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46, XX Gonadal Sex Reversal

MedGen UID:
445311
•Concept ID:
C2936420
•
Congenital Abnormality
Synonyms: Gonadal Sex Reversal, 46, XX; Sex Reversal, Gonadal, 46, XX

Professional guidelines

PubMed

Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 'DSDnet'.
Kulle A, Krone N, Holterhus PM, Schuler G, Greaves RF, Juul A, de Rijke YB, Hartmann MF, Saba A, Hiort O, Wudy SA; EU COST Action
Eur J Endocrinol 2017 May;176(5):P1-P9. Epub 2017 Feb 10 doi: 10.1530/EJE-16-0953. PMID: 28188242Free PMC Article
Cytogenic and molecular analyses of 46,XX male syndrome with clinical comparison to other groups with testicular azoospermia of genetic origin.
Chiang HS, Wu YN, Wu CC, Hwang JL
J Formos Med Assoc 2013 Feb;112(2):72-8. Epub 2012 Aug 30 doi: 10.1016/j.jfma.2012.02.009. PMID: 23380608

Recent clinical studies

Etiology

Ten cases with 46,XX testicular disorder of sex development: single center experience.
Akinsal EC, Baydilli N, Demirtas A, Saatci C, Ekmekcioglu O
Int Braz J Urol 2017 Jul-Aug;43(4):770-775. doi: 10.1590/S1677-5538.IBJU.2016.0505. PMID: 28379671Free PMC Article
Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 'DSDnet'.
Kulle A, Krone N, Holterhus PM, Schuler G, Greaves RF, Juul A, de Rijke YB, Hartmann MF, Saba A, Hiort O, Wudy SA; EU COST Action
Eur J Endocrinol 2017 May;176(5):P1-P9. Epub 2017 Feb 10 doi: 10.1530/EJE-16-0953. PMID: 28188242Free PMC Article
Gene expression profile during testicular development in patients with SRY-negative 46,XX testicular disorder of sex development.
Mizuno K, Kojima Y, Kamisawa H, Moritoki Y, Nishio H, Kohri K, Hayashi Y
Urology 2013 Dec;82(6):1453.e1-7. Epub 2013 Oct 19 doi: 10.1016/j.urology.2013.08.040. PMID: 24149105
Cytogenic and molecular analyses of 46,XX male syndrome with clinical comparison to other groups with testicular azoospermia of genetic origin.
Chiang HS, Wu YN, Wu CC, Hwang JL
J Formos Med Assoc 2013 Feb;112(2):72-8. Epub 2012 Aug 30 doi: 10.1016/j.jfma.2012.02.009. PMID: 23380608
A novel splice site and two known mutations of androgen receptor gene in sex-reversed XY phenotype.
Vasu VR, Saranya B, Jayashankar M, Munirajan AK, Santhiya ST
Genet Test Mol Biomarkers 2012 Jul;16(7):749-55. doi: 10.1089/gtmb.2011.0292. PMID: 22799610

Diagnosis

A Case Report of 46, XX Sex Reversal Syndrome.
Wang K, Lin H, Tu H, Xu Q, Xu G
Clin Lab 2018 Oct 1;64(10):1765-1767. doi: 10.7754/Clin.Lab.2018.180529. PMID: 30336531
Ten cases with 46,XX testicular disorder of sex development: single center experience.
Akinsal EC, Baydilli N, Demirtas A, Saatci C, Ekmekcioglu O
Int Braz J Urol 2017 Jul-Aug;43(4):770-775. doi: 10.1590/S1677-5538.IBJU.2016.0505. PMID: 28379671Free PMC Article
Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 'DSDnet'.
Kulle A, Krone N, Holterhus PM, Schuler G, Greaves RF, Juul A, de Rijke YB, Hartmann MF, Saba A, Hiort O, Wudy SA; EU COST Action
Eur J Endocrinol 2017 May;176(5):P1-P9. Epub 2017 Feb 10 doi: 10.1530/EJE-16-0953. PMID: 28188242Free PMC Article
45,XO/47,XXX/46,XX Male Sex Reversal Syndrome. A Case Report.
Pang XL, Long W, Li J, Yang J
J Reprod Med 2016 Sep;61(9-10):510-512. PMID: 30383953
Mammalian sex determination—insights from humans and mice.
Eggers S, Sinclair A
Chromosome Res 2012 Jan;20(1):215-38. doi: 10.1007/s10577-012-9274-3. PMID: 22290220Free PMC Article

