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Klinefelter syndrome, XXY

MedGen UID:
44033
Concept ID:
C0022735
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); XXY 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

van Rijn S, de Sonneville L, Swaab H
Genes Brain Behav 2018 Jul;17(6):e12465. Epub 2018 Mar 22 doi: 10.1111/gbb.12465. PMID: 29406610
Dahl AR, Dhamija R, Al Nofal A, Pittock ST, Schwenk WF, Kumar S
J Clin Res Pediatr Endocrinol 2018 Mar 1;10(1):79-82. Epub 2017 Aug 2 doi: 10.4274/jcrpe.4807. PMID: 28766502Free PMC Article
Samango-Sprouse C, Keen C, Sadeghin T, Gropman A
Prenat Diagn 2017 May;37(5):497-501. Epub 2017 Apr 17 doi: 10.1002/pd.5044. PMID: 28346690
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

Diagnosis

Franik S, Smeets D, van de Zande G, Gomes I, D'Hauwers K, Braat DDM, Fleischer K, Ramos L
Andrologia 2018 Jun;50(5):e13004. Epub 2018 Mar 7 doi: 10.1111/and.13004. PMID: 29512178
Dahl AR, Dhamija R, Al Nofal A, Pittock ST, Schwenk WF, Kumar S
J Clin Res Pediatr Endocrinol 2018 Mar 1;10(1):79-82. Epub 2017 Aug 2 doi: 10.4274/jcrpe.4807. PMID: 28766502Free PMC Article
Rodrigues MA, Morgade LF, Dias LFA, Moreira RV, Maia PD, Sales AFH, Ribeiro PD
Genet Mol Res 2017 Sep 27;16(3) doi: 10.4238/gmr16039780. PMID: 28973759
Close S, Talboy A, Fennoy I
Pediatr Endocrinol Rev 2017 Jun;14(Suppl 2):462-471. doi: 10.17458/per.vol14.2017.ctf.complexitiescareklinefelter. PMID: 28647951
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

Therapy

Ross JL, Kushner H, Kowal K, Bardsley M, Davis S, Reiss AL, Tartaglia N, Roeltgen D
J Pediatr 2017 Jun;185:193-199.e4. Epub 2017 Mar 10 doi: 10.1016/j.jpeds.2017.02.036. PMID: 28285751
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

Prognosis

Franik S, Smeets D, van de Zande G, Gomes I, D'Hauwers K, Braat DDM, Fleischer K, Ramos L
Andrologia 2018 Jun;50(5):e13004. Epub 2018 Mar 7 doi: 10.1111/and.13004. PMID: 29512178
Samango-Sprouse C, Keen C, Sadeghin T, Gropman A
Prenat Diagn 2017 May;37(5):497-501. Epub 2017 Apr 17 doi: 10.1002/pd.5044. PMID: 28346690
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

Clinical prediction guides

Franik S, Smeets D, van de Zande G, Gomes I, D'Hauwers K, Braat DDM, Fleischer K, Ramos L
Andrologia 2018 Jun;50(5):e13004. Epub 2018 Mar 7 doi: 10.1111/and.13004. PMID: 29512178
Acar S, Tuhan H, Bora E, Demir K, Onay H, Erçal D, Böber E, Abacı A
Hormones (Athens) 2017 Jul;16(3):313-317. doi: 10.14310/horm.2002.1741. PMID: 29278518
Rodrigues MA, Morgade LF, Dias LFA, Moreira RV, Maia PD, Sales AFH, Ribeiro PD
Genet Mol Res 2017 Sep 27;16(3) doi: 10.4238/gmr16039780. PMID: 28973759
Samango-Sprouse C, Keen C, Sadeghin T, Gropman A
Prenat Diagn 2017 May;37(5):497-501. Epub 2017 Apr 17 doi: 10.1002/pd.5044. PMID: 28346690
Skakkebæk A, Wallentin M, Gravholt CH
Curr Opin Endocrinol Diabetes Obes 2015 Jun;22(3):209-16. doi: 10.1097/MED.0000000000000157. PMID: 25899809

Recent systematic reviews

O'Donovan R, Völlm B
Crim Behav Ment Health 2018 Apr;28(2):132-140. Epub 2017 Aug 7 doi: 10.1002/cbm.2052. PMID: 28782868
Corona G, Pizzocaro A, Lanfranco F, Garolla A, Pelliccione F, Vignozzi L, Ferlin A, Foresta C, Jannini EA, Maggi M, Lenzi A, Pasquali D, Francavilla S; Klinefelter ItaliaN Group (KING).
Hum Reprod Update 2017 May 1;23(3):265-275. doi: 10.1093/humupd/dmx008. PMID: 28379559
Margari L, Lamanna AL, Craig F, Simone M, Gentile M
Eur J Pediatr 2014 Mar;173(3):277-83. Epub 2014 Jan 25 doi: 10.1007/s00431-014-2267-9. PMID: 24464091
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
Denschlag D, Tempfer C, Kunze M, Wolff G, Keck C
Fertil Steril 2004 Oct;82(4):775-9. doi: 10.1016/j.fertnstert.2003.09.085. PMID: 15482743

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