Testicular agenesis

Definition

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.

Also indexed as

Nearby in Malformative disorders of sex development

• LD2A.0Ovotesticular disorder of sex development
• LD2A.146,XY gonadal dysgenesis
• LD2A.346,XY disorder of sex development due to a defect in testosterone metabolism
• LD2A.446,XY disorder of sex development due to androgen resistance
• 4B4YOther specified diseases of the immune system
• 4B4ZDiseases of the immune system, unspecified