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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

Gravholt CH, Andersen NH, Christin-Maitre S, Davis SM, Duijnhouwer A, Gawlik A, Maciel-Guerra AT, Gutmark-Little I, Fleischer K, Hong D, Klein KO, Prakash SK, Shankar RK, Sandberg DE, Sas TCJ, Skakkebæk A, Stochholm K, van der Velden JA; International Turner Syndrome Consensus Group, Backeljauw PF
Eur J Endocrinol 2024 Jun 5;190(6):G53-G151. doi: 10.1093/ejendo/lvae050. PMID: 38748847
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
Augoulea A, Zachou G, Lambrinoudaki I
Maturitas 2019 Dec;130:41-49. Epub 2019 Sep 25 doi: 10.1016/j.maturitas.2019.09.010. PMID: 31706435
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

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
Gaudino R, De Filippo G, Bozzola E, Gasparri M, Bozzola M, Villani A, Radetti G
Ital J Pediatr 2022 Mar 24;48(1):45. doi: 10.1186/s13052-022-01242-5. PMID: 35331309Free 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

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
Herrington CS, Poulsom R, Coates PJ
J Pathol 2020 Apr;250(5):475-479. doi: 10.1002/path.5425. PMID: 32346919
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

Prognosis

Urakami T
Minerva Pediatr 2020 Dec;72(6):472-483. Epub 2020 Aug 4 doi: 10.23736/S0026-4946.20.05971-X. PMID: 32748612
Bielińska E, Matiakowska K, Haus O
Postepy Hig Med Dosw (Online) 2017 Jul 11;71(0):595-601. doi: 10.5604/01.3001.0010.3840. PMID: 28791954
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
Bondy CA
Horm Res 2009 Jan;71 Suppl 1:52-6. Epub 2009 Jan 21 doi: 10.1159/000178039. PMID: 19153507

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
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
Al-Achkar W, Wafa A, Assaad M, Ehlers C, Liehr T
Mol Med Rep 2013 May;7(5):1545-8. Epub 2013 Feb 28 doi: 10.3892/mmr.2013.1349. PMID: 23450434

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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