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46,XY sex reversal 5(SRXY5)

MedGen UID:
414349
Concept ID:
C2751317
Disease or Syndrome
Synonyms: 46,XY GONADAL DYSGENESIS, COMPLETE, CBX2-RELATED; 46,XY SEX REVERSAL, CBX2-RELATED; DISORDER OF SEX DEVELOPMENT, 46,XY, CBX2-RELATED; SEX REVERSAL, XY, CBX2-RELATED
 
Gene (location): CBX2 (17q25.3)
 
Monarch Initiative: MONDO:0013120
OMIM®: 613080

Clinical features

From HPO
Abnormal female external genitalia morphology
MedGen UID:
867445
Concept ID:
C4021822
Anatomical Abnormality
Any structural abnormality of the female external genitalia.
Sex reversal
MedGen UID:
868596
Concept ID:
C4022995
Finding
Development of the reproductive system is inconsistent with the chromosomal sex.
Abnormal circulating luteinizing hormone concentration
MedGen UID:
663319
Concept ID:
C0580438
Finding
An anomaly of the circulating level of luteinizing hormone (LH).
Elevated circulating follicle stimulating hormone level
MedGen UID:
867192
Concept ID:
C4021550
Finding
An elevated concentration of follicle-stimulating hormone in the blood.
Abnormality of circulating cortisol level
MedGen UID:
868804
Concept ID:
C4023214
Finding
An abnormality of the concentration of cortisol in the blood.

Professional guidelines

PubMed

Banerjee B, Dutta A, Roy S, Halder A
J Obstet Gynaecol 2024 Dec;44(1):2348085. Epub 2024 May 6 doi: 10.1080/01443615.2024.2348085. PMID: 38708796
Gui B, Song Y, Su Z, Luo FH, Chen L, Wang X, Chen R, Yang Y, Wang J, Zhao X, Fan L, Liu X, Wang Y, Chen S, Gong C
J Med Genet 2019 Oct;56(10):685-692. Epub 2019 Jun 11 doi: 10.1136/jmedgenet-2018-105915. PMID: 31186340
Fukami M, Nishimura G, Homma K, Nagai T, Hanaki K, Uematsu A, Ishii T, Numakura C, Sawada H, Nakacho M, Kowase T, Motomura K, Haruna H, Nakamura M, Ohishi A, Adachi M, Tajima T, Hasegawa Y, Hasegawa T, Horikawa R, Fujieda K, Ogata T
J Clin Endocrinol Metab 2009 May;94(5):1723-31. Epub 2009 Mar 3 doi: 10.1210/jc.2008-2816. PMID: 19258400

Recent clinical studies

Etiology

Chan AO, But WM, Lee CY, Lam YY, Ng KL, Loung PY, Lam A, Cheng CW, Shek CC, Wong WS, Wong KF, Wong MY, Tse WY
Hong Kong Med J 2015 Dec;21(6):499-510. Epub 2015 Oct 16 doi: 10.12809/hkmj144402. PMID: 26492835
Kim GJ, Sock E, Buchberger A, Just W, Denzer F, Hoepffner W, German J, Cole T, Mann J, Seguin JH, Zipf W, Costigan C, Schmiady H, Rostásy M, Kramer M, Kaltenbach S, Rösler B, Georg I, Troppmann E, Teichmann AC, Salfelder A, Widholz SA, Wieacker P, Hiort O, Camerino G, Radi O, Wegner M, Arnold HH, Scherer G
J Med Genet 2015 Apr;52(4):240-7. Epub 2015 Jan 20 doi: 10.1136/jmedgenet-2014-102864. PMID: 25604083
Geckinli BB, Toksoy G, Sayar C, Soylemez MA, Yesil G, Aydın H, Karaman A, Devranoglu B
Eur J Obstet Gynecol Reprod Biol 2014 Nov;182:211-5. Epub 2014 Sep 28 doi: 10.1016/j.ejogrb.2014.09.033. PMID: 25445102
Ismail SI, Mazen IA
Sex Dev 2010 Sep;4(4-5):285-91. Epub 2010 Jul 24 doi: 10.1159/000317120. PMID: 20664246
Zhou C, Fu JJ, Li LY, Lu GX
Yi Chuan Xue Bao 2005 May;32(5):443-9. PMID: 16018252