Therapy

Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements.
Nakashima S, Ohishi A, Takada F, Kawamura H, Igarashi M, Fukami M, Ogata T
J Hum Genet 2014 Oct;59(10):549-53. Epub 2014 Aug 7 doi: 10.1038/jhg.2014.70. PMID: 25102093
Investigation of mutations in the SRY, SOX9, and DAX1 genes in sex reversal patients from the Sichuan region of China.
Chen L, Ding XP, Wei X, Li LX
Genet Mol Res 2014 Mar 12;13(1):1518-26. doi: 10.4238/2014.March.12.4. PMID: 24668626
Two males with SRY-positive 46,XX testicular disorder of sex development.
Gunes S, Asci R, Okten G, Atac F, Onat OE, Ogur G, Aydin O, Ozcelik T, Bagci H
Syst Biol Reprod Med 2013 Feb;59(1):42-7. Epub 2012 Oct 30 doi: 10.3109/19396368.2012.731624. PMID: 23110663
A novel splice site and two known mutations of androgen receptor gene in sex-reversed XY phenotype.
Vasu VR, Saranya B, Jayashankar M, Munirajan AK, Santhiya ST
Genet Test Mol Biomarkers 2012 Jul;16(7):749-55. doi: 10.1089/gtmb.2011.0292. PMID: 22799610

Clinical prediction guides

A Novel Mutation in the Critical P-Box Residue of Steroidogenic Factor-1 Presenting with XY Sex Reversal and Transient Adrenal Failure.
Orekhova AS, Kalinchenko N, Morozov IA, Vasilyev EV, Rubtsov PM, Dedov II, Tiulpakov A
Horm Res Paediatr 2018;89(6):450-454. Epub 2017 Nov 17 doi: 10.1159/000481776. PMID: 29151085
Cytogenetic analysis of patients with primary amenorrhea in Eastern India.
Ghosh S, Roy S, Pal P, Dutta A, Halder A
J Obstet Gynaecol 2018 Feb;38(2):270-275. Epub 2017 Oct 12 doi: 10.1080/01443615.2017.1353595. PMID: 29022424
A duplication upstream of SOX9 was not positively correlated with the SRY‑negative 46,XX testicular disorder of sex development: A case report and literature review.
Xia XY, Zhang C, Li TF, Wu QY, Li N, Li WW, Cui YX, Li XJ, Shi YC
Mol Med Rep 2015 Oct;12(4):5659-64. Epub 2015 Aug 10 doi: 10.3892/mmr.2015.4202. PMID: 26260363Free PMC Article
Cytogenic and molecular analyses of 46,XX male syndrome with clinical comparison to other groups with testicular azoospermia of genetic origin.
Chiang HS, Wu YN, Wu CC, Hwang JL
J Formos Med Assoc 2013 Feb;112(2):72-8. Epub 2012 Aug 30 doi: 10.1016/j.jfma.2012.02.009. PMID: 23380608
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions.
Onesimo R, Orteschi D, Scalzone M, Rossodivita A, Nanni L, Zannoni GF, Marrocco G, Battaglia D, Fundarò C, Neri G
Am J Med Genet A 2012 Sep;158A(9):2266-71. Epub 2012 Jul 20 doi: 10.1002/ajmg.a.35489. PMID: 22821627

Recent systematic reviews

46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review.
Terribile M, Stizzo M, Manfredi C, Quattrone C, Bottone F, Giordano DR, Bellastella G, Arcaniolo D, De Sio M
Medicina (Kaunas) 2019 Jul 12;55(7) doi: 10.3390/medicina55070371. PMID: 31336995Free PMC Article

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