Male Pseudo-hermaphroditism Karyotype Gonad Genitalia Clinical/Notes/treatment Complete androgen resistance syndrome (testicular feminisation) 46XY testes (UDT) female female external organs, short vagina, no uterus, breasts at puberty, gonad cancer risk. Due to defective end-organ response. Incomplete androgen resistance syndrome (incomplete testicular feminisation) 46XY testes (UDT) ambig. small phallus, variable labioscrotal fusion and virilisation, gynaecomastia. Due to defective end-organ response. Testosterone biosynthetic defects (e.g. 17-ketosteroid reductase deficiency) 46XY testes (UDT)
ambig. male internal organs, severe hypospadias, short blind vagina, variable virilisation at puberty, variable breast development. 5-Alpha reductase deficiency (Dominican republic) 46XY testes ambig. virilise at puberty. Failure to convert T to DHT in androgen sensitive cells. Hernia Uteri Inguinale (persistant mullerian structures) 46XY testes (UDT) male normal phallus, uterus and tubes (may be inguinal hernia), poor sperm and hormone production, gonad cancer risk. Can be familial. Presumed failure of MIF production. Rare.