Pseudovaginal Perineoscrotal Hypospadias Syndrome

This syndrome was already classified as an independent subtype of familial male pseudohermaphrodism and was named “pseudovaginal perineoscrotal hypospadias syndrome, (PPSH)” by Europian authors in the early 1900s, but it became officially recognized in 1961 after a review article published by Nowakowski & Lenz (Nowakowski 1961; Opitz et al. 1972). The syndrome was distinguished by the presence of ambiguous external genitalia (perineoscrotal hypospadias, bifid scrotum, micropenis, and blind vaginal pouch), normal-appearing testes with Wolffian duct derivatives (epididymis and vas deferens), absence of Mullerian duct derivatives (absence of uterus and cervix), and striking masculinization at puberty with minimal gynecomastia (Opitz et al. 1972; Simpson et al. 1971).