TRE
MCID: TST033
MIFTS: 32

Testicular Regression Syndrome (TRE)

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

Aliases & Classifications for Testicular Regression Syndrome

MalaCards integrated aliases for Testicular Regression Syndrome:

Name: Testicular Regression Syndrome 58 60 56 74
Xy Gonadal Agenesis Syndrome 58 60
Trs 58 60
Embryonic Testicular Regression Syndrome 60
Testicular Regression, Embryonic 58
Vanishing Testes Syndrome 60
Vanishing Testis Syndrome 60
Anorchia, Familial 58
Etrs 60
Tre 77

Characteristics:

Orphanet epidemiological data:

60
testicular regression syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive with sex limitation


Classifications:



External Ids:

OMIM 58 273250
MESH via Orphanet 46 C537770
ICD10 via Orphanet 35 Q55.0
UMLS via Orphanet 75 C0266427 C0405582 C1261504
Orphanet 60 ORPHA983
MedGen 43 C0266427
UMLS 74 C0266427

Summaries for Testicular Regression Syndrome

OMIM : 58 The testicular regression syndrome (TRS) was delineated by Sarto and Opitz (1973), who called it the XY gonadal dysgenesis syndrome. It is characterized primarily by the absence of gonads in an XY person. In most cases, uterus and fallopian tubes are absent but small tubular structures interpreted as mullerian or wolffian rudiments (or both) are present. The range of virilizing effects due to early testicular tissue extends from none in phenotypic females with only slightly hypoplastic normal external genitalia, well-formed but hypoplastic uterus, and well-formed tubes (De Marchi et al., 1981) to the anorchic phenotypic male (Edman et al., 1977). Most affected individuals lack a vagina but a urogenital sinus or pseudovaginal urethral outpouching is found. Partial labioscrotal fusion and clitoris enlargement are common, breast development is absent, and postpubertal eunuchoid habitus is the rule. Sometimes nongenital anomalies are present (summary by Rosenberg et al., 1984). (273250)

MalaCards based summary : Testicular Regression Syndrome, also known as xy gonadal agenesis syndrome, is related to atrial fibrillation and spastic paraplegia 20, autosomal recessive. An important gene associated with Testicular Regression Syndrome is SRY (Sex Determining Region Y). Affiliated tissues include testis, testes and uterus, and related phenotypes are decreased testicular size and decreased fertility

Wikipedia : 77 The killdeer (Charadrius vociferus) is a large plover found in the Americas. It was described and given... more...

Related Diseases for Testicular Regression Syndrome

Diseases related to Testicular Regression Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 108)
# Related Disease Score Top Affiliating Genes
1 atrial fibrillation 11.2
2 spastic paraplegia 20, autosomal recessive 11.1
3 swine influenza 11.1
4 somatization disorder 11.1
5 personality disorder 10.3
6 cerebellar degeneration 10.2
7 paraneoplastic cerebellar degeneration 10.2
8 autism 10.2
9 eating disorder 10.2
10 gonadal agenesis 10.1
11 scleroderma, familial progressive 10.1
12 cholera 10.1
13 autism spectrum disorder 10.1
14 retinoblastoma 10.1
15 schizophrenia 10.1
16 premature ejaculation 10.1
17 lymphoma 10.0
18 post-traumatic stress disorder 10.0
19 pheochromocytoma 10.0
20 human immunodeficiency virus type 1 10.0
21 dengue hemorrhagic fever 10.0
22 salmonellosis 10.0
23 obstructive nephropathy 10.0
24 biliary atresia 10.0
25 squamous cell papilloma 10.0
26 papilloma 10.0
27 xp22.3 microdeletion syndrome 10.0
28 gynecomastia 9.9
29 kaposi sarcoma 9.9
30 thyroid hormone resistance, generalized, autosomal dominant 9.9
31 lymphoma, hodgkin, classic 9.9
32 paine syndrome 9.9
33 caronte 9.9
34 aceruloplasminemia 9.9
35 major depressive disorder 9.9
36 congestive heart failure 9.9
37 endocarditis 9.9
38 borderline personality disorder 9.9
39 sarcoma 9.9
40 aortic valve insufficiency 9.9
41 rere-related disorders 9.9
42 depression 9.9
43 osteoporosis 9.8
44 hypogonadism 9.8
45 testicular torsion 9.8
46 amenorrhea 9.8
47 anorchia 9.8
48 machado-joseph disease 9.8
49 leukemia, chronic lymphocytic 2 9.8
50 bladder cancer 9.8

Graphical network of the top 20 diseases related to Testicular Regression Syndrome:



Diseases related to Testicular Regression Syndrome

Symptoms & Phenotypes for Testicular Regression Syndrome

Human phenotypes related to Testicular Regression Syndrome:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased testicular size 60 33 hallmark (90%) Very frequent (99-80%) HP:0008734
2 decreased fertility 60 33 hallmark (90%) Very frequent (99-80%) HP:0000144
3 hypoplasia of penis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008736
4 male pseudohermaphroditism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000037
5 ambiguous genitalia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000062
6 abnormality of female internal genitalia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000008
7 absent testis 60 33 hallmark (90%) Very frequent (99-80%) HP:0010469
8 abnormality of male internal genitalia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000022
9 agonadism 33 hallmark (90%) HP:0008633
10 abnormality of the face 60 33 occasional (7.5%) Occasional (29-5%) HP:0000271
11 abnormal internal genitalia 33 HP:0000812
12 aplasia/hypoplasia of the testes 60 Very frequent (99-80%)
13 absent gonadal tissue 60 Very frequent (99-80%)
14 vanishing testis 33 HP:0012870

Symptoms via clinical synopsis from OMIM:

58
G U:
absent gonads

Lab:
46,xy chromosomes

Clinical features from OMIM:

273250

Drugs & Therapeutics for Testicular Regression Syndrome

Search Clinical Trials , NIH Clinical Center for Testicular Regression Syndrome

Genetic Tests for Testicular Regression Syndrome

Anatomical Context for Testicular Regression Syndrome

MalaCards organs/tissues related to Testicular Regression Syndrome:

42
Testis, Testes, Uterus

Publications for Testicular Regression Syndrome

Articles related to Testicular Regression Syndrome:

(show all 19)
# Title Authors Year
1
Presence of viable germ cells in testicular regression syndrome remnants: Is routine excision indicated? A systematic review. ( 29124402 )
2018
2
Re: Is Routine Excision of Testicular Remnants in Testicular Regression Syndrome Indicated? ( 27979565 )
2017
3
Re: Nataraja RM Asher CM, Nash R, Murphy FL. Is routine excision of testicular remnants in testicular regression syndrome indicated? J Pediatr Urol 2015;11:151.e1-5. ( 27567374 )
2016
4
Response to letter to the editor re 'Is routine excision of testicular remnants in testicular regression syndrome indicated?' ( 27570094 )
2016
5
Embryonic testicular regression syndrome presenting as primary amenorrhea: a case report and review of disorders of sexual development. ( 27079915 )
2016
6
Is routine excision of testicular remnants in testicular regression syndrome indicated? ( 25913475 )
2015
7
The testicular regression syndrome--do remnants require routine excision? ( 21292092 )
2011
8
Natural history of testicular regression syndrome and consequences for clinical management. ( 18947736 )
2007
9
Histopathological features of testicular regression syndrome: relation to patient age and implications for management. ( 16908461 )
2006
10
Testicular regression syndrome: a clinical and pathologic study of 11 cases. ( 10782149 )
2000
11
Embryonic testicular regression syndrome: a case report. ( 10443101 )
1999
12
A case of homosexual murder: a victim with testicular regression syndrome. ( 9436369 )
1997
13
Ante-natal testicular torsion: only one cause of the testicular regression syndrome? ( 8632401 )
1996
14
Testicular regression syndrome--a pathological study of 77 cases. ( 1916702 )
1991
15
Testicular regression syndrome. A case report. ( 1941794 )
1991
16
Embryonic testicular regression syndrome and severe mental retardation in sibs. ( 3879148 )
1985
17
Embryonic testicular regression syndrome: variable phenotypic expression in siblings. ( 7400886 )
1980
18
Testicular regression syndrome. ( 569795 )
1979
19
Anorchia and persistent MA1llerian duct: a variant of the embryonic testicular regression syndrome. ( 122413 )
1978

Variations for Testicular Regression Syndrome

Expression for Testicular Regression Syndrome

Search GEO for disease gene expression data for Testicular Regression Syndrome.

Pathways for Testicular Regression Syndrome

GO Terms for Testicular Regression Syndrome

Sources for Testicular Regression Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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