Format

Send to:

Choose Destination

Klinefelter syndrome, XXY

MedGen UID:
44033
Concept ID:
C0022735
Congenital Abnormality; Disease or Syndrome
Synonyms: 47,XXY; Klinefelter syndrome; Klinefelter's syndrome; Klinefelter's syndrome, XXY; XXY syndrome; XXY trisomy
SNOMED CT: Klinefelter's syndrome, XXY (405769009); Klinefelter's syndrome (405769009); XXY syndrome (405769009); Klinefelter syndrome (405769009); Klinefelter's syndrome karyotype 47 XXY (405769009); XXY Klinefelter's syndrome (405769009); Klinefelter syndrome, XXY (405769009); Klinefelter syndrome (22053006); Klinefelter's syndrome (22053006)
 

Definition

Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Its signs and symptoms vary among affected individuals.Affected individuals typically have small testes that do not produce as much testosterone as usual. Testosterone is the hormone that directs male sexual development before birth and during puberty. A shortage of testosterone can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), reduced facial and body hair, and an inability to have biological children (infertility). Some affected individuals also have genital differences including undescended testes (cryptorchidism), the opening of the urethra on the underside of the penis (hypospadias), or an unusually small penis (micropenis).Older children and adults with Klinefelter syndrome tend to be taller than their peers. Compared with unaffected men, adults with Klinefelter syndrome have an increased risk of developing breast cancer and a chronic inflammatory disease called systemic lupus erythematosus. Their chance of developing these disorders is similar to that of women in the general population.Children with Klinefelter syndrome may have learning disabilities and delayed speech and language development. They tend to be quiet, sensitive, and unassertive, but personality characteristics vary among affected individuals.
[from GHR]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVKlinefelter syndrome, XXY

Professional guidelines

PubMed

Gregg AR, Skotko BG, Benkendorf JL, Monaghan KG, Bajaj K, Best RG, Klugman S, Watson MS
Genet Med 2016 Oct;18(10):1056-65. Epub 2016 Jul 28 doi: 10.1038/gim.2016.97. PMID: 27467454
Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC; European Society of Human Genetics.; American Society of Human Genetics.
Eur J Hum Genet 2015 Nov;23(11):1438-50. Epub 2015 Mar 18 doi: 10.1038/ejhg.2015.57. PMID: 25782669Free PMC Article

Suggested Reading

PubMed

Frühmesser A, Kotzot D
Sex Dev 2011;5(3):109-23. Epub 2011 Apr 29 doi: 10.1159/000327324. PMID: 21540567

Recent clinical studies

Etiology

Dotters-Katz SK, Humphrey WM, Senz KL, Lee VR, Shaffer BL, Caughey AB
Eur J Obstet Gynecol Reprod Biol 2016 Aug;203:173-6. Epub 2016 Jun 9 doi: 10.1016/j.ejogrb.2016.05.006. PMID: 27318449
van Rijn S
J Int Neuropsychol Soc 2015 May;21(5):364-72. Epub 2015 May 28 doi: 10.1017/S1355617715000302. PMID: 26018944
Yabuno Y, Tosa M, Iwakiri I, Nomoto S, Kaneko M, Kuwahara K, Hyakusoku H, Murakami M
J Nippon Med Sch 2015;82(1):64-7. doi: 10.1272/jnms.82.64. PMID: 25797879
Plotton I, Brosse A, Cuzin B, Lejeune H
Ann Endocrinol (Paris) 2014 May;75(2):118-25. Epub 2014 Apr 29 doi: 10.1016/j.ando.2014.04.004. PMID: 24786702
van Rijn S, Barendse M, van Goozen S, Swaab H
PLoS One 2014;9(1):e84721. Epub 2014 Jan 8 doi: 10.1371/journal.pone.0084721. PMID: 24416272Free PMC Article

Diagnosis

Dotters-Katz SK, Humphrey WM, Senz KL, Lee VR, Shaffer BL, Caughey AB
Eur J Obstet Gynecol Reprod Biol 2016 Aug;203:173-6. Epub 2016 Jun 9 doi: 10.1016/j.ejogrb.2016.05.006. PMID: 27318449
Tremblay I, Van Vliet G, Gonthier M, Janvier A
Acta Paediatr 2016 May;105(5):456-61. Epub 2016 Jan 20 doi: 10.1111/apa.13301. PMID: 26683842
Yabuno Y, Tosa M, Iwakiri I, Nomoto S, Kaneko M, Kuwahara K, Hyakusoku H, Murakami M
J Nippon Med Sch 2015;82(1):64-7. doi: 10.1272/jnms.82.64. PMID: 25797879
Rives N, Milazzo JP, Perdrix A, Castanet M, Joly-Hélas G, Sibert L, Bironneau A, Way A, Macé B
Hum Reprod 2013 Jun;28(6):1468-79. Epub 2013 Mar 28 doi: 10.1093/humrep/det084. PMID: 23539613
Aksglaede L, Link K, Giwercman A, Jørgensen N, Skakkebaek NE, Juul A
Am J Med Genet C Semin Med Genet 2013 Feb 15;163C(1):55-63. Epub 2013 Jan 23 doi: 10.1002/ajmg.c.31349. PMID: 23345262

