MCID: SRT001
MIFTS: 31

Sertoli Cell-Only Syndrome malady

Categories: Rare diseases, Reproductive diseases

Aliases & Classifications for Sertoli Cell-Only Syndrome

Aliases & Descriptions for Sertoli Cell-Only Syndrome:

Name: Sertoli Cell-Only Syndrome 38 12 50 42 14
Del Castillo Syndrome 12 50
Germinal Cell Aplasia 12 50
Congenital Absence of Germinal Epithelium of Testes 69

Classifications:



External Ids:

Disease Ontology 12 DOID:0050457
MeSH 42 D054331
SNOMED-CT 64 73465006
UMLS 69 C1384583

Summaries for Sertoli Cell-Only Syndrome

NIH Rare Diseases : 50 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 del castillo syndrome, is related to ahumada del castillo syndrome and spermatogenic failure, y-linked, 1, and has symptoms including obesity, abnormality of metabolism/homeostasis and abnormality of the thorax. An important gene associated with Sertoli Cell-Only Syndrome is DAZ1 (Deleted In Azoospermia 1). Affiliated tissues include Testis, testes and testis.

Wikipedia : 71 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

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



Diseases related to Sertoli Cell-Only Syndrome

Symptoms & Phenotypes for Sertoli Cell-Only Syndrome

Human phenotypes related to Sertoli Cell-Only Syndrome:

32
id Description HPO Frequency HPO Source Accession
1 obesity 32 HP:0001513
2 abnormality of metabolism/homeostasis 32 HP:0001939
3 abnormality of the thorax 32 HP:0000765
4 gynecomastia 32 HP:0000771

Drugs & Therapeutics for Sertoli Cell-Only Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 Role of FSHR Polymorphism p.N680S in the Therapy With FSH in Patients Who Underwent Varicocele Surgery Not yet recruiting NCT02719093 Phase 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

Anatomical Context for Sertoli Cell-Only Syndrome

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

39
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 Tissue Anatomical CompartmentCell Relevance
1 Testis Seminiferous Tubules Spermatogonial Stem Cells Affected by disease

Publications for Sertoli Cell-Only Syndrome

Articles related to Sertoli Cell-Only Syndrome:

(show top 50) (show all 67)
id Title Authors Year
1
Overexpression of CYP19A1 aromatase in Leydig cells is associated with steroidogenic dysfunction in subjects with Sertoli cell-only syndrome. ( 27769104 )
2017
2
Discrimination and characterization of Sertoli cell-only syndrome in non-obstructive azoospermia using cell-free seminal DDX4. ( 27211570 )
2016
3
Sertoli Cell-Only Syndrome: Behind the Genetic Scenes. ( 26925412 )
2016
4
Sertoli cell only syndrome with ambiguous genitalia. ( 27124672 )
2016
5
PRPS2 Expression Correlates with Sertoli-Cell Only Syndrome and Inhibits the Apoptosis of TM4 Sertoli Cells. ( 26004865 )
2015
6
Predictive factors of successful microdissection testicular sperm extraction in patients with presumed sertoli cell-only syndrome. ( 25918598 )
2015
7
A PLK4 mutation causing azoospermia in a man with Sertoli cell-only syndrome. ( 26452337 )
2015
8
Varicocele-caused progressive damage in bilateral testis and sertoli cell-only syndrome in homolateral testis in rats. ( 25313556 )
2014
9
Association of aberrant expression of sex-determining gene fibroblast growth factor 9 with Sertoli cell-only syndrome. ( 24011613 )
2013
10
Single-nucleotide polymorphisms in the LRWD1 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome. ( 23445371 )
2013
11
Sperm retrieval and live birth rates in presumed Sertoli-cell-only syndrome in testis biopsy: a single centre experience. ( 23258629 )
2013
12
Insulinoma presenting with long-standing depression, primary hypogonadism, and sertoli cell only syndrome. ( 24455334 )
2013
13
The Sertoli Cell Only Syndrome and Glaucoma in a Sex - Determining Region Y (SRY) Positive XX Infertile Male. ( 23998093 )
2013
14
Sertoli cell only syndrome: Status of sertoli cell maturation and function. ( 23565483 )
2012
15
Single-nucleotide polymorphisms in the SEPTIN12 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome. ( 21636737 )
2012
16
ETV5 mutations: revisiting Sertoli cell only syndrome. ( 22818288 )
2012
17
Genetic variants in the ETV5 gene in fertile and infertile men with nonobstructive azoospermia associated with Sertoli cell-only syndrome. ( 22771031 )
2012
18
HnRNPL as a key factor in spermatogenesis: Lesson from functional proteomic studies of azoospermia patients with sertoli cell only syndrome. ( 22245417 )
2012
19
Re: Copy number variants in patients with severe oligozoospermia and sertoli-cell-only syndrome. ( 22153466 )
2012
20
Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome. ( 21559371 )
2011
21
Azoospermia and Sertoli-cell-only syndrome: hypoxia in the sperm production site due to impairment in venous drainage of male reproductive system. ( 20860630 )
2010
22
Immunohistological profile of the Ras homologous B protein (RhoB) in human testes showing normal spermatogenesis, spermatogenic arrest and Sertoli cell only syndrome. ( 19997872 )
2010
23
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
24
Modified expression of cytoplasmic isocitrate dehydrogenase electrophoretic isoforms in seminal plasma of men with sertoli-cell-only syndrome and seminoma. ( 18058805 )
2008
25
Effect of TGF-beta/Smad signaling on sertoli cell and possible mechanism related to complete sertoli cell-only syndrome. ( 18648910 )
2008
26
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
27
Differentiating between primary and secondary Sertoli-cell-only syndrome by histologic and hormonal parameters. ( 15950666 )
2005
28
Isochromosome of Yp in a man with Sertoli-cell-only syndrome. ( 15749513 )
2005
29
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
30
AZF and DAZ gene copy-specific deletion analysis in maturation arrest and Sertoli cell-only syndrome. ( 15347736 )
2004
31
Microsatellite instability and defects in mismatch repair proteins: a new aetiology for Sertoli cell-only syndrome. ( 12569174 )
2003
32
Misregulation of histone acetylation in Sertoli cell-only syndrome and testicular cancer. ( 14614037 )
2003
33
DNA flow-cytometric, histological and hormonal analysis of sertoli cell only syndrome (SECOS). ( 12090345 )
2002
34
Absence of anti-MA1llerian hormone (AMH) and M2A immunoreactivities in Sertoli cell-only syndrome and maturation arrest with and without AZF microdeletions. ( 12151437 )
2002
35
High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. ( 11574668 )
2001
36
AZFa deletions in Sertoli cell-only syndrome: a retrospective study. ( 10956551 )
2000
37
Criteria predicting the absence of spermatozoa in the Sertoli cell-only syndrome can be used to improve success rates of sperm retrieval. ( 11056118 )
2000
38
Sertoli cell expression of galectin-1 and -3 and accessible binding sites in normal human testis and Sertoli cell only-syndrome. ( 10425546 )
1999
39
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
40
High frequency of well-defined Y-chromosome deletions in idiopathic Sertoli cell-only syndrome. ( 9557827 )
1998
41
Association of terminal chromosome 1 deletion with sertoli cell-only syndrome. ( 9856570 )
1998
42
Does the gonadotrophic axis play a role in the pathogenesis of Sertoli-cell-only syndrome? ( 9202988 )
1997
43
Is it Sertoli cell only syndrome? A case study and clinical caution. ( 9007947 )
1996
44
Sertoli cell only syndrome. ( 8847402 )
1996
45
Sertoli cell only syndrome. ( 8847401 )
1996
46
Sertoli cell only syndrome (SECOS): lessons from case studies. ( 1744970 )
1991
47
Sertoli cell types in the Sertoli-cell-only syndrome: relationships between Sertoli cell morphology and aetiology. ( 2182507 )
1990
48
Sertoli-cell-only syndrome: a case report. ( 2212920 )
1990
49
Molecular scanning of Yq11 (interval 6) in men with Sertoli-cell-only syndrome. ( 2603934 )
1989
50
Testicular FSH and hCG receptors in Sertoli-cell-only syndrome. ( 2511815 )
1989

