pseudohermaphroditismXY

Pseudohermaphroditism is a historical medical term used to describe individuals who have gonadal tissue of one sex but external genitalia or secondary sexual characteristics of the opposite sex, or discordant with the gonadal sex. The term is largely obsolete in modern medicine and has been replaced by disorders of sex development (DSD), reflecting a move toward neutral terminology and patient-centered care.

Historically, pseudohermaphroditism is divided into male pseudohermaphroditism and female pseudohermaphroditism. Male pseudohermaphroditism refers to individuals who have testes but external genitalia that are predominantly female or ambiguous. Female pseudohermaphroditism refers to individuals who have ovaries but external genitalia that are masculinized or ambiguous.

Common etiologies include congenital adrenal hyperplasia in 46,XX individuals, which can virilize external genitalia, and in 46,XY individuals, conditions such as 5-alpha-reductase deficiency or partial androgen insensitivity, which can lead to discordant genital development. Androgen insensitivity syndrome and other gonadal dysgeneses are related conditions that are more often discussed within the broader DSD framework. Diagnosis typically involves physical examination, karyotyping, imaging to locate gonads, and hormonal assays for androgens, estrogens, and adrenal steroids.

Management is multidisciplinary, involving endocrinology, urology, psychology, and genetics. Care aims to optimize health, preserve function where possible, and support the patient in decisions about gender identity and potential surgical interventions. Modern guidelines emphasize informed consent and, when possible, deferring irreversible procedures until the individual can participate in decision-making.

Note: contemporary terminology favors disorders of sex development (DSD) over pseudohermaphroditism.