Testicular agenesis (Q49824): Difference between revisions

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13 August 2026
Timestamp+2026-08-13T00:00:00Z
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CalendarGregorian
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Latest revision as of 20:18, 13 August 2026

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
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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.

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      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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