U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Disorder of sexual differentiation

MedGen UID:
415936
Concept ID:
C2930619
Disease or Syndrome
Synonyms: Difference of sexual differentiation; Disorder of sex development
SNOMED CT: Disorder of sexual differentiation (39179006)
 
Monarch Initiative: MONDO:0002145
Orphanet: ORPHA90771

Definition

A congenital disorder characterized by abnormalities in the development of the sexual characteristics. [from NCI]

Professional guidelines

PubMed

Colindres JV, Axelrad M, McCullough L, Smith EO, Huang GO, Tu DD, Bercaw-Pratt JL, Cheni MJ, Mendiratta M, Gunn S, Sutton R, Macias C, Karaviti LP
Pediatr Endocrinol Rev 2016 Mar;13(3):585-601. PMID: 27116846
Hughes IA, Williams DM, Batch JA, Patterson MN
Horm Res 1992;38 Suppl 2:77-81. doi: 10.1159/000182604. PMID: 1292987
Elder JS
Surg Clin North Am 1988 Oct;68(5):983-1005. doi: 10.1016/s0039-6109(16)44633-5. PMID: 2902694

Recent clinical studies

Etiology

Patel K, Dessi D, Trivedi S
J Assoc Physicians India 2023 Jan;71(1):1. PMID: 37116050
Philips MR, Menon AR, Kumar GR, Malik K, Chandrasekaran S, Ramaswamy T, Narayanaswamy K, Raja A
Urol Oncol 2023 May;41(5):258.e1-258.e6. Epub 2023 Apr 3 doi: 10.1016/j.urolonc.2023.02.008. PMID: 37019765
Hennayake S, Barnes A, Mariotto A, Goyal A, Ajao A, Cserni T, Busby G, Patel L, Skae M, Nicholson J, Bianchi A
J Pediatr Urol 2022 Oct;18(5):611.e1-611.e8. Epub 2022 Jul 19 doi: 10.1016/j.jpurol.2022.07.007. PMID: 35970739
Colindres JV, Axelrad M, McCullough L, Smith EO, Huang GO, Tu DD, Bercaw-Pratt JL, Cheni MJ, Mendiratta M, Gunn S, Sutton R, Macias C, Karaviti LP
Pediatr Endocrinol Rev 2016 Mar;13(3):585-601. PMID: 27116846
Phalen A, Akhavan A, Hall SJ
Urology 2012 Mar;79(3):e38-9. Epub 2012 Jan 13 doi: 10.1016/j.urology.2011.11.016. PMID: 22245297

Diagnosis

Hryhorczuk AL, Phelps AS, Yu RN, Chow JS
Pediatr Radiol 2022 Apr;52(4):752-764. Epub 2021 Aug 5 doi: 10.1007/s00247-021-05147-z. PMID: 34355264
Smet ME, Scott FP, McLennan AC
Prenat Diagn 2020 Oct;40(11):1353-1365. Epub 2020 Aug 17 doi: 10.1002/pd.5676. PMID: 32125721
Garel J, Blondiaux E, Della Valle V, Guilbaud L, Khachab F, Jouannic JM, Ducou le Pointe H, Garel C
Pediatr Radiol 2020 Apr;50(4):575-582. Epub 2019 Nov 9 doi: 10.1007/s00247-019-04551-w. PMID: 31707446
Kang HJ, Imperato-McGinley J, Zhu YS, Rosenwaks Z
Fertil Steril 2014 Feb;101(2):310-6. Epub 2014 Jan 8 doi: 10.1016/j.fertnstert.2013.11.128. PMID: 24412121Free PMC Article
Rajfer J, Mendelsohn G, Arnheim J, Jeffs RD, Walsh PC
J Urol 1978 Apr;119(4):525-7. doi: 10.1016/s0022-5347(17)57536-9. PMID: 650759