Diagnosis

Banerjee B, Dutta A, Roy S, Halder A
J Obstet Gynaecol 2024 Dec;44(1):2348085. Epub 2024 May 6 doi: 10.1080/01443615.2024.2348085. PMID: 38708796
Croft B, Bird AD, Ono M, Eggers S, Bagheri-Fam S, Ryan JM, Reyes AP, van den Bergen J, Baxendale A, Thompson EM, Kueh AJ, Stanton P, Thomas T, Sinclair AH, Harley VR
Clin Genet 2023 Mar;103(3):277-287. Epub 2022 Nov 28 doi: 10.1111/cge.14261. PMID: 36349847Free PMC Article
Tsai CL, Tsai CN, Lee YS, Wang HS, Lee LY, Lin CY, Yang SY, Chao A
Fertil Steril 2020 Jul;114(1):133-143. Epub 2020 Jun 16 doi: 10.1016/j.fertnstert.2020.03.008. PMID: 32553473
Gonen N, Futtner CR, Wood S, Garcia-Moreno SA, Salamone IM, Samson SC, Sekido R, Poulat F, Maatouk DM, Lovell-Badge R
Science 2018 Jun 29;360(6396):1469-1473. Epub 2018 Jun 14 doi: 10.1126/science.aas9408. PMID: 29903884Free PMC Article
Hawkins JR
Hum Mutat 1993;2(5):347-50. doi: 10.1002/humu.1380020504. PMID: 8257986

Therapy

Birnbacher R, Marberger M, Weissenbacher G, Schober E, Frisch H
J Pediatr Endocrinol Metab 1999 Sep-Oct;12(5):687-90. doi: 10.1515/jpem.1999.12.5.687. PMID: 10703543
Kim MR, Qazi QH, Anderson VM, Valencia GB
Am J Obstet Gynecol 1995 Mar;172(3):1042-3. doi: 10.1016/0002-9378(95)90042-x. PMID: 7892846

Prognosis

Kırkgöz T, Gürsoy S, Acar S, Köprülü Ö, Özkaya B, Arslan G, Nalbantoğlu Ö, Hazan F, Özkan B
J Pediatr Endocrinol Metab 2024 Jun 25;37(6):575-579. Epub 2024 Apr 23 doi: 10.1515/jpem-2023-0551. PMID: 38650427
Ambulkar PS, Waghmare JE, Verma Shivkumar P, Narang P, Pal AK
Andrologia 2021 Jun;53(5):e14011. Epub 2021 Feb 11 doi: 10.1111/and.14011. PMID: 33570214
Känsäkoski J, Jääskeläinen J, Jääskeläinen T, Tommiska J, Saarinen L, Lehtonen R, Hautaniemi S, Frilander MJ, Palvimo JJ, Toppari J, Raivio T
Sci Rep 2016 Sep 9;6:32819. doi: 10.1038/srep32819. PMID: 27609317Free PMC Article

Clinical prediction guides

Ambulkar PS, Waghmare JE, Verma Shivkumar P, Narang P, Pal AK
Andrologia 2021 Jun;53(5):e14011. Epub 2021 Feb 11 doi: 10.1111/and.14011. PMID: 33570214
Wang N, Zhu W, Han B, Wang H, Zhu H, Chen Y, Chen Y, Liu J, Liu Y, Zhao S, Song H, Qiao J
J Clin Endocrinol Metab 2020 May 1;105(5) doi: 10.1210/clinem/dgaa109. PMID: 32140723
Joshi R, Das D, Tamhankar P, Shaikh S
Indian Pediatr 2014 May;51(5):399-400. PMID: 24953586
Rajender S, Thangaraj K, Gupta NJ, Leelavathy N, Rani DS, Nambiar RG, Kalavathy V, Santhiya ST, Rajangam S, Gopinath PM, Chakravarty B, Singh L
J Clin Endocrinol Metab 2006 Oct;91(10):4028-36. Epub 2006 Jul 25 doi: 10.1210/jc.2006-0950. PMID: 16868052
Cameron FJ, Hageman RM, Cooke-Yarborough C, Kwok C, Goodwin LL, Sillence DO, Sinclair AH
Hum Mol Genet 1996 Oct;5(10):1625-30. doi: 10.1093/hmg/5.10.1625. PMID: 8894698

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