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Sex chromosome disorder of sex development

MedGen UID:
423530
Concept ID:
C2936421
Congenital Abnormality
Synonyms: Chromosome DSD, Sex; Chromosome DSDs, Sex; DSD, Sex Chromosome; DSDs, Sex Chromosome; Sex Chromosome Disorders of Sex Development; Sex Chromosome DSD; Sex Chromosome DSDs
 
Monarch Initiative: MONDO:0017975
Orphanet: ORPHA325546

Definition

A condition affecting gonadal and/or internal and/or external reproductive/genital development in which there is an atypical number of sex chromosomes (i.e. fewer or greater than the typical 2 X chromosomes or 1 X and 1 Y chromosome). [from NCI]

Professional guidelines

PubMed

Bertelloni S, Baroncelli GI, Massart F, Toschi B
Sex Dev 2015;9(4):183-9. Epub 2015 Nov 4 doi: 10.1159/000441342. PMID: 26529521

Recent clinical studies

Etiology

Krausz C, Navarro-Costa P, Wilke M, Tüttelmann F
Andrology 2024 Mar;12(3):487-504. Epub 2023 Sep 6 doi: 10.1111/andr.13514. PMID: 37674303
Butler G, Srirangalingam U, Faithfull J, Sangster P, Senniappan S, Mitchell R
Arch Dis Child 2023 Mar;108(3):166-171. Epub 2022 Aug 10 doi: 10.1136/archdischild-2020-320831. PMID: 35948402Free PMC Article
Witchel SF
Best Pract Res Clin Obstet Gynaecol 2018 Apr;48:90-102. Epub 2017 Nov 22 doi: 10.1016/j.bpobgyn.2017.11.005. PMID: 29503125Free PMC Article
Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, Baratz Dalke K, Liao LM, Lin-Su K, Looijenga LH 3rd, Mazur T, Meyer-Bahlburg HF, Mouriquand P, Quigley CA, Sandberg DE, Vilain E, Witchel S; Global DSD Update Consortium
Horm Res Paediatr 2016;85(3):158-80. Epub 2016 Jan 28 doi: 10.1159/000442975. PMID: 26820577
Krausz C, Hoefsloot L, Simoni M, Tüttelmann F; European Academy of Andrology; European Molecular Genetics Quality Network
Andrology 2014 Jan;2(1):5-19. doi: 10.1111/j.2047-2927.2013.00173.x. PMID: 24357628Free PMC Article

Diagnosis

Reyes AP, León NY, Frost ER, Harley VR
Nat Rev Urol 2023 Jul;20(7):434-451. Epub 2023 Apr 5 doi: 10.1038/s41585-023-00754-x. PMID: 37020056
Aly J, Kruszka P
Curr Opin Pediatr 2022 Aug 1;34(4):447-460. Epub 2022 Jul 5 doi: 10.1097/MOP.0000000000001135. PMID: 35796656
Urakami T
Minerva Pediatr 2020 Dec;72(6):472-483. Epub 2020 Aug 4 doi: 10.23736/S0026-4946.20.05971-X. PMID: 32748612
Witchel SF
Best Pract Res Clin Obstet Gynaecol 2018 Apr;48:90-102. Epub 2017 Nov 22 doi: 10.1016/j.bpobgyn.2017.11.005. PMID: 29503125Free PMC Article
Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, Baratz Dalke K, Liao LM, Lin-Su K, Looijenga LH 3rd, Mazur T, Meyer-Bahlburg HF, Mouriquand P, Quigley CA, Sandberg DE, Vilain E, Witchel S; Global DSD Update Consortium
Horm Res Paediatr 2016;85(3):158-80. Epub 2016 Jan 28 doi: 10.1159/000442975. PMID: 26820577

Therapy

Butler G, Srirangalingam U, Faithfull J, Sangster P, Senniappan S, Mitchell R
Arch Dis Child 2023 Mar;108(3):166-171. Epub 2022 Aug 10 doi: 10.1136/archdischild-2020-320831. PMID: 35948402Free PMC Article
Isojima T, Yokoya S
Front Endocrinol (Lausanne) 2022;13:1068128. Epub 2023 Jan 12 doi: 10.3389/fendo.2022.1068128. PMID: 36714599Free PMC Article
Klein KO, Rosenfield RL, Santen RJ, Gawlik AM, Backeljauw PF, Gravholt CH, Sas TCJ, Mauras N
J Clin Endocrinol Metab 2018 May 1;103(5):1790-1803. doi: 10.1210/jc.2017-02183. PMID: 29438552
Skuse D, Printzlau F, Wolstencroft J
Handb Clin Neurol 2018;147:355-376. doi: 10.1016/B978-0-444-63233-3.00024-5. PMID: 29325624
Gomel V
Can Med Assoc J 1974 Jul 20;111(2):167-9. PMID: 4276392Free PMC Article

