MCID: TST033
MIFTS: 31

Testicular Regression Syndrome

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

Aliases & Classifications for Testicular Regression Syndrome

MalaCards integrated aliases for Testicular Regression Syndrome:

Name: Testicular Regression Syndrome 57 59 55 73
Xy Gonadal Agenesis Syndrome 57 59
Trs 57 59
Embryonic Testicular Regression Syndrome 59
Testicular Regression, Embryonic 57
Vanishing Testes Syndrome 59
Vanishing Testis Syndrome 59
Anorchia, Familial 57
Etrs 59
Tre 76

Characteristics:

Orphanet epidemiological data:

59
testicular regression syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive with sex limitation


Classifications:



External Ids:

OMIM 57 273250
Orphanet 59 ORPHA983
MESH via Orphanet 45 C537770
ICD10 via Orphanet 34 Q55.0
UMLS via Orphanet 74 C0266427 C0405582 C1261504
MedGen 42 C0266427
UMLS 73 C0266427

Summaries for Testicular Regression Syndrome

OMIM : 57 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 abnormality of the face

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 59)
# Related Disease Score Top Affiliating Genes
1 atrial fibrillation 11.0
2 spastic paraplegia 20, autosomal recessive 10.9
3 swine influenza 10.9
4 somatization disorder 10.9
5 thyroiditis 10.3
6 cerebellar degeneration 10.1
7 paraneoplastic cerebellar degeneration 10.1
8 personality disorder 10.0
9 gonadal agenesis 10.0
10 premature ejaculation 10.0
11 neuronitis 10.0
12 scleroderma, familial progressive 9.9
13 intermittent claudication 9.9
14 schizophrenia 9.9
15 ovarian cancer 9.9
16 pheochromocytoma 9.9
17 gynecomastia 9.8
18 autism 9.8
19 paine syndrome 9.8
20 aceruloplasminemia 9.8
21 major depressive disorder 9.8
22 ataxia-oculomotor apraxia 3 9.8
23 autism spectrum disorder 9.8
24 borderline personality disorder 9.8
25 retinitis 9.8
26 depression 9.8
27 osteoporosis 9.7
28 hypogonadism 9.7
29 machado-joseph disease 9.7
30 breast cancer 9.7
31 hepatocellular carcinoma 9.7
32 otitis media 9.7
33 thyroid hormone resistance, generalized, autosomal dominant 9.7
34 lymphoma, hodgkin, classic 9.7
35 dubin-johnson syndrome 9.7
36 neuroblastoma 9.7
37 thyroid hormone resistance, generalized, autosomal recessive 9.7
38 human immunodeficiency virus type 1 9.7
39 trichotillomania 9.7
40 tricuspid valve disease 9.7
41 lymphoma 9.7
42 congenital nongoitrous hypothryoidism 1 9.7
43 gastric ulcer 9.7
44 dissociative amnesia 9.7
45 dementia 9.7
46 pedophilia 9.7
47 squamous cell carcinoma 9.7
48 conversion disorder 9.7
49 post-traumatic stress disorder 9.7
50 narcissistic personality disorder 9.7

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



Diseases related to Testicular Regression Syndrome

Symptoms & Phenotypes for Testicular Regression Syndrome

Symptoms via clinical synopsis from OMIM:

57
GU:
absent gonads

Lab:
46,xy chromosomes


Clinical features from OMIM:

273250

Human phenotypes related to Testicular Regression Syndrome:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased testicular size 59 32 hallmark (90%) Very frequent (99-80%) HP:0008734
2 abnormality of the face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000271
3 decreased fertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000144
4 hypoplasia of penis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008736
5 male pseudohermaphroditism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000037
6 ambiguous genitalia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000062
7 abnormality of female internal genitalia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000008
8 absent testis 59 32 hallmark (90%) Very frequent (99-80%) HP:0010469
9 abnormality of male internal genitalia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000022
10 abnormal internal genitalia 32 HP:0000812
11 aplasia/hypoplasia of the testes 59 Very frequent (99-80%)
12 absent gonadal tissue 59 Very frequent (99-80%)
13 vanishing testis 32 HP:0012870
14 agonadism 32 hallmark (90%) HP:0008633

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:

41
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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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