loading...| Preferred Name | Sertoli Cell-Only Syndrome | |
| Synonyms |
Del Castillo syndrome Sertoli cell-only syndrome spermatogenic failure, x-linked, 1 DEL CASTILLO syndrome Germinal cell aplasia x-linked spermatogenic failture type 1 |
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| Definitions |
Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome. Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy. Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children. A type of male infertility in which no germ cells are visible in any of the biopsied SEMINIFEROUS TUBULES (type I) or in which germ cells are present in a minority of tubules (type II). Clinical features include AZOOSPERMIA, normal VIRILIZATION, and normal chromosomal complement. |
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| ID |
http://www.ebi.ac.uk/efo/EFO_1001422 |
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| database_cross_reference |
MESH:D054331 ICD9:752.89 NCIT:C168988 SCTID:73465006 DOID:0050457 OMIM:305700 MeSH:D054331 UMLS:C1384583 MEDGEN:235163 MONDO:0010595 |
|
| definition |
Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome. Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy. Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children. A type of male infertility in which no germ cells are visible in any of the biopsied SEMINIFEROUS TUBULES (type I) or in which germ cells are present in a minority of tubules (type II). Clinical features include AZOOSPERMIA, normal VIRILIZATION, and normal chromosomal complement. |
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| exactMatch |
http://purl.obolibrary.org/obo/DOID_0050457 http://identifiers.org/mesh/D054331 http://identifiers.org/medgen/235163 http://linkedlifedata.com/resource/umls/id/C1384583 |
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| gwas_trait |
true |
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| has_exact_synonym |
Sertoli cell-only syndrome spermatogenic failure, x-linked, 1 DEL CASTILLO syndrome Germinal cell aplasia x-linked spermatogenic failture type 1 |
|
| has_related_synonym |
Del Castillo syndrome |
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| IAO_0000233 | ||
| IAO_0006012 |
2024-06-01 |
|
| id |
EFO:1001422 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#otar |
|
| label |
Sertoli Cell-Only Syndrome |
|
| notation |
EFO:1001422 |
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| preferred label |
Sertoli Cell-Only Syndrome |
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| prefLabel |
Sertoli Cell-Only Syndrome |
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| see also |
https://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome |
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| term editor |
Sirarat Sarntivijai |
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| subClassOf |