loading...| Preferred Name | Leydig cell hypoplasia | |
| Synonyms |
Leydig cell agenesis Male hypergonadotropic hypogonadism due to LHCGR defect 46,XY disorder of sex development due to LH defects LH resistance due to LH receptor deactivation 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to LH resistance or LHB deficiency 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency Male pseudohermaphroditism due to LH resistance or LHB deficiency 46,XY DSD due to LH resistance or LHB deficiency Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency |
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| Definitions |
A condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0019155 |
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| closeMatch | ||
| database_cross_reference |
icd11.foundation:472787488 DOID:0112259 Orphanet:755 UMLS:C0860158 MedDRA:10024406 MESH:C562567 MEDGEN:449533 GARD:3244 |
|
| definition |
A condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person. |
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| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0860158 http://identifiers.org/mesh/C562567 http://purl.obolibrary.org/obo/Orphanet_755 http://identifiers.org/medgen/449533 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/472787488 |
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| has_exact_synonym |
46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to LH resistance or LHB deficiency 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency Male pseudohermaphroditism due to LH resistance or LHB deficiency 46,XY DSD due to LH resistance or LHB deficiency Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency |
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| has_related_synonym |
Leydig cell agenesis Male hypergonadotropic hypogonadism due to LHCGR defect 46,XY disorder of sex development due to LH defects LH resistance due to LH receptor deactivation |
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| id |
MONDO:0019155 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
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| label |
Leydig cell hypoplasia |
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| notation |
MONDO:0019155 |
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| preferred label |
Leydig cell hypoplasia |
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| prefLabel |
Leydig cell hypoplasia |
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| subClassOf | ||
| excluded_subClassOf |