MCID: SRT001
MIFTS: 34

Sertoli Cell-Only Syndrome malady

Categories: Rare diseases, Reproductive diseases

Aliases & Classifications for Sertoli Cell-Only Syndrome

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Aliases & Descriptions for Sertoli Cell-Only Syndrome:

Name: Sertoli Cell-Only Syndrome 32 10 45 12 36
Germinal Cell Aplasia 10 45
 
Del Castillo Syndrome 10 45
Congenital Absence of Germinal Epithelium of Testes 65

Classifications:



External Ids:

Disease Ontology10 DOID:0050457
SNOMED-CT59 73465006
MeSH36 D054331
UMLS65 C1384583

Summaries for Sertoli Cell-Only Syndrome

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NIH Rare Diseases:45 Sertoli cell-only syndrome (sco syndrome) is a condition of the testes that causes infertility in males due to having only sertoli cells (cells that nurture immature sperm) lining 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 made based on testicular biopsy findings. 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 and toxins; history of radiation therapy; and history of severe trauma. there is not currently a known effective treatment for the condition. when no germ cells are visible in any seminiferous tubules it is considered sco type i; if germ cells are present in a minority of tubules is it considered sco type ii. last updated: 2/18/2011

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

Wikipedia:68 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

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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

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HPO human phenotypes related to Sertoli Cell-Only Syndrome:

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

Drugs & Therapeutics for Sertoli Cell-Only Syndrome

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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

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Anatomical Context for Sertoli Cell-Only Syndrome

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

33
Testes, Heart, Kidney, Endothelial, Placenta, T cells, Skin

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

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Publications for Sertoli Cell-Only Syndrome

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Articles related to Sertoli Cell-Only Syndrome:

(show top 50)    (show all 66)
idTitleAuthorsYear
1
Sertoli cell only syndrome with ambiguous genitalia. (27124672)
2016
2
Sertoli Cell-Only Syndrome: Behind the Genetic Scenes. (26925412)
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
Insulinoma presenting with long-standing depression, primary hypogonadism, and sertoli cell only syndrome. (24455334)
2013
7
Single-nucleotide polymorphisms in the LRWD1 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome. (23445371)
2013
8
The Sertoli Cell Only Syndrome and Glaucoma in a Sex - Determining Region Y (SRY) Positive XX Infertile Male. (23998093)
2013
9
Association of aberrant expression of sex-determining gene fibroblast growth factor 9 with Sertoli cell-only syndrome. (24011613)
2013
10
Sperm retrieval and live birth rates in presumed Sertoli-cell-only syndrome in testis biopsy: a single centre experience. (23258629)
2013
11
Re: Copy number variants in patients with severe oligozoospermia and sertoli-cell-only syndrome. (22153466)
2012
12
Sertoli cell only syndrome: Status of sertoli cell maturation and function. (23565483)
2012
13
Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome. (21559371)
2011
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
Immunohistological profile of the Ras homologous B protein (RhoB) in human testes showing normal spermatogenesis, spermatogenic arrest and Sertoli cell only syndrome. (19997872)
2010
16
Effect of TGF-beta/Smad signaling on sertoli cell and possible mechanism related to complete sertoli cell-only syndrome. (18648910)
2008
17
Loss of the protein NUPR1 (p8) leads to delayed LHB expression, delayed ovarian maturation, and testicular development of a sertoli-cell-only syndrome-like phenotype in mice. (18495683)
2008
18
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
19
Isochromosome of Yp in a man with Sertoli-cell-only syndrome. (15749513)
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
Differentiating between primary and secondary Sertoli-cell-only syndrome by histologic and hormonal parameters. (15950666)
2005
22
Misregulation of histone acetylation in Sertoli cell-only syndrome and testicular cancer. (14614037)
2003
23
Absence of anti-MA1llerian hormone (AMH) and M2A immunoreactivities in Sertoli cell-only syndrome and maturation arrest with and without AZF microdeletions. (12151437)
2002
24
High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. (11574668)
2001
25
Criteria predicting the absence of spermatozoa in the Sertoli cell-only syndrome can be used to improve success rates of sperm retrieval. (11056118)
2000
26
AZFa deletions in Sertoli cell-only syndrome: a retrospective study. (10956551)
2000
27
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
28
Sertoli cell expression of galectin-1 and -3 and accessible binding sites in normal human testis and Sertoli cell only-syndrome. (10425546)
1999
29
Association of terminal chromosome 1 deletion with sertoli cell-only syndrome. (9856570)
1998
30
Does the gonadotrophic axis play a role in the pathogenesis of Sertoli-cell-only syndrome? (9202988)
1997
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 types in the Sertoli-cell-only syndrome: relationships between Sertoli cell morphology and aetiology. (2182507)
1990
36
Sertoli-cell-only syndrome: a case report. (2212920)
1990
37
Molecular scanning of Yq11 (interval 6) in men with Sertoli-cell-only syndrome. (2603934)
1989
38
Testicular lectinhistochemistry in the Sertoli-cell-only-syndrome. (2482681)
1989
39
Sertoli cell-only syndrome produced by cold testicular ischemia. (3125037)
1988
40
Cytoplasmic granular change of Sertoli cells in two cases of Sertoli-cell-only syndrome. (3337633)
1988
41
Sertoli cell only syndrome: a variant of testicular germinal cell absence. (3110895)
1987
42
Incipient germ cell tumor in Sertoli-cell-only syndrome testis, accompanied with retroperitoneal teratocarcinoma and widespread metastases. (3019076)
1986
43
A unique case of Sertoli cell only syndrome with normal gonadotropins. (4054336)
1985
44
Sertoli cell only syndrome and normal gonadotropins. (3921413)
1985
45
A unique case of Sertoli cell only syndrome with normal gonadotropins. (6436067)
1984
46
Endocrine studies of azoospermia. I. Serum steroid levels in Sertoli cell only syndrome. (485648)
1979
47
Endocrine studies in Sertoli-cell-only syndrome. (933291)
1976
48
Serum LH and FSH response in four-hour infusions of luteinizing hormone-releasing hormone in normal men, Sertoli cell only syndrome, and Klinefelter's syndrome. (1102553)
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

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Expression for genes affiliated with Sertoli Cell-Only Syndrome

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

Pathways for genes affiliated with Sertoli Cell-Only Syndrome

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GO Terms for genes affiliated with Sertoli Cell-Only Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1locomotory behaviorGO:00076269.8ETV5, FSHR
2male gonad developmentGO:00085849.5FSHR, NUPR1
3negative regulation of cell cycleGO:00457869.2NUPR1, RHOB

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

idNameGO IDScoreTop Affiliating Genes
1cysteine-type peptidase activityGO:000823410.0USP26, USP9Y

Sources for Sertoli Cell-Only Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet