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46,XY sex reversal 9(SRXY9)

MedGen UID:
863566
Concept ID:
C4015129
Disease or Syndrome
Synonyms: 46,XY SEX REVERSAL, ZFPM2-RELATED; SRXY9
 
Gene (location): ZFPM2 (8q23.1)
 
Monarch Initiative: MONDO:0014480
OMIM®: 616067

Clinical features

From HPO
Gonadal dysgenesis
MedGen UID:
9075
Concept ID:
C0018051
Congenital Abnormality
A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.
Ambiguous genitalia
MedGen UID:
78596
Concept ID:
C0266362
Congenital Abnormality
A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale
Fused labia minora
MedGen UID:
332475
Concept ID:
C1837532
Finding
Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.
Sex reversal
MedGen UID:
868596
Concept ID:
C4022995
Finding
Development of the reproductive system is inconsistent with the chromosomal sex.
Autistic behavior
MedGen UID:
163547
Concept ID:
C0856975
Mental or Behavioral Dysfunction
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.

Professional guidelines

PubMed

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

Recent clinical studies

Etiology

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
Chen YS, Racca JD, Phillips NB, Weiss MA
Proc Natl Acad Sci U S A 2013 Sep 17;110(38):E3567-76. Epub 2013 Sep 3 doi: 10.1073/pnas.1300828110. PMID: 24003159Free PMC Article
Guaragna MS, Lutaif AC, Bittencourt VB, Piveta CS, Soardi FC, Castro LC, Belangero VM, Maciel-Guerra AT, Guerra-Junior G, Mello MP
Arq Bras Endocrinol Metabol 2012 Nov;56(8):525-32. doi: 10.1590/s0004-27302012000800011. PMID: 23295293
Barbaro M, Balsamo A, Anderlid BM, Myhre AG, Gennari M, Nicoletti A, Pittalis MC, Oscarson M, Wedell A
Eur J Hum Genet 2009 Nov;17(11):1439-47. Epub 2009 May 6 doi: 10.1038/ejhg.2009.70. PMID: 19417767Free PMC Article
Flejter WL, Fergestad J, Gorski J, Varvill T, Chandrasekharappa S
Am J Hum Genet 1998 Sep;63(3):794-802. doi: 10.1086/302016. PMID: 9718346Free PMC Article

Diagnosis

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
Matusik P, Gach A, Zajdel-Cwynar O, Pinkier I, Kudela G, Gawlik A
Int J Environ Res Public Health 2021 Jul 5;18(13) doi: 10.3390/ijerph18137186. PMID: 34281122Free PMC Article
Harrison SM, Campbell IM, Keays M, Granberg CF, Villanueva C, Tannin G, Zinn AR, Castrillon DH, Shaw CA, Stankiewicz P, Baker LA
Am J Med Genet A 2013 Oct;161A(10):2487-94. Epub 2013 Aug 5 doi: 10.1002/ajmg.a.36084. PMID: 23918653Free PMC Article
Dai YL, Fu JF, Hong F, Xu S, Shen Z
Acta Paediatr 2011 Jul;100(7):e39-42. Epub 2011 Feb 14 doi: 10.1111/j.1651-2227.2011.02167.x. PMID: 21314844
Schlaubitz S, Yatsenko SA, Smith LD, Keller KL, Vissers LE, Scott DA, Cai WW, Reardon W, Abdul-Rahman OA, Lammer EJ, Lifchez CA, Magenis E, Veltman JA, Stankiewicz P, Zabel BU, Lee B
Am J Med Genet A 2007 May 15;143A(10):1071-81. doi: 10.1002/ajmg.a.31685. PMID: 17431898

Therapy

Juul A, Almstrup K, Andersson AM, Jensen TK, Jørgensen N, Main KM, Rajpert-De Meyts E, Toppari J, Skakkebæk NE
Nat Rev Endocrinol 2014 Sep;10(9):553-62. Epub 2014 Jun 17 doi: 10.1038/nrendo.2014.97. PMID: 24935122
Bradley SJ, Oliver GD, Chernick AB, Zucker KJ
Pediatrics 1998 Jul;102(1):e9. doi: 10.1542/peds.102.1.e9. PMID: 9651461

Prognosis

Ottolenghi C, Veitia R, Barbieri M, Fellous M, McElreavey K
Genomics 2000 Mar 1;64(2):179-86. doi: 10.1006/geno.2000.6120. PMID: 10729224
Bradley SJ, Oliver GD, Chernick AB, Zucker KJ
Pediatrics 1998 Jul;102(1):e9. doi: 10.1542/peds.102.1.e9. PMID: 9651461

Clinical prediction guides

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
Juul A, Almstrup K, Andersson AM, Jensen TK, Jørgensen N, Main KM, Rajpert-De Meyts E, Toppari J, Skakkebæk NE
Nat Rev Endocrinol 2014 Sep;10(9):553-62. Epub 2014 Jun 17 doi: 10.1038/nrendo.2014.97. PMID: 24935122
Chen YS, Racca JD, Phillips NB, Weiss MA
Proc Natl Acad Sci U S A 2013 Sep 17;110(38):E3567-76. Epub 2013 Sep 3 doi: 10.1073/pnas.1300828110. PMID: 24003159Free PMC Article
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
McDonald MT, Flejter W, Sheldon S, Putzi MJ, Gorski JL
Am J Med Genet 1997 Dec 19;73(3):321-6. PMID: 9415692

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