Variations for Sertoli Cell-Only Syndrome

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

7 (show all 37)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 66616 12 31132516 31223665 Deletion DDX11 Sertoli-cell only syndrome
2 66617 12 31132516 31223665 Deletion OVOS2 Sertoli-cell only syndrome
3 73683 12 9528390 9610254 Deletion Sertoli-cell only syndrome
4 73685 12 9528390 9610254 Duplication Sertoli-cell only syndrome
5 73909 12 98491661 98519308 Deletion ANKS1B Sertoli-cell only syndrome
6 82424 14 105602402 105630289 Deletion Sertoli-cell only syndrome
7 82426 14 105602402 105630289 Duplication Sertoli-cell only syndrome
8 83075 14 19268576 19490830 Deletion OR4K1 Sertoli-cell only syndrome
9 83077 14 19268576 19490830 Deletion OR4K2 Sertoli-cell only syndrome
10 83079 14 19268576 19490830 Deletion OR4K5 Sertoli-cell only syndrome
11 83081 14 19268576 19490830 Deletion OR4M1 Sertoli-cell only syndrome
12 83083 14 19268576 19490830 Deletion OR4N2 Sertoli-cell only syndrome
13 83085 14 19268576 19490830 Deletion OR4Q3 Sertoli-cell only syndrome
14 112920 17 41521344 41566740 Duplication KIAA1267 Sertoli-cell only syndrome
15 179366 3 89476719 89499633 Deletion EPHA3 Sertoli-cell only syndrome
16 188865 4 69069451 69166014 Deletion UGT2B17 Sertoli-cell only syndrome
17 220817 7 141413152 141438704 Deletion MGAM Sertoli-cell only syndrome
18 235901 8 145061948 145093349 Duplication, deletion MIR661 Sertoli-cell only syndrome
19 235902 8 145061948 145093349 Duplication, deletion PLEC Sertoli-cell only syndrome
20 257808 X 110226892 110965127 Duplication ALG13 Sertoli-cell only syndrome
21 257809 X 110226892 110965127 Duplication CAPN6 Sertoli-cell only syndrome
22 257810 X 110226892 110965127 Duplication DCX Sertoli-cell only syndrome
23 257811 X 110226892 110965127 Duplication PAK3 Sertoli-cell only syndrome
24 258326 X 118780844 118798128 Duplication Sertoli-cell only syndrome
25 258630 X 122920543 123009115 Duplication STAG2 Sertoli-cell only syndrome
26 259075 X 131413847 131439663 Deletion MBNL3 Sertoli-cell only syndrome
27 259365 X 134600709 134628136 Duplication Sertoli-cell only syndrome
28 261279 X 16688233 16707403 Duplication SYAP1 Sertoli-cell only syndrome
29 261728 X 25568263 25583583 Deletion Sertoli-cell only syndrome
30 261838 X 2711073 2814530 Deletion GYG2 Sertoli-cell only syndrome
31 261839 X 2711073 2814530 Deletion XG Sertoli-cell only syndrome
32 262955 X 44067590 44084085 Duplication EFHC2 Sertoli-cell only syndrome
33 264350 X 64806000 64854709 Duplication MSN Sertoli-cell only syndrome
34 264439 X 65385501 65413711 Duplication HEPH Sertoli-cell only syndrome
35 267034 Y 21964794 22058959 Duplication RBMY2EP Sertoli-cell only syndrome
36 267213 Y 26870161 27073218 Duplication Sertoli-cell only syndrome
37 267457 Y 7348864 7491480 Duplication Sertoli-cell only syndrome

Expression for Sertoli Cell-Only Syndrome

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

Pathways for Sertoli Cell-Only Syndrome

GO Terms for Sertoli Cell-Only Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 cleavage furrow GO:0032154 8.8 PLK4 RHOB SEPT12

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

id Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.43 DAZ1 ETV5 FGF9 RHOB SEPT12 SPATA9
2 male gonad development GO:0008584 9.33 FGF9 FSHR NUPR1
3 negative regulation of cell cycle GO:0045786 9.26 NUPR1 RHOB
4 spermatogenesis GO:0007283 9.02 DAZ1 FSHR SEPT12 SPATA9 USP9Y

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

id Name GO ID Score Top Affiliating Genes
1 GDP binding GO:0019003 8.8 PRPS2 RHOB SEPT12

Sources for Sertoli Cell-Only Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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