Prognosis

Kanoni S, Graham SE, Wang Y, Surakka I, Ramdas S, Zhu X, Clarke SL, Bhatti KF, Vedantam S, Winkler TW, Locke AE, Marouli E, Zajac GJM, Wu KH, Ntalla I, Hui Q, Klarin D, Hilliard AT, Wang Z, Xue C, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Hwang MY, Han S, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Havulinna AS, Veturi Y, Pacheco JA, Rosenthal EA, Lingren T, Feng Q, Kullo IJ, Narita A, Takayama J, Martin HC, Hunt KA, Trivedi B, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Rasheed A, Hindy G, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Choudhury A, Sengupta D, Mahajan A, Brown MR, Zhang W, Yu K, Schmidt EM, Pandit A, Gustafsson S, Yin X, Luan J, Zhao JH, Matsuda F, Jang HM, Yoon K, Medina-Gomez C, Pitsillides A, Hottenga JJ, Wood AR, Ji Y, Gao Z, Haworth S, Yousri NA, Mitchell RE, Chai JF, Aadahl M, Bjerregaard AA, Yao J, Manichaikul A, Hwu CM, Hung YJ, Warren HR, Ramirez J, Bork-Jensen J, Kårhus LL, Goel A, Sabater-Lleal M, Noordam R, Mauro P, Matteo F, McDaid AF, Marques-Vidal P, Wielscher M, Trompet S, Sattar N, Møllehave LT, Munz M, Zeng L, Huang J, Yang B, Poveda A, Kurbasic A, Lamina C, Forer L, Scholz M, Galesloot TE, Bradfield JP, Ruotsalainen SE, Daw E, Zmuda JM, Mitchell JS, Fuchsberger C, Christensen H, Brody JA, Vazquez-Moreno M, Feitosa MF, Wojczynski MK, Wang Z, Preuss MH, Mangino M, Christofidou P, Verweij N, Benjamins JW, Engmann J, Tsao NL, Verma A, Slieker RC, Lo KS, Zilhao NR, Le P, Kleber ME, Delgado GE, Huo S, Ikeda DD, Iha H, Yang J, Liu J, Demirkan A, Leonard HL, Marten J, Frank M, Schmidt B, Smyth LJ, Cañadas-Garre M, Wang C, Nakatochi M, Wong A, Hutri-Kähönen N, Sim X, Xia R, Huerta-Chagoya A, Fernandez-Lopez JC, Lyssenko V, Nongmaithem SS, Bayyana S, Stringham HM, Irvin MR, Oldmeadow C, Kim HN, Ryu S, Timmers PRHJ, Arbeeva L, Dorajoo R, Lange LA, Prasad G, Lorés-Motta L, Pauper M, Long J, Li X, Theusch E, Takeuchi F, Spracklen CN, Loukola A, Bollepalli S, Warner SC, Wang YX, Wei WB, Nutile T, Ruggiero D, Sung YJ, Chen S, Liu F, Yang J, Kentistou KA, Banas B, Nardone GG, Meidtner K, Bielak LF, Smith JA, Hebbar P, Farmaki AE, Hofer E, Lin M, Concas MP, Vaccargiu S, van der Most PJ, Pitkänen N, Cade BE, van der Laan SW, Chitrala KN, Weiss S, Bentley AR, Doumatey AP, Adeyemo AA, Lee JY, Petersen ERB, Nielsen AA, Choi HS, Nethander M, Freitag-Wolf S, Southam L, Rayner NW, Wang CA, Lin SY, Wang JS, Couture C, Lyytikäinen LP, Nikus K, Cuellar-Partida G, Vestergaard H, Hidalgo B, Giannakopoulou O, Cai Q, Obura MO, van Setten J, Li X, Liang J, Tang H, Terzikhan N, Shin JH, Jackson RD, Reiner AP, Martin LW, Chen Z, Li L, Kawaguchi T, Thiery J, Bis JC, Launer LJ, Li H, Nalls MA, Raitakari OT, Ichihara S, Wild SH, Nelson CP, Campbell H, Jäger S, Nabika T, Al-Mulla F, Niinikoski H, Braund PS, Kolcic I, Kovacs P, Giardoglou T, Katsuya T, de Kleijn D, de Borst GJ, Kim EK, Adams HHH, Ikram MA, Zhu X, Asselbergs FW, Kraaijeveld AO, Beulens JWJ, Shu XO, Rallidis LS, Pedersen O, Hansen T, Mitchell P, Hewitt AW, Kähönen M, Pérusse L, Bouchard C, Tönjes A, Chen YI, Pennell CE, Mori TA, Lieb W, Franke A, Ohlsson C, Mellström D, Cho YS, Lee H, Yuan JM, Koh WP, Rhee SY, Woo JT, Heid IM, Stark KJ, Zimmermann ME, Völzke H, Homuth G, Evans MK, Zonderman AB, Polasek O, Pasterkamp G, Hoefer IE, Redline S, Pahkala K, Oldehinkel AJ, Snieder H, Biino G, Schmidt R, Schmidt