Therapy

Dotters-Katz SK, Humphrey WM, Senz KL, Lee VR, Shaffer BL, Caughey AB
Eur J Obstet Gynecol Reprod Biol 2016 Aug;203:173-6. Epub 2016 Jun 9 doi: 10.1016/j.ejogrb.2016.05.006. PMID: 27318449
Plotton I, Giscard d'Estaing S, Cuzin B, Brosse A, Benchaib M, Lornage J, Ecochard R, Dijoud F, Lejeune H; FERTIPRESERVE group.
J Clin Endocrinol Metab 2015 Mar;100(3):961-7. Epub 2014 Nov 25 doi: 10.1210/jc.2014-3083. PMID: 25423570
Plotton I, Brosse A, Cuzin B, Lejeune H
Ann Endocrinol (Paris) 2014 May;75(2):118-25. Epub 2014 Apr 29 doi: 10.1016/j.ando.2014.04.004. PMID: 24786702
Rives N, Milazzo JP, Perdrix A, Castanet M, Joly-Hélas G, Sibert L, Bironneau A, Way A, Macé B
Hum Reprod 2013 Jun;28(6):1468-79. Epub 2013 Mar 28 doi: 10.1093/humrep/det084. PMID: 23539613
Matlach J, Grehn F, Klink T
J Glaucoma 2013 Jun-Jul;22(5):e7-8. doi: 10.1097/IJG.0b013e31824477ef. PMID: 22274665

Prognosis

Nahata L, Yu RN, Paltiel HJ, Chow JS, Logvinenko T, Rosoklija I, Cohen LE
J Pediatr 2016 Mar;170:260-5.e1-2. Epub 2015 Dec 31 doi: 10.1016/j.jpeds.2015.12.028. PMID: 26746120
Plotton I, Giscard d'Estaing S, Cuzin B, Brosse A, Benchaib M, Lornage J, Ecochard R, Dijoud F, Lejeune H; FERTIPRESERVE group.
J Clin Endocrinol Metab 2015 Mar;100(3):961-7. Epub 2014 Nov 25 doi: 10.1210/jc.2014-3083. PMID: 25423570
Turriff A, Levy HP, Biesecker B
Patient Educ Couns 2015 Jan;98(1):90-5. Epub 2014 Aug 27 doi: 10.1016/j.pec.2014.08.012. PMID: 25239793Free PMC Article
Rives N, Milazzo JP, Perdrix A, Castanet M, Joly-Hélas G, Sibert L, Bironneau A, Way A, Macé B
Hum Reprod 2013 Jun;28(6):1468-79. Epub 2013 Mar 28 doi: 10.1093/humrep/det084. PMID: 23539613
Jiang-Feng M, Hong-Li X, Xue-Yan W, Min N, Shuang-Yu L, Hong-Ding X, Liang-Ming L
Fertil Steril 2012 Nov;98(5):1331-5. Epub 2012 Aug 30 doi: 10.1016/j.fertnstert.2012.07.1122. PMID: 22940087

Clinical prediction guides

Nahata L, Yu RN, Paltiel HJ, Chow JS, Logvinenko T, Rosoklija I, Cohen LE
J Pediatr 2016 Mar;170:260-5.e1-2. Epub 2015 Dec 31 doi: 10.1016/j.jpeds.2015.12.028. PMID: 26746120
Skakkebæk A, Wallentin M, Gravholt CH
Curr Opin Endocrinol Diabetes Obes 2015 Jun;22(3):209-16. doi: 10.1097/MED.0000000000000157. PMID: 25899809
Turriff A, Levy HP, Biesecker B
Patient Educ Couns 2015 Jan;98(1):90-5. Epub 2014 Aug 27 doi: 10.1016/j.pec.2014.08.012. PMID: 25239793Free PMC Article
Busch AS, Tüttelmann F, Zitzmann M, Kliesch S, Gromoll J
Eur J Hum Genet 2015 May;23(5):700-3. Epub 2014 Jul 23 doi: 10.1038/ejhg.2014.142. PMID: 25052309Free PMC Article
Rives N, Milazzo JP, Perdrix A, Castanet M, Joly-Hélas G, Sibert L, Bironneau A, Way A, Macé B
Hum Reprod 2013 Jun;28(6):1468-79. Epub 2013 Mar 28 doi: 10.1093/humrep/det084. PMID: 23539613

Recent systematic reviews

Salzano A, Arcopinto M, Marra AM, Bobbio E, Esposito D, Accardo G, Giallauria F, Bossone E, Vigorito C, Lenzi A, Pasquali D, Isidori AM, Cittadini A
Eur J Endocrinol 2016 Jul;175(1):R27-40. Epub 2016 Feb 5 doi: 10.1530/EJE-15-1025. PMID: 26850445
Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A
J Clin Endocrinol Metab 2013 Jan;98(1):20-30. Epub 2012 Nov 1 doi: 10.1210/jc.2012-2382. PMID: 23118429
Mehta A, Paduch DA
Fertil Steril 2012 Aug;98(2):274-83. Epub 2012 Jun 23 doi: 10.1016/j.fertnstert.2012.06.001. PMID: 22732737
Radicioni AF, Ferlin A, Balercia G, Pasquali D, Vignozzi L, Maggi M, Foresta C, Lenzi A
J Endocrinol Invest 2010 Dec;33(11):839-50. doi: 10.1007/BF03350351. PMID: 21293172
Morris JK, Alberman E, Scott C, Jacobs P
Eur J Hum Genet 2008 Feb;16(2):163-70. Epub 2007 Nov 14 doi: 10.1038/sj.ejhg.5201956. PMID: 18000523

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center