MCID: 46X003
MIFTS: 47

46,xx Testicular Disorder of Sex Development malady

Categories: Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for 46,xx Testicular Disorder of Sex Development

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Sources:
24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for 46,xx Testicular Disorder of Sex Development:

Name: 46,xx Testicular Disorder of Sex Development 48 24 25 54 27
46,xx Testicular Dsd 48 24 54
Xx Male Syndrome 48 24 25
46,xx Gonadal Dysgenesis 48 54
Xx Sex Reversal 48 25
Follicular Stimulating Hormone-Resistant Ovaries 54
46, Xx Testicular Disorders of Sex Development 68
Xx Testicular Disorder of Sex Development 24
Hypergonadotropic Ovarian Dysgenesis 54
46,xx Complete Gonadal Dysgenesis 54
 
46,xx Pure Gonadal Dysgenesis 54
Xx Female Gonadal Dysgenesis 54
46, Xx Gonadal Sex Reversal 48
46,xx Ovarian Dysgenesis 54
De La Chapelle Syndrome 54
46,xx Male Syndrome 24
46,xx Sex Reversal 25
Xx, Male Syndrome 54
Fsh-Ro 54
Xx-Gd 54

Characteristics:

Orphanet epidemiological data:

54
46,xx gonadal dysgenesis:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult; Age of death: normal life expectancy
46,xx testicular disorder of sex development:
Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet54 ORPHA243, ORPHA393
MESH via Orphanet40 D023961, D058531
ICD10 via Orphanet31 Q99.1
UMLS via Orphanet69 C0685837, C0949595, C0432475 C2936419, more

Summaries for 46,xx Testicular Disorder of Sex Development

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NIH Rare Diseases:48 46,XX testicular disorder of sex development is a condition in which a person with two X chromosomes (which is normally found in females) has a male appearance. More specifically, people with this condition have male external genitalia, ranging from normal to ambiguous. Other common signs and symptoms include small testes, gynecomastia, infertility due to azoospermia (lack of sperm), and health problems related to low testosterone. Less often, affected people may experience abnormalities such as undescended testes and hypospadias. Gender role and gender identity are normally reported as male. This condition may occur if the SRY gene (which is usually found on the Y chromosome) is misplaced onto the X chromosome. This generally occurs to do an abnormal exchange of genetic material between chromosomes (a translocation). Less commonly, the condition may be due to copy number variants or rearrangements in or around the SOX9 or SOX3 gene. In some affected people, the underlying cause is unknown. In most cases, the condition occurs sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person and generally includes testosterone replacement therapy. Last updated: 11/3/2015

MalaCards based summary: 46,xx Testicular Disorder of Sex Development, also known as 46,xx testicular dsd, is related to sry-negative 46,xx testicular disorder of sex development and sry-positive 46,xx testicular disorder of sex development, and has symptoms including decreased fertility, polycystic ovaries and primary amenorrhea. An important gene associated with 46,xx Testicular Disorder of Sex Development is SRY (Sex Determining Region Y), and among its related pathways are Deactivation of the beta-catenin transactivating complex and Ovarian Infertility Genes. Affiliated tissues include ovary, testes and testis, and related mouse phenotypes are endocrine/exocrine gland and reproductive system.

Genetics Home Reference:25 46,XX testicular disorder of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern normally found in females, have a male appearance. People with this disorder have male external genitalia. They generally have small testes and may also have abnormalities such as undescended testes (cryptorchidism) or the urethra opening on the underside of the penis (hypospadias). A small number of affected people have external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Affected children are typically raised as males and have a male gender identity.

