Self-Assessment Questions

26. Abnormalities of male sexual differentiation and development

• Define male pseudohermaphroditism and name two biochemical defects that lead to male pseudohermaphroditism.

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  Correct answer:
  An individual with male pseudohermaphroditism will possess testes but in the presence of external and/or internal genitalia with a female phenotype. Therefore, gonadal sex does not match genital phenotype. This is due to biochemical defects in androgen activity or by the presence of an abnormal sex chromosome constitution. Two examples of biochemical defects leading to male pseudohermaphroditism include androgen insensitivity syndromes and 5α-reductase deficiency.