Testicular agenesis (Q49824)
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A rare 46,XY disorder of gonadal development characterized by congenital complete absence of testicular tissue in an individual with an otherwise male phenotype and normal karyotype. In addition, a small penis is a frequent finding in anorchid patients. Typical hormonal characteristics are elevated basal levels of gonadotropins (especially FSH (follicle-stimulating hormone), low concentration of testosterone, and lack of increase of plasma testosterone in response to hCG (human chorionic gonadotropin) administration. The GnRH (gonadotropin-releasing hormone) stimulation test induces a prolonged increase in FSH and LH (luteinizing hormone) levels.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD2A.2 |
||
| English | Testicular agenesis |
A rare 46,XY disorder of gonadal development characterized by congenital complete absence of testicular tissue in an individual with an otherwise male phenotype and normal karyotype. In addition, a small penis is a frequent finding in anorchid patients. Typical hormonal characteristics are elevated basal levels of gonadotropins (especially FSH (follicle-stimulating hormone), low concentration of testosterone, and lack of increase of plasma testosterone in response to hCG (human chorionic gonadotropin) administration. The GnRH (gonadotropin-releasing hormone) stimulation test induces a prolonged increase in FSH and LH (luteinizing hormone) levels. |
Statements
CID11:LD2A.2
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dki-india-LD2A.2
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Concluído
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13 August 2026
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