MCID: SRT001
MIFTS: 32

Sertoli Cell-Only Syndrome malady

Categories: Rare diseases, Reproductive diseases

Aliases & Classifications for Sertoli Cell-Only Syndrome

About this section

Aliases & Descriptions for Sertoli Cell-Only Syndrome:

Name: Sertoli Cell-Only Syndrome 33 11 46 13 37
Germinal Cell Aplasia 11 46
 
Del Castillo Syndrome 11 46
Congenital Absence of Germinal Epithelium of Testes 66

Classifications:



External Ids:

Disease Ontology11 DOID:0050457
SNOMED-CT60 73465006
MeSH37 D054331

Summaries for Sertoli Cell-Only Syndrome

About this section
NIH Rare Diseases:46 Sertoli cell-only syndrome (sco syndrome) is a cause of male infertility. in sco syndrome, only sertoli cells (cells that nurture immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). men typically learn they are affected between ages 20-40 when being evaluated for infertility and are found to have no sperm production (azoospermia). the diagnosis is confirmed by a testicular biopsy. other signs and symptoms are rare, but are secondary to the underlying condition causing sco syndrome. most cases are idiopathic (of unknown cause), but causes may include deletions in the azoospermia factor (azf) region of the y chromosome or y-chromosome microdeletions (referred to as y chromosome infertility), klinefelter syndrome, exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. there is not currently no effective treatment when there is a complete absence of mature sperm cells. last updated: 9/12/2016

MalaCards based summary: Sertoli Cell-Only Syndrome, also known as germinal cell aplasia, is related to ahumada del castillo syndrome and triphalangeal thumbs with brachyectrodactyly, and has symptoms including abnormality of the thorax, gynecomastia and obesity. An important gene associated with Sertoli Cell-Only Syndrome is USP9Y (Ubiquitin Specific Peptidase 9, Y-Linked). Affiliated tissues include testes and testis.

Wikipedia:69 Sertoli cell-only syndrome (a.k.a. Del Castillo syndrome and germ cell aplasia ) is a disorder... more...

Related Diseases for Sertoli Cell-Only Syndrome

About this section

Graphical network of the top 20 diseases related to Sertoli Cell-Only Syndrome:



Diseases related to sertoli cell-only syndrome

Symptoms for Sertoli Cell-Only Syndrome

About this section

HPO human phenotypes related to Sertoli Cell-Only Syndrome:

id Description Frequency HPO Source Accession
1 abnormality of the thorax HP:0000765
2 gynecomastia HP:0000771
3 obesity HP:0001513
4 abnormality of metabolism/homeostasis HP:0001939

Drugs & Therapeutics for Sertoli Cell-Only Syndrome

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Role of FSHR Polymorphism p.N680S in the Therapy With FSH in Patients Who Underwent Varicocele SurgeryNot yet recruitingNCT02719093Phase 4

Search NIH Clinical Center for Sertoli Cell-Only Syndrome


Cochrane evidence based reviews: sertoli cell-only syndrome

Genetic Tests for Sertoli Cell-Only Syndrome

About this section

Anatomical Context for Sertoli Cell-Only Syndrome

About this section

MalaCards organs/tissues related to Sertoli Cell-Only Syndrome:

34
Testes, Testis

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Sertoli Cell-Only Syndrome:
id TissueAnatomical CompartmentCell Relevance
1 TestisSeminiferous TubulesSpermatogonial Stem Cells Affected by disease

Animal Models for Sertoli Cell-Only Syndrome or affiliated genes

About this section

Publications for Sertoli Cell-Only Syndrome

About this section

Articles related to Sertoli Cell-Only Syndrome:

