Reifenstein's syndrome is the term now applied to forms of incomplete male pseudohermaphroditism ΓÇô Reifenstein's syndrome, GilbertΓÇôDreyfus syndrome, Lubs syndrome ΓÇô that were originally assumed to be distinct entities. These syndromes constitute variable manifestations of mutations of the androgen-receptor gene.
The most common phenotype is an undervirilised man with gynaecomastia and perineoscrotal hypospadias (Fig. 11.33), but the spectrum of defective virilisation ranges from men with azoospermia to phenotypic women with pseudovaginas. Axillary and pubic hair are normal, but chest and facial hair are minimal. Cryptorchidism is common, the testes are small, azoospermia is usual, and the vas deferens may be absent or hyperplastic.
