XXXX --etiology, diagnosis, and therapy.

@entity1 @entity172 @entity251 @entity4998 @entity248 @entity16438 @entity2650 @entity1420 @entity15511 @entity342 @entity444 @entity165
@entity1 with @entity4998 stand a far better chance of receiving a rapid diagnosis, appropriate replacement therapy, and functional surgical reconstruction than was the case even a decade ago. Although the etiologies of true @entity4998 and mixed @entity444 remain elusive, most gene defects in female @entity4998 or CAH have been pinpointed to the 21-hydroxylase gene. Incomplete masculinization has been found to be due to defects in the @entity342 receptor, 5 alpha-reductase, or enzymes in the pathway from @entity165 to @entity251 . @entity16438 point mutations have been implicated in 46XY pure @entity444 . Retained m  llerian ducts have been attributed to point mutations in the @entity248 gene; those with normal @entity248 levels should be expected to have receptor deficits. In utero diagnoses and treatment and diagnosis at the preimplantation stage may prove to be very important for the care of some of these @entity1 , who may be potential candidates for gene replacement therapy. When necessary, surgical reconstruction can be done. If the @entity1 is to be raised as a female, clitoral recession, labioscrotal reductions and advancements, and vaginoplasties for exteriorization can be accomplished in early infancy as an extensive one-stage procedure. If @entity1 are to be raised as males, then various types of @entity2650 repair can be done, gonads can be replaced with prostheses, the @entity15511 can be reconstructed, and m  llerian structures can be removed with the goal of preserving the vas deferens. Replacement therapy with glucocorticoids and mineralocorticoids must be precisely managed to permit proper growth, and @entity251 , @entity172 , and @entity1420 replacement must be carefully considered and managed. A most important element in the care of these @entity1 is the psychological support that first the families and then the @entity1 require. This must be delivered with sensitivity. The proper care of these complex @entity1 requires that the physician be a scientist as well as a clinician and a skilled technician.