H, Bandinelli S, Dedoussis G, Thanaraj TA, Kardia SLR, Peyser PA, Kato N, Schulze MB, Girotto G, Böger CA, Jung B, Joshi PK, Bennett DA, De Jager PL, Lu X, Mamakou V, Brown M, Caulfield MJ, Munroe PB, Guo X, Ciullo M, Jonas JB, Samani NJ, Kaprio J, Pajukanta P, Tusié-Luna T, Aguilar-Salinas CA, Adair LS, Bechayda SA, de Silva HJ, Wickremasinghe AR, Krauss RM, Wu JY, Zheng W, Hollander AI, Bharadwaj D, Correa A, Wilson JG, Lind L, Heng CK, Nelson AE, Golightly YM, Wilson JF, Penninx B, Kim HL, Attia J, Scott RJ, Rao DC, Arnett DK, Hunt SC, Walker M, Koistinen HA, Chandak GR, Mercader JM, Costanzo MC, Jang D, Burtt NP, Villalpando CG, Orozco L, Fornage M, Tai E, van Dam RM, Lehtimäki T, Chaturvedi N, Yokota M, Liu J, Reilly DF, McKnight AJ, Kee F, Jöckel KH, McCarthy MI, Palmer CNA, Vitart V, Hayward C, Simonsick E, van Duijn CM, Jin ZB, Qu J, Hishigaki H, Lin X, März W, Gudnason V, Tardif JC, Lettre G, Hart LM', Elders PJM, Damrauer SM, Kumari M, Kivimaki M, van der Harst P, Spector TD, Loos RJF, Province MA, Parra EJ, Cruz M, Psaty BM, Brandslund I, Pramstaller PP, Rotimi CN, Christensen K, Ripatti S, Widén E, Hakonarson H, Grant SFA, Kiemeney LALM, de Graaf J, Loeffler M, Kronenberg F, Gu D, Erdmann J, Schunkert H, Franks PW, Linneberg A, Jukema JW, Khera AV, Männikkö M, Jarvelin MR, Kutalik Z, Francesco C, Mook-Kanamori DO, van Dijk KW, Watkins H, Strachan DP, Grarup N, Sever P, Poulter N, Chuang LM, Rotter JI, Dantoft TM, Karpe F, Neville MJ, Timpson NJ, Cheng CY, Wong TY, Khor CC, Li H, Sabanayagam C, Peters A, Gieger C, Hattersley AT, Pedersen NL, Magnusson PKE, Boomsma DI, Willemsen AHM, Cupples L, van Meurs JBJ, Ghanbari M, Gordon-Larsen P, Huang W, Kim YJ, Tabara Y, Wareham NJ, Langenberg C, Zeggini E, Kuusisto J, Laakso M, Ingelsson E, Abecasis G, Chambers JC, Kooner JS, de Vries PS, Morrison AC, Hazelhurst S, Ramsay M, North KE, Daviglus M, Kraft P, Martin NG, Whitfield JB, Abbas S, Saleheen D, Walters RG, Holmes MV, Black C, Smith BH, Baras A, Justice AE, Buring JE, Ridker PM, Chasman DI, Kooperberg C, Tamiya G, Yamamoto M, van Heel DA, Trembath RC, Wei WQ, Jarvik GP, Namjou B, Hayes MG, Ritchie MD, Jousilahti P, Salomaa V, Hveem K, Åsvold BO, Kubo M, Kamatani Y, Okada Y, Murakami Y, Kim BJ, Thorsteinsdottir U, Stefansson K, Zhang J, Chen Y, Ho YL, Lynch JA, Rader DJ, Tsao PS, Chang KM, Cho K, O'Donnell CJ, Gaziano JM, Wilson PWF, Frayling TM, Hirschhorn JN, Kathiresan S, Mohlke KL, Sun YV, Morris AP, Boehnke M, Brown CD, Natarajan P, Deloukas P, Willer CJ, Assimes TL, Peloso GM
Genome Biol 2022 Dec 27;23(1):268. doi: 10.1186/s13059-022-02837-1. PMID: 36575460Free PMC Article
Moliterno AR, Braunstein EM
Int Rev Cell Mol Biol 2022;366:1-24. Epub 2021 Sep 30 doi: 10.1016/bs.ircmb.2021.08.001. PMID: 35153002
Urakami T
Minerva Pediatr 2020 Dec;72(6):472-483. Epub 2020 Aug 4 doi: 10.23736/S0026-4946.20.05971-X. PMID: 32748612
Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, Baratz Dalke K, Liao LM, Lin-Su K, Looijenga LH 3rd, Mazur T, Meyer-Bahlburg HF, Mouriquand P, Quigley CA, Sandberg DE, Vilain E, Witchel S; Global DSD Update Consortium
Horm Res Paediatr 2016;85(3):158-80. Epub 2016 Jan 28 doi: 10.1159/000442975. PMID: 26820577
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L
Orphanet J Rare Dis 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. PMID: 20459843Free PMC Article

