Pseudohermaphroditism by Ray Sahelian, M.D.

Definition: One that possesses the internal reproductive organs of one sex while exhibiting some of the external physical characteristics of the opposite sex.

Female Pseudohermaphroditism

Pseudohermaphroditism : a condition in which the gonads are of one sex but one or more contradictions exist in the morphologic criteria of sex; female pseudohermaphroditism is a form in which the affected individual is a genetic and gonadal female with partial masculinization. Most female pseudohermaphrodites, whether XX or XY, who are assigned and reared as girls evolve a feminine core gender identity and primarily are heterosexual.

Male Pseudohermaphroditism

Male pseudohermaphroditism is a form in which the affected individual is a genetic and gonadal male with incomplete masculinization. Male pseudohermaphrodites are genetic males (45,XY) who develop female configurations and identities. The gonads are testes, but the genital ducts and external genitalia are female. Secondary sex characteristics may never appear in some patients, while others may achieve a fully feminized physique. Male pseudohermaphroditism is rare.

5alpha-reductase deficiency in male pseudohermaphroditism

The description of 5alpha-reductase deficiency in male pseudohermaphroditism, characterization of type-1 and type-2 isoenzymes of 5alpha-reductase, and development of 4-aza steroid competitive inhibitors of 5alpha-reductase were milestones in the development of 5alpha-reductase inhibitors, a class of drugs approved for the treatment of symptomatic benign prostatic hyperplasia (BPH).