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46,XY sex reversal 6(SRXY6)

MedGen UID:
462414
Concept ID:
C3151064
Disease or Syndrome
Synonyms: 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, MAP3K1-RELATED; 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, MAP3K1-RELATED
 
Gene (location): MAP3K1 (5q11.2)
 
Monarch Initiative: MONDO:0013410
OMIM®: 613762

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
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.
Clitoral hypertrophy
MedGen UID:
57848
Concept ID:
C0156394
Finding
Hypertrophy of the clitoris.
Chordee
MedGen UID:
66363
Concept ID:
C0221182
Congenital Abnormality
Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees.
Hypospadias
MedGen UID:
163083
Concept ID:
C0848558
Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Sex reversal
MedGen UID:
868596
Concept ID:
C4022995
Finding
Development of the reproductive system is inconsistent with the chromosomal sex.
Hirsutism
MedGen UID:
42461
Concept ID:
C0019572
Disease or Syndrome
Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
Sparse axillary hair
MedGen UID:
348975
Concept ID:
C1858574
Finding
Reduced number or density of axillary hair.

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
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J Pediatr Endocrinol Metab 2005 Jun;18(6):569-75. doi: 10.1515/jpem.2005.18.6.569. PMID: 16042324

Recent clinical studies

Etiology

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
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Diagnosis

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
Antwi P, Hong CS, Duran D, Jin SC, Dong W, DiLuna M, Kahle KT
Cold Spring Harb Mol Case Stud 2018 Jun;4(3) Epub 2018 Jun 1 doi: 10.1101/mcs.a002766. PMID: 29695406Free PMC Article
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Horm Res Paediatr 2018;89(6):450-454. Epub 2017 Nov 17 doi: 10.1159/000481776. PMID: 29151085
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Mol Hum Reprod 2011 Jun;17(6):372-8. Epub 2011 Jan 17 doi: 10.1093/molehr/gar002. PMID: 21242195

Therapy

Gaspari L, Paris F, Philibert P, Audran F, Orsini M, Servant N, Maïmoun L, Kalfa N, Sultan C
Eur J Endocrinol 2011 Oct;165(4):579-87. Epub 2011 Jul 25 doi: 10.1530/EJE-11-0580. PMID: 21788424
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
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Clinical prediction guides

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
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J Genet 2016 Dec;95(4):911-921. doi: 10.1007/s12041-016-0716-0. PMID: 27994190
Joshi R, Das D, Tamhankar P, Shaikh S
Indian Pediatr 2014 May;51(5):399-400. PMID: 24953586
Das DK, Sanghavi D, Gawde H, Idicula-Thomas S, Vasudevan L
Eur J Med Genet 2011 Nov-Dec;54(6):e529-34. Epub 2011 Jul 23 doi: 10.1016/j.ejmg.2011.04.010. PMID: 21816240
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