Pseudovaginal perineoscrotal hypospadias: genetic heterogeneity.
Defects in either the production or the action of androgenic steroids have been demonstrated to cause pseudovaginal perineoscrotal hypospadias, a syndrome of male hermaphoditism. The ability to make a rapid, specific biochemical diagnosis in an infant with this syndrome, and thus to predict the infant's response to androgens, could be a valuable aid in the assignment of sex to an infant with ambiguous external genitalia.
D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000172:deficiency; D000293:Adolescent; D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000201:enzymology / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D012734:Disorders of Sex Development / Q000201:enzymology / Q000235:genetics; D005260:Female; D006177:Gynecomastia / Q000235:genetics; D006801:Humans; D007021:Hypospadias / Q000201:enzymology / Q000235:genetics*; D007223:Infant; D008297:Male; D009634:Noonan Syndrome / Q000235:genetics; D011627:Puberty; D013577:Syndrome; D014770:Virilism / Q000235:genetics
D015067:17-Hydroxysteroid Dehydrogenases; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase