Testicular agenesis

Description

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.

Index terms

Testicular agenesis

Exclusions from above levels

5A71 – pseudohermaphroditism: female, with adrenocortical disorder
http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

LD2A.0 – Ovotesticular disorder of sex development
LD2A.1 – 46,XY gonadal dysgenesis
LD2A.3 – 46,XY disorder of sex development due to a defect in testosterone metabolism
LD2A.4 – 46,XY disorder of sex development due to androgen resistance
LD2A.Y – Other specified malformative disorders of sex development
LD2A.Z – Malformative disorders of sex development, unspecified

Foundation entity

Testicular agenesis – http://id.who.int/icd/entity/1382370664

Part of: LD2A: Malformative disorders of sex development › 20: Developmental anomalies