(show top 50)    (show all 66)
idTitleAuthorsYear
1
Sertoli Cell-Only Syndrome: Behind the Genetic Scenes. (26925412)
2016
2
Sertoli cell only syndrome with ambiguous genitalia. (27124672)
2016
3
Predictive factors of successful microdissection testicular sperm extraction in patients with presumed sertoli cell-only syndrome. (25918598)
2015
4
PRPS2 Expression Correlates with Sertoli-Cell Only Syndrome and Inhibits the Apoptosis of TM4 Sertoli Cells. (26004865)
2015
5
A PLK4 mutation causing azoospermia in a man with Sertoli cell-only syndrome. (26452337)
2015
6
Varicocele-caused progressive damage in bilateral testis and sertoli cell-only syndrome in homolateral testis in rats. (25313556)
2014
7
Insulinoma presenting with long-standing depression, primary hypogonadism, and sertoli cell only syndrome. (24455334)
2013
8
Single-nucleotide polymorphisms in the LRWD1 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome. (23445371)
2013
9
The Sertoli Cell Only Syndrome and Glaucoma in a Sex - Determining Region Y (SRY) Positive XX Infertile Male. (23998093)
2013
10
Association of aberrant expression of sex-determining gene fibroblast growth factor 9 with Sertoli cell-only syndrome. (24011613)
2013
11
Sertoli cell only syndrome: Status of sertoli cell maturation and function. (23565483)
2012
12
ETV5 mutations: revisiting Sertoli cell only syndrome. (22818288)
2012
13
Re: Copy number variants in patients with severe oligozoospermia and sertoli-cell-only syndrome. (22153466)
2012
14
Azoospermia and Sertoli-cell-only syndrome: hypoxia in the sperm production site due to impairment in venous drainage of male reproductive system. (20860630)
2010
15
Modified expression of cytoplasmic isocitrate dehydrogenase electrophoretic isoforms in seminal plasma of men with sertoli-cell-only syndrome and seminoma. (18058805)
2008
16
Effect of TGF-beta/Smad signaling on sertoli cell and possible mechanism related to complete sertoli cell-only syndrome. (18648910)
2008
17
Involvement of the Fas-Fas ligand system and active caspase-3 in abnormal apoptosis in human testes with maturation arrest and Sertoli cell-only syndrome. (17123522)
2007
18
Isochromosome of Yp in a man with Sertoli-cell-only syndrome. (15749513)
2005
19
Differentiating between primary and secondary Sertoli-cell-only syndrome by histologic and hormonal parameters. (15950666)
2005
20
Expression of inhibin alpha, glial cell line-derived neurotrophic factor and stem cell factor in Sertoli cell-only syndrome: relation to successful sperm retrieval by microdissection testicular sperm extraction. (15845595)
2005
21
AZF and DAZ gene copy-specific deletion analysis in maturation arrest and Sertoli cell-only syndrome. (15347736)
2004
22
Misregulation of histone acetylation in Sertoli cell-only syndrome and testicular cancer. (14614037)
2003
23
Microsatellite instability and defects in mismatch repair proteins: a new aetiology for Sertoli cell-only syndrome. (12569174)
2003
24
DNA flow-cytometric, histological and hormonal analysis of sertoli cell only syndrome (SECOS). (12090345)
2002
25
Absence of anti-MA1llerian hormone (AMH) and M2A immunoreactivities in Sertoli cell-only syndrome and maturation arrest with and without AZF microdeletions. (12151437)
2002
26
Criteria predicting the absence of spermatozoa in the Sertoli cell-only syndrome can be used to improve success rates of sperm retrieval. (11056118)
2000
27
AZFa deletions in Sertoli cell-only syndrome: a retrospective study. (10956551)
2000
28
Highly sensitive quantitative telomerase assay of diagnostic testicular biopsy material predicts the presence of haploid spermatogenic cells in therapeutic testicular biopsy in men with Sertoli cell-only syndrome. (10601094)
1999
29
High frequency of well-defined Y-chromosome deletions in idiopathic Sertoli cell-only syndrome. (9557827)
1998
30
Association of terminal chromosome 1 deletion with sertoli cell-only syndrome. (9856570)
1998
31
Is it Sertoli cell only syndrome? A case study and clinical caution. (9007947)
1996
32
Sertoli cell only syndrome. (8847402)
1996
33
Sertoli cell only syndrome. (8847401)
1996
34
Sertoli cell only syndrome (SECOS): lessons from case studies. (1744970)
1991
35
Sertoli-cell-only syndrome: a case report. (2212920)
1990
36
Sertoli cell types in the Sertoli-cell-only syndrome: relationships between Sertoli cell morphology and aetiology. (2182507)
1990
37
Molecular scanning of Yq11 (interval 6) in men with Sertoli-cell-only syndrome. (2603934)
1989
38
Sertoli cell-only syndrome produced by cold testicular ischemia. (3125037)
1988
39
Cytoplasmic granular change of Sertoli cells in two cases of Sertoli-cell-only syndrome. (3337633)
1988
40
Sertoli cell only syndrome: a variant of testicular germinal cell absence. (3110895)
1987
41
Incipient germ cell tumor in Sertoli-cell-only syndrome testis, accompanied with retroperitoneal teratocarcinoma and widespread metastases. (3019076)
1986
42
Sertoli cell only syndrome and normal gonadotropins. (3921413)
1985
43
A unique case of Sertoli cell only syndrome with normal gonadotropins. (4054336)
1985
44
A unique case of Sertoli cell only syndrome with normal gonadotropins. (6436067)
1984
45
Endocrine profile of 45 patients with Sertoli cell only syndrome. (6410933)
1983
46
Presence of positive feedback between oestrogen and LH in patients with Klinefelter's syndrome, and Sertoli-cell-only syndrome. (455739)
1979
47
Endocrine studies in Sertoli-cell-only syndrome. (933291)
1976
48
Urinary gonadotrophins in the Sertoli-Cell-only syndrome. (123110)
1975
49
Disparity in the negative gonadal feedback control for LH and FSH secretion in cases of germinal aplasia or Sertoli-cell-only syndrome. (4831706)
1974
50
Plasma gonadotropins in germinal cell aplasia (Sertoli-cell-only syndrome). (4699683)
1973

