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46,XY sex reversal 7(GDXYM; SRXY7)

MedGen UID:
383876
Concept ID:
C1856273
Congenital Abnormality
Synonyms: 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, DHH-RELATED; 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, DHH-RELATED; DHH-Related 46,XY complete gonadal dysgenesis; GONADAL DYSGENESIS, XY, MALE-LIMITED
 
Gene (location): DHH (12q13.12)
 
Monarch Initiative: MONDO:0009301
OMIM®: 233420

Authors:
Lauren Mohnach  |  Patricia Y Fechner  |  Catherine E Keegan   view full author information

Clinical features

From HPO
Dysgerminoma
MedGen UID:
41680
Concept ID:
C0013377
Neoplastic Process
The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary.
Gonadoblastoma
MedGen UID:
104912
Concept ID:
C0206661
Neoplastic Process
The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.
Gonadal dysgenesis, male
MedGen UID:
5361
Concept ID:
C0018054
Disease or Syndrome
Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation.
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
Streak ovary
MedGen UID:
78597
Concept ID:
C0266371
Congenital Abnormality
A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.
Uterine hypoplasia
MedGen UID:
120575
Concept ID:
C0266399
Congenital Abnormality
Underdevelopment of the uterus.
Hypoplasia of the fallopian tube
MedGen UID:
409653
Concept ID:
C1968706
Finding
Developmental hypoplasia of the fallopian tube.
Sex reversal
MedGen UID:
868596
Concept ID:
C4022995
Finding
Development of the reproductive system is inconsistent with the chromosomal sex.
Abnormal epididymis morphology
MedGen UID:
869792
Concept ID:
C4024222
Anatomical Abnormality
An abnormality of the epididymis.

Recent clinical studies

Etiology

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
Zhou C, Fu JJ, Li LY, Lu GX
Yi Chuan Xue Bao 2005 May;32(5):443-9. PMID: 16018252
Shahid M, Dhillion VS, Jain N, Hedau S, Diwakar S, Sachdeva P, Batra S, Das BC, Husain SA
Mol Hum Reprod 2004 Jul;10(7):521-6. Epub 2004 May 21 doi: 10.1093/molehr/gah071. PMID: 15155818
Telvi L, Lebbar A, Del Pino O, Barbet JP, Chaussain JL
Pediatrics 1999 Aug;104(2 Pt 1):304-8. doi: 10.1542/peds.104.2.304. PMID: 10429013
Bradley SJ, Oliver GD, Chernick AB, Zucker KJ
Pediatrics 1998 Jul;102(1):e9. doi: 10.1542/peds.102.1.e9. PMID: 9651461

Diagnosis

Bakhshalizadeh S, Afkhami F, Bell KM, Robevska G, van den Bergen J, Cronin S, Jaillard S, Ayers KL, Kumar P, Siebold C, Xiao Z, Tate EW, Danaei S, Farzadi L, Shahbazi S, Sinclair AH, Tucker EJ
Mol Cell Endocrinol 2024 Jun 1;587:112212. Epub 2024 Mar 22 doi: 10.1016/j.mce.2024.112212. PMID: 38521400
García-Acero M, Molina M, Moreno O, Ramirez A, Forero C, Céspedes C, Prieto JC, Pérez J, Suárez-Obando F, Rojas A
Mol Biol Rep 2019 Jun;46(3):2971-2978. Epub 2019 Mar 16 doi: 10.1007/s11033-019-04758-y. PMID: 30879272
Saranya B, Bhavani G, Arumugam B, Jayashankar M, Santhiya ST
J Genet 2016 Dec;95(4):911-921. doi: 10.1007/s12041-016-0716-0. PMID: 27994190
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
Telvi L, Lebbar A, Del Pino O, Barbet JP, Chaussain JL
Pediatrics 1999 Aug;104(2 Pt 1):304-8. doi: 10.1542/peds.104.2.304. PMID: 10429013

Therapy

Jordan BK, Jain M, Natarajan S, Frasier SD, Vilain E
J Clin Endocrinol Metab 2002 Jul;87(7):3428-32. doi: 10.1210/jcem.87.7.8646. PMID: 12107262
Bradley SJ, Oliver GD, Chernick AB, Zucker KJ
Pediatrics 1998 Jul;102(1):e9. doi: 10.1542/peds.102.1.e9. PMID: 9651461

Prognosis

Faridi R, Yousaf R, Inagaki S, Olszewski R, Gu S, Morell RJ, Wilson E, Xia Y, Qaiser TA, Rashid M, Fenollar-Ferrer C, Hoa M, Riazuddin S, Friedman TB
Genes (Basel) 2024 Jun 27;15(7) doi: 10.3390/genes15070845. PMID: 39062623Free PMC Article
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

Saranya B, Bhavani G, Arumugam B, Jayashankar M, Santhiya ST
J Genet 2016 Dec;95(4):911-921. doi: 10.1007/s12041-016-0716-0. PMID: 27994190
Velagaleti GV, Bien-Willner GA, Northup JK, Lockhart LH, Hawkins JC, Jalal SM, Withers M, Lupski JR, Stankiewicz P
Am J Hum Genet 2005 Apr;76(4):652-62. Epub 2005 Feb 22 doi: 10.1086/429252. PMID: 15726498Free PMC Article
Shahid M, Dhillion VS, Jain N, Hedau S, Diwakar S, Sachdeva P, Batra S, Das BC, Husain SA
Mol Hum Reprod 2004 Jul;10(7):521-6. Epub 2004 May 21 doi: 10.1093/molehr/gah071. PMID: 15155818
McDonald MT, Flejter W, Sheldon S, Putzi MJ, Gorski JL
Am J Med Genet 1997 Dec 19;73(3):321-6. PMID: 9415692
Bardoni B, Zanaria E, Guioli S, Floridia G, Worley KC, Tonini G, Ferrante E, Chiumello G, McCabe ER, Fraccaro M
Nat Genet 1994 Aug;7(4):497-501. doi: 10.1038/ng0894-497. PMID: 7951319

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