Clinical prediction guides

Isojima T, Yokoya S
Front Endocrinol (Lausanne) 2022;13:1068128. Epub 2023 Jan 12 doi: 10.3389/fendo.2022.1068128. PMID: 36714599Free PMC Article
Urakami T
Minerva Pediatr 2020 Dec;72(6):472-483. Epub 2020 Aug 4 doi: 10.23736/S0026-4946.20.05971-X. PMID: 32748612
Badeau M, Lindsay C, Blais J, Nshimyumukiza L, Takwoingi Y, Langlois S, Légaré F, Giguère Y, Turgeon AF, Witteman W, Rousseau F
Cochrane Database Syst Rev 2017 Nov 10;11(11):CD011767. doi: 10.1002/14651858.CD011767.pub2. PMID: 29125628Free PMC Article
Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH
Genome Biol 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y. PMID: 27899157Free PMC Article
Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, Baratz Dalke K, Liao LM, Lin-Su K, Looijenga LH 3rd, Mazur T, Meyer-Bahlburg HF, Mouriquand P, Quigley CA, Sandberg DE, Vilain E, Witchel S; Global DSD Update Consortium
Horm Res Paediatr 2016;85(3):158-80. Epub 2016 Jan 28 doi: 10.1159/000442975. PMID: 26820577

Recent systematic reviews

Dwyer AA, Héritier V, Llahana S, Edelman L, Papadakis GE, Vaucher L, Pitteloud N, Hauschild M
Front Endocrinol (Lausanne) 2022;13:909830. Epub 2022 Jun 24 doi: 10.3389/fendo.2022.909830. PMID: 35813640Free PMC Article
Liang B, Cheung AS, Nolan BJ
Clin Endocrinol (Oxf) 2022 Jul;97(1):3-12. Epub 2022 Apr 15 doi: 10.1111/cen.14734. PMID: 35394664Free PMC Article
Babu R, Shah U
J Pediatr Urol 2021 Feb;17(1):39-47. Epub 2020 Nov 12 doi: 10.1016/j.jpurol.2020.11.017. PMID: 33246831
Reis CT, de Assumpção MS, Guerra-Junior G, de Lemos-Marini SHV
Qual Life Res 2018 Aug;27(8):1985-2006. Epub 2018 Feb 9 doi: 10.1007/s11136-018-1810-y. PMID: 29427215
Badeau M, Lindsay C, Blais J, Nshimyumukiza L, Takwoingi Y, Langlois S, Légaré F, Giguère Y, Turgeon AF, Witteman W, Rousseau F
Cochrane Database Syst Rev 2017 Nov 10;11(11):CD011767. doi: 10.1002/14651858.CD011767.pub2. PMID: 29125628Free PMC Article

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