Related Diseases for 46,xx Testicular Disorder of Sex Development

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Diseases related to 46,xx Testicular Disorder of Sex Development via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1sry-negative 46,xx testicular disorder of sex development12.5
2sry-positive 46,xx testicular disorder of sex development12.5
3nonsyndromic 46,xx testicular disorders of sex development12.3
446,xx gonadal dysgenesis epibulbar dermoid12.1
5palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal11.3
6serkal syndrome11.3
746xx sex reversal 111.3
8ovarian dysgenesis 111.2
9ovarian dysgenesis 411.1
10spermatogenic failure, y-linked, 110.4SOX9, SRY
11farmer's lung10.3SOX9, SRY
12uremia10.2BMP15, SRY
13prostate adenocarcinoma10.2SOX9, SRY
14agenesis and aplasia of uterine body10.2BMP15, PSMC3IP
15leukorrhea10.2SOX9, SRY
16hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation10.2SOX9, SRY
17tetraamelia with pulmonary hypoplasia10.2NR5A1, SRY
18abca1-related disorders10.1NR5A1, SRY
19alveolar soft-part sarcoma10.1SOX9, SRY
20premature ovarian failure 310.0BMP15, NR5A1
21hidradenitis10.0NR5A1, SRY
22hypospadias 1, x-linked9.9NR5A1, SRY
23drug-induced vasculitis9.8NR5A1, SOX9, SRY
24meacham syndrome9.8NR5A1, SOX9, SRY
25tooth disease9.8NR5A1, SOX9, SRY
26cryptorchidism9.8
27gonadal dysgenesis9.8
2846 xy gonadal dysgenesis9.8
29adrenoleukodystrophy9.8BMP15, FSHR
30hyperbiliverdinemia9.7NR5A1, SOX9, SRY
31azoospermia9.7
32pleural empyema9.7BMP15, FSHR
33alternating hemiplegia of childhood9.6NR5A1, SRY
34adult brainstem gliosarcoma9.6FSHR, SRY
35candidiasis9.6BMP15, FSHR, SRY
36pseudopterygium9.5BMP15, FSHR
3746 xx gonadal dysgenesis9.5NR5A1, SOX3, SOX9, SRY
38multiple synostoses syndrome9.4BMP15, NR5A1, SOX9, SRY
39lateral sclerosis9.3BMP15, FSHR, NR5A1
40mental retardation, x-linked 1019.3BMP15, FSHR, NR5A1
41benign paroxysmal positional nystagmus9.1BMP15, FSHR, NR5A1, SRY
42mixed gonadal dysgenesis8.3BMP15, FSHR, NR5A1, PSMC3IP, SOX9, SRY
4348,xxxy syndrome7.2BMP15, FSHR, NR5A1, NUP107, PSMC3IP, ROCK1

Graphical network of the top 20 diseases related to 46,xx Testicular Disorder of Sex Development:



Diseases related to 46,xx testicular disorder of sex development

Symptoms & Phenotypes for 46,xx Testicular Disorder of Sex Development

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Human phenotypes related to 46,xx Testicular Disorder of Sex Development:

 64 54 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased fertility64 54 hallmark (90%) Very frequent (99-80%) HP:0000144
2 polycystic ovaries64 54 hallmark (90%) Very frequent (99-80%) HP:0000147
3 primary amenorrhea64 54 hallmark (90%) Very frequent (99-80%) HP:0000786
4 abnormality of the testis64 hallmark (90%) HP:0000035
5 ambiguous genitalia64 54 hallmark (90%) Excluded (0%) HP:0000062
6 reduced bone mineral density64 54 typical (50%) Frequent (79-30%) HP:0004349
7 microcephaly64 54 occasional (7.5%) Very rare (<4-1%) HP:0000252
8 hearing impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000365
9 secondary amenorrhea64 54 occasional (7.5%) Occasional (29-5%) HP:0000869
10 arachnodactyly64 54 occasional (7.5%) Very rare (<4-1%) HP:0001166
11 abnormality of metabolism/homeostasis64 54 occasional (7.5%) Occasional (29-5%) HP:0001939
12 pulmonary fibrosis64 54 occasional (7.5%) Very rare (<4-1%) HP:0002206
13 incoordination64 occasional (7.5%) HP:0002311
14 short stature64 54 occasional (7.5%) Occasional (29-5%) HP:0004322
15 gonadal dysgenesis54 Obligate (100%)
16 premature ovarian failure54 Obligate (100%)
17 delayed puberty54 Very frequent (99-80%)
18 gonadotropin excess54 Very frequent (99-80%)
19 decreased serum estradiol54 Very frequent (99-80%)
20 abnormality of secondary sexual hair54 Very frequent (99-80%)
21 osteopenia54 Frequent (79-30%)
22 sparse pubic hair54 Frequent (79-30%)
23 delayed skeletal maturation54 Frequent (79-30%)
24 osteoporosis of vertebrae54 Frequent (79-30%)
25 aplasia/hypoplasia of the uterus54 Frequent (79-30%)
26 aplasia/hypoplasia of the breasts54 Frequent (79-30%)
27 streak ovary54 Frequent (79-30%)
28 ataxia54 Very rare (<4-1%)
29 male hypogonadism54 Very frequent (99-80%)
30 decreased testicular size54 Very frequent (99-80%)

MGI Mouse Phenotypes related to 46,xx Testicular Disorder of Sex Development according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.1BMP15, FSHR, NR5A1, PSMC3IP, SOX3, SOX9
2MP:00053897.4BMP15, FSHR, NR5A1, PSMC3IP, SOX3, SOX9

Drugs & Therapeutics for 46,xx Testicular Disorder of Sex Development

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Drugs for 46,xx Testicular Disorder of Sex Development (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Epinephrineapproved, vet_approved93351-43-45816
Synonyms:
(-)-(R)-Epinephrine
(-)-3,4-Dihydroxy-a-[2-(methylamino)ethyl]benzyl alcohol
(-)-3,4-Dihydroxy-alpha-((methylamino)methyl)benzyl alcohol
(-)-3,4-Dihydroxy-alpha-[2-(methylamino)ethyl]benzyl alcohol
(-)-3,4-dihydroxy-a-[(methylamino)methyl]-Benzyl alcohol
(-)-3,4-dihydroxy-alpha-[(methylamino)methyl]-Benzyl alcohol
(-)-Adrenalin
(-)-Adrenaline
(-)-Epinephrine
(-)-R-Epinephrine
(R)-(-)-Adnephrine
(R)-(-)-Adrenaline
(R)-(-)-Epinephrine
(R)-(-)-Epirenamine
(R)-(−)-adrenaline
(R)-4-[1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol
(R)-4-[1-hydroxy-2-(methylamino)ethyl]-1,2-Benzenediol
(R)-Adrenaline
(R)-Epinephrine
(−)-adrenaline
02252_FLUKA
1-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
1-Adrenalin
1-Epinephrine
4-(1-Hydroxy-2-(methylamino)ethyl)-1,2-benzenediol
4-(1-hydroxy-2-methylamino-ethyl)benzene-1,2-diol
4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-Benzenediol
4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol
4-[(1R)-1-hydroxy-2-(methylamino)ethyl]benzene-1,2-diol
51-43-4
51-43-4 (FREE BASE)
51028-73-0
A0173
AC-13188
AC1L1L7B
ADR ADRENALINE
ADROP
AI3-19015
Adnephrine
Adrenal
Adrenalin
Adrenalin (TN)
Adrenalin in Oil
Adrenalin-Medihaler
Adrenalina
Adrenalina [DCIT]
Adrenaline
Adrenaline (JP15)
Adrenaline/Epinephrine
Adrenalinum
Adrenamine
Adrenan
Adrenapax
Adrenasol
Adrenatrate
Adrenine
Adrenodis
Adrenohorma
Adrenosan
Adrenutol
Adrin
Adrine
Ana-Guard
Ana-Kit
Antiasthmatique
Asmatane Mist
Asthma meter mist
Asthma-nefrin
Asthmahaler Mist
Asthmanefrin
Astmahalin
Astminhal
BIDD:GT0119
Balmadren
Bernarenin
Biorenine
Bosmin
Brevirenin
Bronkaid
Bronkaid Mist
Bronkaid Suspension Mist
Bupivacaine Hcl and Epinephrine
C00788
CCRIS 4812
CHEBI:28918
CHEMBL679
CID5816
Chelafrin
Citanest Forte
Corisol
D-Epifrin
D-Epinephrine
D00095
DB00668
Drenamist
Dylephrin
Dyspne-Inhal
E4250_SIGMA
EINECS 200-098-7
EPI E Z PEN JR
EPIPEN E Z PEN
EPIPEN JR
Epi EZ Pen Jr
Epifrin
Epiglaufrin
Epinefrin
Epinefrin [Czech]
Epinefrina
Epinefrina [INN-Spanish]
Epinephran
Epinephrin
Epinephrine
Epinephrine (USP)
Epinephrine (USP/INN)
Epinephrine [USAN:INN:JAN]
Epinephrine hydrochloride
Epinephrinum
Epinephrinum [INN-Latin]
Epipen
Epipen (TN)
Epipen Auto-Injector
Epipen EZ Pen
Epipen Jr.
Epipen Jr. Auto-Injector
Epirenamine
Epirenan
Epirenin
Epitrate
Eppy
Esphygmogenina
Exadrin
 
