Details of Disease
General Information of Disease (ID: DIS9AZZT)
| Disease Name | Leydig cell hypoplasia | |||||
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| Synonyms |
LH resistance due to LH receptor deactivation; 46,XY disorder of sex development due to LH defects; Leydig cell agenesis; Male hypergonadotropic hypogonadism due to LHCGR defect; 46,XY DSD due to LH resistance or LHB deficiency; Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency; Male pseudohermaphroditism due to LH resistance or LHB deficiency; 46,XY disorder of sex development due to LH resistance or LHB deficiency; 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency; 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
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| 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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Molecular Interaction Atlas (MIA) of This Disease
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This Disease Is Related to 1 DTT Molecule(s)
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