Variations for Sertoli Cell-Only Syndrome

About this section

Copy number variations for Sertoli Cell-Only Syndrome from CNVD:

6 (show all 37)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
166616123113251631223665DeletionDDX11Sertoli-cell only syndrome
266617123113251631223665DeletionOVOS2Sertoli-cell only syndrome
3736831295283909610254DeletionSertoli-cell only syndrome
4736851295283909610254DuplicationSertoli-cell only syndrome
573909129849166198519308DeletionANKS1BSertoli-cell only syndrome
68242414105602402105630289DeletionSertoli-cell only syndrome
78242614105602402105630289DuplicationSertoli-cell only syndrome
883075141926857619490830DeletionOR4K1Sertoli-cell only syndrome
983077141926857619490830DeletionOR4K2Sertoli-cell only syndrome
1083079141926857619490830DeletionOR4K5Sertoli-cell only syndrome
1183081141926857619490830DeletionOR4M1Sertoli-cell only syndrome
1283083141926857619490830DeletionOR4N2Sertoli-cell only syndrome
1383085141926857619490830DeletionOR4Q3Sertoli-cell only syndrome
14112920174152134441566740DuplicationKIAA1267Sertoli-cell only syndrome
1517936638947671989499633DeletionEPHA3Sertoli-cell only syndrome
1618886546906945169166014DeletionUGT2B17Sertoli-cell only syndrome
172208177141413152141438704DeletionMGAMSertoli-cell only syndrome
182359018145061948145093349Duplication, deletionMIR661Sertoli-cell only syndrome
192359028145061948145093349Duplication, deletionPLECSertoli-cell only syndrome
202578080110226892110965127DuplicationALG13Sertoli-cell only syndrome
212578090110226892110965127DuplicationCAPN6Sertoli-cell only syndrome
222578100110226892110965127DuplicationDCXSertoli-cell only syndrome
232578110110226892110965127DuplicationPAK3Sertoli-cell only syndrome
242583260118780844118798128DuplicationSertoli-cell only syndrome
252586300122920543123009115DuplicationSTAG2Sertoli-cell only syndrome
262590750131413847131439663DeletionMBNL3Sertoli-cell only syndrome
272593650134600709134628136DuplicationSertoli-cell only syndrome
2826127901668823316707403DuplicationSYAP1Sertoli-cell only syndrome
2926172802556826325583583DeletionSertoli-cell only syndrome
30261838027110732814530DeletionGYG2Sertoli-cell only syndrome
31261839027110732814530DeletionXGSertoli-cell only syndrome
3226295504406759044084085DuplicationEFHC2Sertoli-cell only syndrome
3326435006480600064854709DuplicationMSNSertoli-cell only syndrome
3426443906538550165413711DuplicationHEPHSertoli-cell only syndrome
3526703402196479422058959DuplicationRBMY2EPSertoli-cell only syndrome
3626721302687016127073218DuplicationSertoli-cell only syndrome
37267457073488647491480DuplicationSertoli-cell only syndrome

Expression for genes affiliated with Sertoli Cell-Only Syndrome

About this section
Search GEO for disease gene expression data for Sertoli Cell-Only Syndrome.

Pathways for genes affiliated with Sertoli Cell-Only Syndrome

About this section

GO Terms for genes affiliated with Sertoli Cell-Only Syndrome

About this section

Cellular components related to Sertoli Cell-Only Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cleavage furrowGO:00321549.8RHOB, SEPT12

Biological processes related to Sertoli Cell-Only Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell cycleGO:004578610.1NUPR1, RHOB
2male gonad developmentGO:00085849.3FGF9, FSHR, NUPR1
3cell differentiationGO:00301549.1DAZ1, ETV5, RHOB, SPATA9
4spermatogenesisGO:00072839.0DAZ1, FSHR, SPATA9, USP9Y

Molecular functions related to Sertoli Cell-Only Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1GDP bindingGO:00190039.8RHOB, SEPT12

Sources for Sertoli Cell-Only Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet