present.[4] In adults, possible characteristics vary widely and include little to no signs of affectedness, a lanky, youthful build and facial appearance, or a rounded body type with some degree of gynecomastia (increased breast tissue).[5] Gynecomastia to some extent is present in about a third of individuals affected, a slightly higher percentage than in the normal XY population, but only about 10% of XXY males' gynecomastia is noticeable enough to require surgery.[6] Infertility primarily refers to the biological inability of a man or a woman to contribute to conception. ... Gynecomastia, or gynaecomastia, pronounced is the development of abnormally large mammary glands in males resulting in breast enlargement, which can sometimes cause secretion of milk. ...


The term "hypogonadism" in XXY symptoms is often misinterpreted to mean "small testicles" or "small penis". In fact, it means decreased testicular hormone/endocrine function. Because of this hypogonadism, patients will often have a low serum testosterone level but high serum follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels.[7] Despite this misunderstanding of the term, however, it is true that XXY men often also have "microorchidism" (i.e. small testicles).[7] Hypogonadism is a medical term for a defect of the reproductive system which results in lack of function of the gonads (ovaries or testes). ... Testosterone is a steroid hormone from the androgen group. ... Follicle stimulating hormone Follicle stimulating hormone (FSH) is a hormone synthesised and secreted by gonadotropes in the anterior pituitary gland. ... Luteinizing hormone (LH) is a hormone synthesized and secreted by gonadotropes in the anterior lobe of the pituitary gland. ...


The more severe end of the spectrum of symptom expression is also associated with an increased risk of germ cell tumors[8], breast cancer,[9] and osteoporosis,[2] risks shared to varying degrees[10] with females. Additionally, extant medical literature shows some individual case studies of Klinefelter's syndrome coexisting with other disorders, such as pulmonary disease, varicose veins, diabetes mellitus, and rheumatoid arthritis, but the etiologies (understanding of any potential causation relationship) between Klinefelter's and these other conditions are not well characterized or understood. In most modern usages of the word spectrum, there is a unifying theme of between extremes at either end. ... Germ cell tumors are neoplasms derived from germ cells. ... Breast cancer is cancer of breast tissue. ... Osteoporosis is a disease of bone in which the bone mineral density (BMD) is reduced, bone microarchitecture is disrupted, and the amount and variety of non-collagenous proteins in bone is altered. ... In medicine, pulmonology (aka pneumology) is the specialty that deals with diseases of the lungs and the respiratory tract. ... Varicose veins are veins on the leg which are large, twisted, and ropelike, and can cause pain, swelling, or itching. ... For the disease characterized by excretion of large amounts of very dilute urine, see diabetes insipidus. ... Rheumatoid arthritis (RA) is traditionally considered a chronic, inflammatory autoimmune disorder that causes the immune system to attack the joints. ...


In contrast to these potentially increased risks, it is currently thought that rare X-linked recessive conditions occur even less frequently in XXY males than in normal XY males, since these conditions are transmitted by genes on the X chromosome, and people with two X chromosomes are typically only carriers rather than affected by these X-linked recessive conditions. Sex-linked genes are those carried on the mammalian X chromosome but not the Y chromosome. ...


There are many variances within the XXY population, just as in the most common 46,XY population. While it is possible to characterise 47,XXY males with certain body types, that in itself should not be the method of identification as to whether someone has 47,XXY or not. The only reliable method of identification is karyotype testing. Karyogram of human female A karyotype is the complete set of all chromosomes of a cell of any living organism. ... Karyogram of human male using Giemsa staining. ...


Cause

The extra X chromosome is retained because of a nondisjunction event during meiosis (sex cell division). The XXY chromosome arrangement is one of the most common genetic variations from the XY karyotype, occurring in about 1 in 500 to 1,000 live male births.[2] Because of the extra chromosome, individuals with the condition are usually referred to as "XXY Males", or "47,XXY Males".[11] In mammals with more than one X chromosome, the genes on all but one X chromosome are not expressed; this is known as X inactivation. This happens in XXY males as well as normal XX females.[12] A few genes located in the pseudoautosomal regions, however, have corresponding genes on the Y chromosome and are capable of being expressed.[13] These triploid genes in XXY males may be responsible for symptoms associated with Klinefelter's syndrome.[citation needed] For the figure of speech, see meiosis (figure of speech). ... For the figure of speech, see meiosis (figure of speech). ... Karyogram of human male using Giemsa staining. ... Subclasses & Infraclasses Subclass †Allotheria* Subclass Prototheria Subclass Theria Infraclass †Trituberculata Infraclass Metatheria Infraclass Eutheria Mammals (class Mammalia) are warm-blooded, vertebrate animals characterized by the presence of sweat glands, including those that produce milk, and by the presence of: hair, three middle ear bones used in hearing, and a neocortex... For other uses, see Gene (disambiguation). ... In those species in which sex is determined by the presence of the Y or W chromosome rather than the diploidy of the X or Z, a Barr body is the inactive X chromosome in a female cell, or the inactive Z in a male. ... The pseudoautosomal regions, PAR1 and PAR2 are homologous sequences of nucleotides on the X and Y chromosomes that allow the two chromosomes to pair and segregate during meiosis. ... Polyploid (in Greek: πολλαπλόν - multiple) cells or organisms contain more than one copy (ploidy) of their chromosomes. ...


