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male pseudohermaphroditism

Wednesday 15 December 2004

Male pseudohermaphroditism defines a heterogeneous group of intersex conditions that are characterized by an intrauterine state of relative functional androgen deficiency, an apparently normal 46,XY karyotype, and either identifi able testes or evidence that testes were present during fetal development.

Male pseudohermaphroditism (see also 46,XY DSD) may manifest as a female phenotype with various degrees of undervirilization secondary to partial androgen insensitivity. The external genitalia are usually female or ambiguous, although in certain categories (e.g., testicular regression syndrome) they may appear as phenotypically male.

The responsible defect may be in the gonad, leading to deficiency in androgens, deficiency in müllerian inhibiting substance (MIS), or both.

Alternatively, end-organ defects in which developing tissues are unresponsive to androgens or MIS may lead to the abnormal phenotype.

Etiology (Examples)

- XY primary gonadal defects

  • testicular regression syndrome
  • Leydig cell deficiency
  • defects in testosterone synthesis (testosterone biogenesis anomalies)
    • defect in cholesterol synthesis (cholesterol biogenesis anomalies)
      • Smith–Lemli–Opitz syndrome
    • congenital lipoid adrenal hyperplasia
    • congenital adrenal hyperplasia
  • defect in müllerian inhibiting system (persistent müllerian duct syndrome)

- end-organ defects

  • androgen receptor disorders (androgen insentitivity syndromes)
    • complete androgen receptor insufficiency (CAI syndrome or complete testicular
    • partial androgen receptor insufficiency (incomplete testicular
    • Reifenstein syndrome
    • infertile male syndrome
    • undervirilized male syndrome
  • 5α-Reductase type 2 deficiency

- chromosomal diseases

  • trisomy 22

- WT1 germline mutations

  • Denys-Drash syndrome
  • Frasier disease

See also

- intersex diseases