Details of Disease

Disease Name

46,XY disorder of sex development

46, XY disorders of sexual development; 46, XY DSD; 46, XY female; XY female; 46,XY DSD; 46,XY differences of Sex development; 46,XY disorders of Sex development

Definition

Differences of sex development in individuals with 46,XY karyotype.

Disease Hierarchy

DISRMAEZ: Disorder of sexual differentiation

DIS78CGG: 46,XY disorder of sex development

Disease Identifiers

MONDO ID

MONDO_0020040

MESH ID

D058490

UMLS CUI

C2751824

MedGen ID

414114

Orphanet ID

98085

SNOMED CT ID

880094008

General Information of Disease (ID: DIS78CGG)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CYP11A1	TTSYVO6	Strong	Genetic Variation	[1]
GART	TTEXB9Z	Strong	Biomarker	[2]
HSD17B13	TTDJYZR	Strong	Genetic Variation	[3]
LHCGR	TT2O4W9	Strong	Genetic Variation	[4]
MAP3K1	TTW8TJI	Strong	Genetic Variation	[5]
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This Disease Is Related to 3 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYB5A	DE9A2LB	moderate	Genetic Variation	[6]
AKR1C4	DEAJN47	Strong	Genetic Variation	[7]
HSD17B7	DEDMWFX	Strong	Genetic Variation	[3]
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This Disease Is Related to 13 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CBX2	OTOQ5WS4	moderate	Genetic Variation	[8]
EMX2	OT0V8OYK	moderate	Altered Expression	[8]
SAMD9	OTDG48P0	moderate	Genetic Variation	[9]
SF1	OTLEDM2S	moderate	Genetic Variation	[10]
SOX8	OTEJXYZM	moderate	Genetic Variation	[11]
TLX1	OTVN0MNW	moderate	Genetic Variation	[12]
DHRS11	OTU3J0ZL	Strong	Genetic Variation	[3]
DHX37	OTM1A5KP	Strong	Genetic Variation	[13]
MAMLD1	OT9EVMQY	Strong	Altered Expression	[14]
NR5A1	OTOULYR4	Strong	Genetic Variation	[15]
PAICS	OTMZN747	Strong	Biomarker	[2]
SRY	OT516T6D	Strong	Genetic Variation	[16]
SOX9	OTVDJFGN	Definitive	Genetic Variation	[17]
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⏷ Show the Full List of 13 DOT(s)

References

1	Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc. J Clin Endocrinol Metab. 2008 Mar;93(3):696-702. doi: 10.1210/jc.2007-2330. Epub 2008 Jan 8.
2	Comparison between two inhibin B ELISA assays in 46,XY testicular disorders of sex development (DSD) with normal testosterone secretion.J Pediatr Endocrinol Metab. 2018 Jan 26;31(2):191-194. doi: 10.1515/jpem-2017-0351.
3	Biochemical analyses and molecular modeling explain the functional loss of 17-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development.J Steroid Biochem Mol Biol. 2016 Jan;155(Pt A):147-54. doi: 10.1016/j.jsbmb.2015.10.023. Epub 2015 Nov 3.
4	Novel homozygous nonsense mutations in LHCGR lead to empty follicle syndrome and 46, XY disorder of sex development.Hum Reprod. 2018 Jul 1;33(7):1364-1369. doi: 10.1093/humrep/dey215.
5	Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.Hum Mol Genet. 2019 May 15;28(10):1620-1628. doi: 10.1093/hmg/ddz002.
6	A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency.J Clin Endocrinol Metab. 2012 Mar;97(3):E465-75. doi: 10.1210/jc.2011-2413. Epub 2011 Dec 14.
7	Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. Am J Hum Genet. 2011 Aug 12;89(2):201-18. doi: 10.1016/j.ajhg.2011.06.009. Epub 2011 Jul 28.
8	Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development.Mol Genet Genomic Med. 2018 Sep;6(5):785-795. doi: 10.1002/mgg3.445. Epub 2018 Jul 11.
9	MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency.PLoS One. 2018 Nov 7;13(11):e0206184. doi: 10.1371/journal.pone.0206184. eCollection 2018.
10	Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects.Horm Res Paediatr. 2011;75(1):70-7. doi: 10.1159/000320029. Epub 2010 Sep 22.
11	Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.Hum Mol Genet. 2018 Apr 1;27(7):1228-1240. doi: 10.1093/hmg/ddy037.
12	Testicular differentiation factor SF-1 is required for human spleen development.J Clin Invest. 2014 May;124(5):2071-5. doi: 10.1172/JCI73186. Epub 2014 Apr 8.
13	Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome. Genet Med. 2020 Jan;22(1):150-159. doi: 10.1038/s41436-019-0606-y. Epub 2019 Jul 24.
14	NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. Genet Med. 2017 Apr;19(4):367-376. doi: 10.1038/gim.2016.118. Epub 2016 Aug 4.
15	The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development.Mol Biol Rep. 2019 Oct;46(5):5595-5601. doi: 10.1007/s11033-019-04980-8. Epub 2019 Jul 23.
16	Maternal uniparental disomy for chromosome 6 in a patient with IUGR, ambiguous genitalia, and persistent mullerian structures.Am J Med Genet A. 2016 Dec;170(12):3227-3230. doi: 10.1002/ajmg.a.37876. Epub 2016 Aug 8.
17	Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9.Nat Commun. 2018 Dec 14;9(1):5319. doi: 10.1038/s41467-018-07784-9.