Pseudohermaphroditism

Pseudohermaphroditism is an historical medical term used to describe a person whose gonads are of one sex but whose external genitalia or internal ducts are characteristic of the opposite sex. It contrasts with true hermaphroditism (ovotesticular DSD), in which both ovarian and testicular tissue are present. In modern practice the term is largely replaced by disorders of sex development (DSD) or intersex conditions, with emphasis on individualized care and nonjudgmental terminology.

Male pseudohermaphroditism refers to individuals with testes but external genitalia that are female or ambiguous. Common causes include androgen insensitivity syndrome (AIS), 5-alpha-reductase deficiency, and gonadal dysgenesis. In AIS, a 46,XY individual has testes and normal or elevated testosterone but tissues are unresponsive to androgens, producing predominantly female external anatomy with undescended testes and typically no uterus.

Female pseudohermaphroditism refers to individuals with ovaries but masculinized external genitalia or features. This most often occurs in 46,XX individuals with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, which causes excess androgen exposure during fetal life, leading to virilization of the external genitalia while internal female structures (uterus and ovaries) are present. Other less common causes include certain androgen-secreting tumors or aromatase deficiency.

Diagnosis generally involves clinical assessment, karyotyping, imaging, and hormonal testing. Management is multidisciplinary and tailored to the underlying condition, addressing pubertal development, psychosocial needs, genital appearance and function, and fertility considerations. The term pseudohermaphroditism is now used less frequently, in favor of DSD or intersex terminology that centers patient welfare and informed decision-making.