TRS
MCID: TST033
MIFTS: 35

Testicular Regression Syndrome (TRS)

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


HPO:

33
testicular regression syndrome:
Inheritance autosomal recessive inheritance


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 Crawford expedition was a campaign on the western front of the American Revolutionary War, and one... 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 123)
# 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 bornholm eye disease 10.2
7 cerebellar degeneration 10.2
8 paraneoplastic cerebellar degeneration 10.2
9 autism 10.1
10 eating disorder 10.1
11 gonadal agenesis 10.1
12 retinoblastoma 10.1
13 schizophrenia 10.1
14 autism spectrum disorder 10.1
15 elastosis perforans serpiginosa 10.1
16 scleroderma, familial progressive 10.1
17 cholera 10.1
18 premature ejaculation 10.1
19 pheochromocytoma 10.0
20 dengue hemorrhagic fever 10.0
21 salmonellosis 10.0
22 obstructive nephropathy 10.0
23 squamous cell papilloma 10.0
24 papilloma 10.0
25 xp22.3 microdeletion syndrome 10.0
26 thyroid hormone resistance, generalized, autosomal dominant 10.0
27 lymphoma 10.0
28 post-traumatic stress disorder 10.0
29 herpes simplex 10.0
30 infant gynecomastia 9.9
31 gynecomastia 9.9
32 kaposi sarcoma 9.9
33 carney complex, type 1 9.9
34 lymphoma, hodgkin, classic 9.9
35 thyroid hormone resistance, generalized, autosomal recessive 9.9
36 paine syndrome 9.9
37 caronte 9.9
38 aceruloplasminemia 9.9
39 major depressive disorder 9.9
40 congestive heart failure 9.9
41 endocarditis 9.9
42 sarcoma 9.9
43 bilirubin metabolic disorder 9.9
44 aortic valve insufficiency 9.9
45 rere-related disorders 9.9
46 depression 9.9
47 osteoporosis 9.8
48 hypogonadism 9.8
49 hypogonadotropism 9.8
50 testicular torsion 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, Thyroid, Skin, Brain, Eye

Publications for Testicular Regression Syndrome

Articles related to Testicular Regression Syndrome:

(show top 50) (show all 114)
# Title Authors Year
1
TESTICULAR REGRESSION SYNDROME: PRACTICE VARIATION IN DIAGNOSIS AND MANAGEMENT. ( 31013155 )
2019
2
TRs analysis revealed Staphylococcus epidermidis transmission among patients and hospital. ( 30554239 )
2019
3
Evaluation of the implementation of a Tracheostomy Review Services (TRS): an observational cohort study. ( 30669917 )
2019
4
The Group of Treatment Resistant Schizophrenias. Heterogeneity in Treatment Resistant Schizophrenia (TRS). ( 30761026 )
2018
5
Presence of viable germ cells in testicular regression syndrome remnants: Is routine excision indicated? A systematic review. ( 29124402 )
2018
6
Predicting pathogenicity behavior in Escherichia coli population through a state dependent model and TRS profiling. ( 29385125 )
2018
7
How does the TRS 2°P score relate to real-world patients? ( 29554293 )
2018
8
Role of TRs in Zebrafish Development. ( 29892832 )
2018
9
A dosimetric evaluation of the IAEA-AAPM TRS483 code of practice for dosimetry of small static fields used in conventional linac beams and comparison with IAEA TRS-398, AAPM TG51, and TG51 Addendum protocols. ( 30009526 )
2018
10
Dosimetry of small static fields used in external photon beam radiotherapy: Summary of TRS-483, the IAEA-AAPM international Code of Practice for reference and relative dose determination. ( 30247757 )
2018
11
Insertion position as well as the inserted TRS and gene sequences differentially affect the retention of foreign gene expression by simian hemorrhagic fever virus (SHFV). ( 30286427 )
2018
12
TRS score: Proposed mnemonic for airway assessment and management in patients with head and neck cancers. ( 30390356 )
2018
13
Comments on the TRS-483 protocol on small field dosimetry. ( 30536942 )
2018
14
Reply to "Comments on the TRS-483 Protocol on Small field Dosimetry" [Med. Phys. 45(12), 5666-5668 (2018)]. ( 30536943 )
2018
15
Re: Is Routine Excision of Testicular Remnants in Testicular Regression Syndrome Indicated? ( 27979565 )
2017
16
SPECTRAL CORRECTION FACTORS FOR CONVENTIONAL NEUTRON DOSE METERS USED IN HIGH-ENERGY NEUTRON ENVIRONMENTS-IMPROVED AND EXTENDED RESULTS BASED ON A COMPLETE SURVEY OF ALL NEUTRON SPECTRA IN IAEA-TRS-403. ( 27655802 )
2017
17
Issue of "In Water Calibration Certificate" for Cobalt-beam Quality at 10 cm Reference Depth - Is it Admissible Under TRS 398 Protocol? ( 28405110 )
2017
18
Comparison of AAPM Addendum to TG-51, IAEA TRS-398, and JSMP 12: Calibration of photon beams in water. ( 28771919 )
2017
19
Risk assessment of a formamidine pesticide, Amitraz, focusing on thyroid hormone receptors (TRs) in rainbow trout, Oncorhynchus mykiss. ( 28980919 )
2017
20
Establishing IAEA TRS-457 diagnostic X-ray beam qualities at the Australian primary standard dosimetry laboratory. ( 29159764 )
2017
21
Embryonic Testicular Regression Syndrome Presenting as Primary Amenorrhea: A Case Report and Review of Disorders of Sexual Development. ( 27079915 )
2016
22
TRS-PCR profiling for discrimination of Escherichia coli strains isolated from children with diarrhea under 5 years of age in Lodz region, Poland. ( 27389591 )
2016
23
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
24
Response to letter to the editor re 'Is routine excision of testicular remnants in testicular regression syndrome indicated?' ( 27570094 )
2016
25
Teacher ratings of child behavior in preschool: A MIMIC investigation of the BESS TRS-P. ( 26460897 )
2016
26
Sharing Individual Participant Data (IPD) within the Context of the Trial Reporting System (TRS). ( 26784335 )
2016
27
T3/TRs axis in hepatocellular carcinoma: new concepts for an old pair. ( 27353037 )
2016
28
Comparison between the TRS-398 code of practice and the TG-51 dosimetry protocol for flattening filter free beams. ( 27366933 )
2016
29
Is routine excision of testicular remnants in testicular regression syndrome indicated? ( 25913475 )
2015
30
Presence of a trs-Like Motif Promotes Rep-Mediated Wild-Type Adeno-Associated Virus Type 2 Integration. ( 25972561 )
2015
31
Unliganded TRs regulate growth and developmental timing during early embryogenesis: evidence for a dual function mechanism of TR action. ( 25973174 )
2015
32
Análise De Custo-Utilidade Em Pacientes Com Insuficiência Renal Crônica Submetidos À Terapia Renal Substitutiva (Trs). ( 26534524 )
2015
33
Simple "TRS" Auxiliary tube for retraction of anterior segment using segmental T loop mechanics. ( 24812739 )
2014
34
TRS-based PCR as a potential tool for inter-serovar discrimination of Salmonella Enteritidis, S. Typhimurium, S. Infantis, S. Virchow, S. Hadar, S. Newport and S. Anatum. ( 25063578 )
2014
35
Molecular characterization and developmental expression patterns of thyroid hormone receptors (TRs) and their responsiveness to TR agonist and antagonist in Rana nigromaculata. ( 25288553 )
2014
36
TRS Cs CRwo-water values for the marine environment: analysis, applications and comparisons. ( 22884827 )
2013
37
A psychometric validation of the Japanese versions of new questionnaires on tinnitus (THI-12, TRS, TRSw, TSS, and TSSw). ( 23320814 )
2013
38
Cerebral oxygen saturation evaluated by near-infrared time-resolved spectroscopy (TRS) in pregnant women during caesarean section - a promising new method of maternal monitoring. ( 23383688 )
2013
39
Production of total reducing sugar (TRS) from acid hydrolysed potato peels by sonication and its optimization. ( 24191439 )
2013
40
Functional transcriptional regulatory sequence (TRS) RNA binding and helix destabilizing determinants of murine hepatitis virus (MHV) nucleocapsid (N) protein. ( 22241479 )
2012
41
WHO Working Group discussion on revision of the WHO recommendations for the production and control of poliomyelitis vaccines (oral): TRS Nos. 904 and 910. Report of Meeting held on 20-22 July 2010, Geneva, Switzerland. ( 21729731 )
2011
42
Association study between Disrupted-in-Schizophrenia-1 (DISC1) and Japanese patients with treatment-resistant schizophrenia (TRS). ( 21256178 )
2011
43
The testicular regression syndrome--do remnants require routine excision? ( 21292092 )
2011
44
Establishment of radiation qualities for mammography according to the IEC 61267 and TRS 457. ( 21062803 )
2011
45
Mutant thyroid hormone receptors (TRs) isolated from distinct cancer types display distinct target gene specificities: a unique regulatory repertoire associated with two renal clear cell carcinomas. ( 21622534 )
2011
46
Reference Dosimetry according to the New German Protocol DIN 6800-2 and Comparison with IAEA TRS 398 and AAPM TG 51. ( 22287987 )
2011
47
Total skin electron therapy (TSET): a reimplementation using radiochromic films and IAEA TRS-398 code of practice. ( 20831057 )
2010
48
Radionuclide transfer to fruit in the IAEA TRS 364 Revision. ( 19027202 )
2009
49
Comparison of IPSM 1990 photon dosimetry code of practice with IAEA TRS-398 and AAPM TG-51. ( 19223831 )
2009
50
Issues encountered with kilovoltage x-ray reference dosimetry when changing codes of practice from TRS 277 to TRS 398. ( 19400547 )
2009

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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