XX-GD
MCID: 46X003
MIFTS: 48

46,xx Testicular Disorder of Sex Development (XX-GD) malady

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

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

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

Name: 46,xx Testicular Disorder of Sex Development 50 24 25 56 29
46,xx Testicular Dsd 50 24 56
Xx Male Syndrome 50 24 25
46,xx Gonadal Dysgenesis 50 56
Xx Sex Reversal 50 25
Follicular Stimulating Hormone-Resistant Ovaries 56
46, Xx Testicular Disorders of Sex Development 69
Xx Testicular Disorder of Sex Development 24
Hypergonadotropic Ovarian Dysgenesis 56
46,xx Complete Gonadal Dysgenesis 56
46,xx Pure Gonadal Dysgenesis 56
Xx Female Gonadal Dysgenesis 56
46, Xx Gonadal Sex Reversal 50
46,xx Ovarian Dysgenesis 56
De La Chapelle Syndrome 56
46,xx Male Syndrome 24
46,xx Sex Reversal 25
Xx, Male Syndrome 56
Fsh-Ro 56
Xx-Gd 56

Characteristics:

Orphanet epidemiological data:

56
46,xx testicular disorder of sex development
Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;
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;

Classifications:



External Ids:

Orphanet 56 ORPHA243 ORPHA393
MESH via Orphanet 43 D023961 D058531
ICD10 via Orphanet 34 Q99.1
UMLS via Orphanet 70 C0685837 C0949595 C0432475 more

Summaries for 46,xx Testicular Disorder of Sex Development

NIH Rare Diseases : 50 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-positive 46,xx testicular disorder of sex development and sry-negative 46,xx testicular disorder of sex development, and has symptoms including ataxia, osteopenia and hearing impairment. An important gene associated with 46,xx Testicular Disorder of Sex Development is SRY (Sex Determining Region Y), and among its related pathways/superpathways are cAMP signaling pathway and Ovarian steroidogenesis. The drugs Epinephrine and Androgens have been mentioned in the context of this disorder. Affiliated tissues include testes, ovary and bone, and related 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

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

(show all 44)
id Related Disease Score Top Affiliating Genes
1 sry-positive 46,xx testicular disorder of sex development 12.4
2 sry-negative 46,xx testicular disorder of sex development 12.4
3 nonsyndromic 46,xx testicular disorders of sex development 12.3
4 46,xx gonadal dysgenesis epibulbar dermoid 12.1
5 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal 11.3
6 serkal syndrome 11.3
7 46xx sex reversal 1 11.3
8 ovarian dysgenesis 1 11.1
9 ovarian dysgenesis 4 11.1
10 spermatogenic failure, y-linked, 1 10.2 SOX9 SRY
11 brucella melitensis brucellosis 10.2 SOX9 SRY
12 intraventricular meningioma 10.2 SOX9 SRY
13 orofaciodigital syndrome x 10.1 SOX9 SRY
14 intramuscular hemangioma 10.1 BMP15 SRY
15 splenic disease 10.1 SOX9 SRY
16 alveolar soft-part sarcoma 10.1 SOX9 SRY
17 antisynthetase syndrome 10.1 NR5A1 SRY
18 abl1 kd-related altered drug metabolism 10.1 NR5A1 SRY
19 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 10.1 BMP15 PSMC3IP
20 combined oxidative phosphorylation deficiency 5 10.0 BMP15 NR5A1
21 hypospadias 1, x-linked 10.0 NR5A1 SRY
22 autosomal dominant optic atrophy and late-onset deafness 10.0 NR5A1 SOX9 SRY
23 deafness, autosomal recessive 51 10.0 NR5A1 SOX9 SRY
24 benign essential hypertension 10.0 NR5A1 SOX9 SRY
25 adrenoleukodystrophy 9.9 BMP15 FSHR
26 cerebral cavernous malformations-2 9.9 NR5A1 SOX9 SRY
27 adenosquamous cell lung carcinoma 9.9 FSHR SRY
28 deafness, autosomal dominant 7 9.9 NR5A1 SRY
29 farmer's lung 9.8 NR5A1 SOX3 SOX9 SRY
30 capillary lymphangioma 9.8 FSHR NR5A1 SRY
31 epidural spinal canal meningioma 9.8 BMP15 FSHR
32 cone dystrophy 9.8 BMP15 NR5A1 SOX9 SRY
33 benign perivascular tumor 9.8 FSHR NR5A1 SRY
34 cryptorchidism 9.8
35 gonadal dysgenesis 9.8
36 46 xy gonadal dysgenesis 9.8
37 squamous cell carcinoma 9.8
38 spondylolysis 9.7 BMP15 FSHR NR5A1
39 mental retardation, x-linked 101 9.7 BMP15 FSHR NR5A1
40 azoospermia 9.7
41 acute gonococcal salpingitis 9.6 BMP15 FSHR NR5A1 SRY
42 avoidant personality disorder 9.6 BMP15 FSHR NR5A1 SRY
43 46 xx gonadal dysgenesis 9.3 BMP15 FSHR NR5A1 PSMC3IP SOX9 SRY
44 8p23.1 duplication syndrome 8.8 BMP15 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