The first published report of a man with a 47,XXY karyotype was by Patricia A. Jacobs and Dr. J.A. Strong at Western General Hospital in Edinburgh, Scotland in 1959.[14] This karyotype was found in a 24-year-old man who had signs of Klinefelter's syndrome. Dr. Jacobs described her discovery of this first reported human or mammalian chromosome aneuploidy in her 1981 William Allan Memorial Award address.[15] The Western General is one of the main teaching hospitals affiliated to the University of Edinburgh Medical School. ... Edinburgh viewed from Arthurs Seat. ... Aneuploidy is a change in the number of chromosomes that can lead to a chromosomal disorder. ...


Treatment

The genetic variation is irreversible, but its symptoms can be altered or treated in a number of ways, including testosterone treatment and other therapies.[citation needed]


Inadequately treated hypogonadism in Klinefelter syndrome increases recognized psychosocial morbidity.[16] At least one study indicates that planned and timed support should be provided for young men with Klinefelter syndrome, to ameliorate current poor psychosocial outcomes.[16] Hypogonadism is a medical term for a defect of the reproductive system which results in lack of function of the gonads (ovaries or testes). ... Psychosocial refers to ones psychological development in the context of a social environment. ...


Variations

The 48, XXYY (male) syndrome occurs 1 in 17,000 births and has traditionally been considered to be a variation of Klinefelter's syndrome. XXYY is no longer generally considered a variation of KS, although it has not yet been assigned an ICD-9 code.


Males with Klinefelter syndrome may have a mosaic 47,XXY/46,XY constitutional karyotype and varying degrees of spermatogenic failure. Mosaicism 47,XXY/46,XX with clinical features suggestive of Klinefelter syndrome is very rare. Thus far, only about 10 cases have been described in literature.[17] In medicine (genetics), a mosaic or mosaicism denotes the presence of two populations of cells with different genotypes in one patient, where usually one of the two is affected by a genetic disorder. ... Karyogram of human male using Giemsa staining. ...


Complications

Patients with Klinefelter syndrome have a 50 times greater risk of germ cell tumors (GSTs).[18] In these patients, GSTs usually contain nonseminomatous elements, present at an earlier age, and seldom are testicular in location. Germ cell tumors are neoplasms derived from germ cells. ...