Therapy

Jurat R, Rahimi MT, Barolia R
J Pediatr Urol 2021 Oct;17(5):674.e1-674.e7. Epub 2021 Jun 19 doi: 10.1016/j.jpurol.2021.06.016. PMID: 34226143
Kruszewska J, Krzywdzińska S, Grymowicz M, Smolarczyk R, Meczekalski B
Gynecol Endocrinol 2020 Jun;36(6):564-566. Epub 2019 Dec 20 doi: 10.1080/09513590.2019.1703941. PMID: 31858843
Vupputuri M, Kandepu M, Devireddy HR
Indian J Pediatr 2014 Aug;81(8):821-3. Epub 2013 May 24 doi: 10.1007/s12098-013-1032-9. PMID: 23702801
Pitteloud N, Villegas J, Dwyer AA, Crowley WF Jr, McPhaul MJ, Hayes FJ
J Clin Endocrinol Metab 2004 Mar;89(3):1053-8. doi: 10.1210/jc.2003-031373. PMID: 15001585
Elder JS
Surg Clin North Am 1988 Oct;68(5):983-1005. doi: 10.1016/s0039-6109(16)44633-5. PMID: 2902694

Prognosis

Garel J, Blondiaux E, Della Valle V, Guilbaud L, Khachab F, Jouannic JM, Ducou le Pointe H, Garel C
Pediatr Radiol 2020 Apr;50(4):575-582. Epub 2019 Nov 9 doi: 10.1007/s00247-019-04551-w. PMID: 31707446
Yan M, Dilihuma J, Luo Y, Reyilanmu B, Shen Y, Mireguli M
J Clin Res Pediatr Endocrinol 2019 May 28;11(2):211-217. Epub 2018 Nov 16 doi: 10.4274/jcrpe.galenos.2018.2018.0197. PMID: 30444213Free PMC Article
Deeb A, Al Suwaidi H, Ibukunoluwa F, Attia S
J Clin Res Pediatr Endocrinol 2016 Jun 5;8(2):236-40. Epub 2016 Apr 18 doi: 10.4274/jcrpe.2782. PMID: 27086719Free PMC Article
Alaerts K, Swinnen SP, Wenderoth N
Soc Cogn Affect Neurosci 2016 Jun;11(6):1002-16. Epub 2016 Mar 17 doi: 10.1093/scan/nsw027. PMID: 26989195Free PMC Article
Grover M, French S, Yazdani P
J Pediatr Endocrinol Metab 2015 Jul;28(7-8):937-41. doi: 10.1515/jpem-2014-0388. PMID: 25781530

Clinical prediction guides

Hennayake S, Barnes A, Mariotto A, Goyal A, Ajao A, Cserni T, Busby G, Patel L, Skae M, Nicholson J, Bianchi A
J Pediatr Urol 2022 Oct;18(5):611.e1-611.e8. Epub 2022 Jul 19 doi: 10.1016/j.jpurol.2022.07.007. PMID: 35970739
Yan M, Dilihuma J, Luo Y, Reyilanmu B, Shen Y, Mireguli M
J Clin Res Pediatr Endocrinol 2019 May 28;11(2):211-217. Epub 2018 Nov 16 doi: 10.4274/jcrpe.galenos.2018.2018.0197. PMID: 30444213Free PMC Article
Alaerts K, Swinnen SP, Wenderoth N
Soc Cogn Affect Neurosci 2016 Jun;11(6):1002-16. Epub 2016 Mar 17 doi: 10.1093/scan/nsw027. PMID: 26989195Free PMC Article
Segal RL, Massanyi EZ, Gupta AD, Gearhart JP, Redett RJ, Bivalacqua TJ, Burnett AL
Int J Impot Res 2015 Mar-Apr;27(2):49-53. Epub 2014 Aug 7 doi: 10.1038/ijir.2014.30. PMID: 25099636
Ostrer H, Wright G, Clayton M, Skordis N, MacGillivray MH
J Pediatr 1989 Jun;114(6):977-82. doi: 10.1016/s0022-3476(89)80441-x. PMID: 2723912

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...