Klinefelter Syndrome with Karyotype 47,xxy, Regular
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Isolated Congenital Gonadotropin Deficiency
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Klinefelter Syndrome Karyotype 47, Xxy
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Other Specified Klinefelter Syndrome
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Klinefelter Syndrome, Unspecified
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Klinefelter Syndrome in Males
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Klinefelter Syndrome Nos
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Klinefelters Syndrome
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47,xxy Syndrome
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Hypogonadism
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47, Xxy
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypogonadotropic hypogonadism (HH) is a condition caused by issues in the hypothalamus or pituitary gland, affecting the hypothalamic-pituitary-gonadal axis (HPG axis). It results from a deficiency in the release of gonadotropic releasing hormone (GnRH) or gonadotropins. GnRH is crucial for reproductive function and sexual development, acting on the anterior pituitary to release LH and FSH, which then act on the gonads. This leads to the secretion of sex steroids and the initiation of folliculogenesis and spermatogenesis. HH is associated with impaired signaling by GnRH. Klinefelter syndrome (KS) is a genetic condition where males have an extra X chromosome, leading to infertility and small testicles. It can affect physical, language, and social development, causing primary testicular insufficiency due to reduced testosterone production. Individuals with KS may have subtle physical changes like increased height, and may experience delays in speech and language development. They are at risk for learning disabilities, anxiety, depression, and metabolic syndrome. KS is a chromosomal duplication syndrome that affects male development and can have various physical and cognitive effects depending on the number of extra X chromosomes present.
Phenotype Information Associated with the Current Disease:
Categorization: Anatomical classification of the disease manifestations.
HPO Frequency/Orphanet Frequency: Indicates the probability of the manifestation occurring in the current disease, allowing sorting by probability.
HPO Source Accession: Links to HPO for detailed manifestation information.
Data Source: HPO, Orphanet
Gene & Mutation
Genes and Mutations Associated with the Current Disease:
Function: Primary biological roles of the genes.
Score: Indicates the strength of the association between the disease and the gene, with higher scores reflecting stronger associations.
Count: Number of mutations associated with the disease-gene pair. The number in parentheses represents the total data points linked to the same ClinVar ID. Clicking the number reveals mutation details.
Data Source: Clinvar
Related Drugs
Drugs Related to the Current Gene, Displaying CAS Number, Status and Phase.
Data Source: Clinical Trials
Related Mouse Models
Mouse Models Related to the Current Gene. Click on the model name to view detailed information.
Data Source: MGI, Cyagen
References Literature
Most Relevant Literature for the Current Gene, Filterable by Year, Article Type, and Sortable by Impact Factor.