References

  1. ^ Klinefelter, HF Jr; Reifenstein, EC Jr & Albright (1942), "Syndrome characterized by gynecomastia, aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone.", J Clin Endocrinol Metab 2: 615-624, PMID: too early to be indexed. Klinefelter, HF (1986), "Klinefelter's syndrome: historical background and development.", South Med J 79 (9): 1089-1093, PMID: 3529433 talks about the history of the development of the literature.
  2. ^ a b c Klinefelter Syndrome (HTML). Health Information. National Institute of Health and Human Development (2007-02-19). Retrieved on 2007-03-24. and Klinefelter syndrome (HTML). Genetics Home Reference. National Library of Medicine (2006). Retrieved on 2007-03-24. both provide statistical estimates.
  3. ^ Denschlag, Dominik, MD; Clemens, Tempfer, MD & Kunze, Myriam, MD et al. (October 2004), "Assisted reproductive techniques in patients with Klinefelter syndrome: A critical review", Fertility and Sterility 82 (4): 775-779, DOI 10.1016/j.fertnstert.2003.09.085 describes assisted reproduction techniques for Klinefelter patients.
  4. ^ Graham, JM Jr; Bashir, AS & Stark, RE et al. (June 1988), "Oral and written language abilities of XXY boys: implications for anticipatory guidance.", Pediatrics 81 (6): 795-806, PMID: 3368277
  5. ^ Abstract of Klinefelter, HF (1986), "Klinefelter's syndrome: historical background and development.", South Med J 79 (9): 1089-1093, PMID: 3529433 provides information on microorchidism (small testes), hypogonadism (infertility/sterility and androgen hormone function) and gynecomastia. Bock, Robert (1993 Aug). Understanding Klinefelter Syndrome: A Guide for XXY Males and Their Families (HTML). NIH Pub. No. 93-3202. Office of Research Reporting, NICHD. Retrieved on 2007-03-28. offers substantive information about body type and appearance until a more rigorous source is found/supplied.
  6. ^ Bock, Robert (1993 Aug). Understanding Klinefelter Syndrome: A Guide for XXY Males and Their Families, Adolescence section (HTML). NIH Pub. No. 93-3202. Office of Research Reporting, NICHD. Retrieved on 2007-03-29. describes statistical occurrence of gynecomastia and surgical treatment.
  7. ^ a b Leask, Kathryn (October 2005). Klinefelter syndrome (HTML). National Library for Health, Specialist Libraries, Clinical Genetics. National Library for Health. Retrieved on 2007-04-07.
  8. ^ Mediastinal germ cell tumor in a child with precocious puberty and Klinefelter syndrome. Gregory G. Bebb, Frederic W. Grannis, Jr, Isaac B. Paz, Marilyn L. Slovak, Robert Chilcote. Ann Thorac Surg 1998;66:547-548. [http://ats.ctsnetjournals.org/cgi/content/abstract/66/2/547 Online}
  9. ^ Hultborn, R; Hanson, C & Kopf, I et al. (1997 Nov-Dec), "Prevalence of Klinefelter's syndrome in male breast cancer patients.", Anticancer Res. 17 (6D): 4293-4297, PMID: 9494523
  10. ^ For instance, while Hultborn, R; Hanson, C & Kopf, I et al. (1997 Nov-Dec), "Prevalence of Klinefelter's syndrome in male breast cancer patients.", Anticancer Res. 17 (6D): 4293-4297, PMID: 9494523 shows a 50-fold increased risk of developing breast cancer versus normal males, study of the SEER Cancer Statistics Review (CSR) databases available at the National Cancer Institute reveal that female relative risk of breast cancer incidence compared to normal males is around a 100 to 200-fold increase, which indicates XXY males may not be as much at risk statistically as normal females are.
  11. ^ Bock, Robert (1993 Aug). Understanding Klinefelter Syndrome: A Guide for XXY Males and Their Families (HTML). NIH Pub. No. 93-3202. Office of Research Reporting, NICHD. Retrieved on 2007-04-07.
  12. ^ Chow J, Yen Z, Ziesche S, Brown C (2005). "Silencing of the mammalian X chromosome". Annu Rev Genomics Hum Genet 6: 69-92. PMID 16124854
  13. ^ Blaschke RJ, Rappold G (2006). The pseudoautosomal regions, SHOX and disease. Curr Opin Genet Dev. Jun; 16:233-9. PMID 16650979
  14. ^ Jacobs PA, Strong JA (January 31, 1959). "A case of human intersexuality having a possible XXY sex-determining mechanism". Nature 183 (4657): 302-3. PMID 13632697. 
  15. ^ Jacobs PA (September 1982). "The William Allan Memorial Award address: human population cytogenetics: the first twenty-five years". Am J Hum Genet 34 (5): 689-98. PMID 6751075. 
  16. ^ a b Simm PJ, Zacharin MR. "The psychosocial impact of Klinefelter syndrome--a 10 year review". J Pediatr Endocrinol Metab 2006 Apr;19(4):499-505. PMID 16759035
  17. ^ Velissariou V, Christopoulou S, Karadimas C, Pihos I, Kanaka-Gantenbein C, Kapranos N, Kallipolitis G, Hatzaki A. "Rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case report". Eur J Med Genet 2006 July - August;49(4):331-337. PMID 16829354
  18. ^ Mediastinal germ cell tumor in a child with precocious puberty and Klinefelter syndrome. Gregory G. Bebb, Frederic W. Grannis, Jr, Isaac B. Paz, Marilyn L. Slovak, Robert Chilcote. Ann Thorac Surg 1998;66:547-548. [http://ats.ctsnetjournals.org/cgi/content/abstract/66/2/547 Online}

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See also

48 xxyy syndrome is a sex chromosome anomaly. ... Intersexuality is the state of a person whose sex chromosomes, genitalia and/or secondary sex characteristics are determined to be neither exclusively male nor female. ... In medicine (genetics), a mosaic or mosaicism denotes the presence of two populations of cells with different genotypes in one patient, where usually one of the two is affected by a genetic disorder. ... Triple X syndrome is a form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female. ... Not to be confused with XXY syndrome. ...

External links


  Results from FactBites:
 
Klinefelters Syndrome resource page - klinefelters syndrome symptoms (648 words)
Klinefelter's syndrome is a condition caused by a chromosome nondisjunction in males; klinefelters syndrome treatment affected individuals have a pair of X sex chromosomes instead of just one.
This klinefelters syndrome symptoms and complicationns happens in XXY which body system is affected klinefelters syndrome males as well as XX females.
Gynecomastia klinefelters syndrome characteristics to some extent is present in about a third of individuals affected, a higher percentage than in the XY population.
  More results at FactBites »

 
 

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