Glaucon
Glaucosan
Glauposine
Glycirenan
HSCI1_000215
HSDB 4289
Haemostasin
Haemostatin
Hektalin
Hemisine
Hemostasin
Hemostatin
Hypernephrin
Hyporenin
IOP
Intranefrin
Iontocaine
Isoptoepinal
Kidoline
L-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
L-Adrenaline
L-Adrenaline Base
L-Epinehphrine
L-Epinephrine
L-Epirenamine
L-Methylaminoethanolcatechol
L-epinephrine
LS-156
Levo-Methylaminoethanolcatechol
Levoadrenaline
Levoepinephrine
Levorenen
Levorenin
Levorenine
Levoreninum
Lopac-E-4642
Lyodrin
Lyophrin
Medihaler-Epi
Metanephrin
Methylaminoethanolcatechol
Methylarterenol
Micronefrin
Micronephrine
MolPort-002-051-368
Mucidrina
Myosthenine
Mytrate
NCGC00015417-01
NCGC00142615-01
NCGC00142615-03
NCGC00142615-04
NCGC00142615-05
NCGC00142615-06
NCGC00142615-07
NSC 62786
NSC62786
Nephridine
Nieraline
PDSP1_001120
PDSP2_001104
Paranephrin
Primatene
Primatene Mist
R-(-)-Epinephrine
R-Adrenaline
RCRA waste no. P042
Racemic Epinephrine
Racepinephrine
Rcra waste number P042
Renagladin
Renaglandin
Renaglandulin
Renaleptine
Renalina
Renoform
Renostypricin
Renostypticin
Renostyptin
SMP1_000227
ST069368
SUS-PHRINE SULFITE-FREE
Scurenaline
Septocaine
Simplene
Sindrenina
Soladren
Sphygmogenin
Stryptirenal
Styptirenal
Supracapsulin
Supradin
Supranefran
Supranephrane
Supranephrine
Supranol
Suprarenaline
Suprarenin
Suprel
Surenine
Surrenine
Sus-Phrine
Sus-phrine
Susphrine
Sympathin I
Takamina
Takamine
Tokamina
Tonogen
Twinject
Twinject 0.15
Twinject 0.3
Twinject 0.30
UNII-YKH834O4BH
Vaponefrin
Vasoconstrictine
Vasoconstrictor
Vasodrine
Vasoton
Vasotonin
adrenaline
bmse000316
d-Adrenaline
epinephrine
l-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
l-Adrenalin
l-Adrenaline
l-Epinephine
l-Epinephrine (synthetic)
l-Epirenamine
l-Methylaminoethanolcatechol
levoepinephrine
nchembio747-comp9
2Hormones, Hormone Substitutes, and Hormone Antagonists12767
3Racepinephrine933
4Hormones13979
5Hormone Antagonists12778
6Epinephryl borate933
7Androgens1275