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

56 32 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Very rare (<4-1%) HP:0001251
2 osteopenia 56 32 Frequent (79-30%) HP:0000938
3 hearing impairment 56 32 Occasional (29-5%) HP:0000365
4 delayed skeletal maturation 56 32 Frequent (79-30%) HP:0002750
5 microcephaly 56 32 Very rare (<4-1%) HP:0000252
6 short stature 56 32 Occasional (29-5%) HP:0004322
7 delayed puberty 56 32 Very frequent (99-80%) HP:0000823
8 pulmonary fibrosis 56 32 Very rare (<4-1%) HP:0002206
9 abnormality of metabolism/homeostasis 56 32 Occasional (29-5%) HP:0001939
10 increased circulating gonadotropin level 56 32 Very frequent (99-80%) HP:0000837
11 primary amenorrhea 56 32 Very frequent (99-80%) HP:0000786
12 secondary amenorrhea 56 32 Occasional (29-5%) HP:0000869
13 male hypogonadism 56 32 Very frequent (99-80%) HP:0000026
14 decreased testicular size 56 32 Very frequent (99-80%) HP:0008734
15 arachnodactyly 56 32 Very rare (<4-1%) HP:0001166
16 polycystic ovaries 56 32 Very frequent (99-80%) HP:0000147
17 decreased fertility 56 32 Very frequent (99-80%) HP:0000144
18 ambiguous genitalia 56 32 Excluded (0%),Very frequent (99-80%) HP:0000062
19 gonadal dysgenesis 56 32 Obligate (100%) HP:0000133
20 decreased serum estradiol 56 32 Very frequent (99-80%) HP:0008214
21 streak ovary 56 32 Frequent (79-30%) HP:0010464
22 premature ovarian failure 56 32 Obligate (100%) HP:0008209
23 sparse pubic hair 56 32 Frequent (79-30%) HP:0002225
24 osteoporosis of vertebrae 56 32 Frequent (79-30%) HP:0005625
25 aplasia/hypoplasia of the uterus 56 32 Frequent (79-30%) HP:0008684
26 aplasia/hypoplasia of the breasts 56 32 Frequent (79-30%) HP:0010311
27 reduced bone mineral density 56 Frequent (79-30%)
28 abnormality of secondary sexual hair 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to 46,xx Testicular Disorder of Sex Development:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.43 BMP15 FSHR NR5A1 PSMC3IP SOX3 SOX9
2 reproductive system MP:0005389 9.1 BMP15 FSHR NR5A1 PSMC3IP SOX3 SOX9

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

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

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved 51-43-4 5816
2 Androgens
3 Epinephryl borate
4 Hormone Antagonists
5 Hormones
6 Hormones, Hormone Substitutes, and Hormone Antagonists
7 Racepinephrine

Interventional clinical trials:


id Name Status NCT ID Phase
1 Natural History Study of Patients With Excess Androgen Enrolling by invitation NCT00250159

Search NIH Clinical Center for 46,xx Testicular Disorder of Sex Development

Genetic Tests for 46,xx Testicular Disorder of Sex Development

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

id Genetic test Affiliating Genes
1 46,xx Testicular Disorder of Sex Development 29 24 SRY

Anatomical Context for 46,xx Testicular Disorder of Sex Development

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

39
Testes, Ovary, Bone, Breast, Uterus

Publications for 46,xx Testicular Disorder of Sex Development

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

id Title Authors Year
1
Ten cases with 46,XX testicular disorder of sex development: single center experience. ( 28379671 )
2017
2
Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD). ( 25900885 )
2015
3
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
4
A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication. ( 25077096 )
2014
5
Two males with SRY-positive 46,XX testicular disorder of sex development. ( 23110663 )
2013
6
Gene expression profile during testicular development in patients With SRY-negative 46,XX testicular disorder of sex development. ( 24149105 )
2013
7
De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development. ( 20082466 )
2010
8
46,XX Testicular Disorder of Sex Development ( 20301589 )
1993

Variations for 46,xx Testicular Disorder of Sex Development

Expression for 46,xx Testicular Disorder of Sex Development

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

Pathways for 46,xx Testicular Disorder of Sex Development

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.44 FSHR ROCK1 SOX9
2 10.96 BMP15 FSHR
3 10.66 FSHR NR5A1
4 10.43 SOX3 SOX9 SRY

GO Terms for 46,xx Testicular Disorder of Sex Development

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

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.1 NR5A1 NUP107 PSMC3IP SOX3 SOX9 SRY

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.73 BMP15 NR5A1 SOX9 SRY
2 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.51 FSHR SOX9
3 male gonad development GO:0008584 9.5 FSHR NR5A1 SOX9
4 regulation of cell adhesion GO:0030155 9.49 ROCK1 SOX9
5 regulation of MAPK cascade GO:0043408 9.48 BMP15 FSHR
6 hormone-mediated signaling pathway GO:0009755 9.46 FSHR NR5A1
7 female gamete generation GO:0007292 9.4 BMP15 FSHR
8 male sex determination GO:0030238 9.37 SOX9 SRY
9 Sertoli cell development GO:0060009 9.26 FSHR SOX9
10 sex determination GO:0007530 9.16 NR5A1 SOX3
11 female gonad development GO:0008585 9.13 FSHR NR5A1 NUP107
12 positive regulation of male gonad development GO:2000020 8.8 NR5A1 SOX9 SRY

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 8.8 NR5A1 SOX9 SRY

Sources for 46,xx Testicular Disorder of Sex Development

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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