Interventional clinical trials:

idNameStatusNCT IDPhase
1Natural History Study of Patients With Excess AndrogenEnrolling by invitationNCT00250159

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Genetic Tests for 46,xx Testicular Disorder of Sex Development

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Genetic tests related to 46,xx Testicular Disorder of Sex Development:

id Genetic test Affiliating Genes
1 46,xx Testicular Disorder of Sex Development27 24 SRY

Anatomical Context for 46,xx Testicular Disorder of Sex Development

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MalaCards organs/tissues related to 46,xx Testicular Disorder of Sex Development:

36
Ovary, Testes, Testis, Uterus, Bone, Breast

Publications for 46,xx Testicular Disorder of Sex Development

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Articles related to 46,xx Testicular Disorder of Sex Development:

idTitleAuthorsYear
1
A duplication upstream of SOX9 was not positively correlated with the SRYa89negative 46,XX testicular disorder of sex development: A case report and literature review. (26260363)
2015
2
A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication. (25077096)
2014
3
Gene expression profile during testicular development in patients With SRY-negative 46,XX testicular disorder of sex development. (24149105)
2013
4
Two males with SRY-positive 46,XX testicular disorder of sex development. (23110663)
2013
5
De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development. (20082466)
2010
6
46,XX Testicular Disorder of Sex Development (20301589)
1993

Variations for 46,xx Testicular Disorder of Sex Development

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Expression for genes affiliated with 46,xx Testicular Disorder of Sex Development

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Search GEO for disease gene expression data for 46,xx Testicular Disorder of Sex Development.

Pathways for genes affiliated with 46,xx Testicular Disorder of Sex Development

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Pathways related to 46,xx Testicular Disorder of Sex Development according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.4SOX3, SOX9, SRY
29.3FSHR, NR5A1
39.0BMP15, FSHR
4
Show member pathways
8.9FSHR, ROCK1, SOX9

GO Terms for genes affiliated with 46,xx Testicular Disorder of Sex Development

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Cellular components related to 46,xx Testicular Disorder of Sex Development according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear transcription factor complexGO:00447989.7SOX9, SRY

Biological processes related to 46,xx Testicular Disorder of Sex Development according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1male sex determinationGO:003023810.4SOX9, SRY
2positive regulation of phosphatidylinositol 3-kinase signalingGO:001406810.1FSHR, SOX9
3female gonad developmentGO:000858510.0FSHR, NR5A1
4hormone-mediated signaling pathwayGO:000975510.0FSHR, NR5A1
5regulation of cell adhesionGO:003015510.0ROCK1, SOX9
6positive regulation of male gonad developmentGO:20000209.9NR5A1, SOX9, SRY
7female gamete generationGO:00072929.7BMP15, FSHR
8Sertoli cell developmentGO:00600099.4FSHR, SOX9
9male gonad developmentGO:00085849.3FSHR, NR5A1, SOX9, SRY
10regulation of MAPK cascadeGO:00434089.3BMP15, FSHR
11positive regulation of transcription, DNA-templatedGO:00458938.9BMP15, NR5A1, SOX9, SRY

Molecular functions related to 46,xx Testicular Disorder of Sex Development according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00037059.7NR5A1, SOX9, SRY
2transcription regulatory region sequence-specific DNA bindingGO:00009769.5NR5A1, SOX9
3DNA bindingGO:00036779.0NR5A1, PSMC3IP, SOX3, SOX9, SRY

Sources for 46,xx Testicular Disorder of Sex Development

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet