Consequently, the secretion of both desoxycorticosterone and corticosterone is greatly elevated, causing hypertension and hypokalemia. Treatment with Lipoid Adrenal Hyperplasia. The androgen receptor in this condition is either absent or unable to bind androgen or transduce the androgenic signal to target genes. XY women with androgen insensitivity syndrome are phenotypically female, with female external genitalia, a short blind-ending vagina, and The diagnosis frequently is made in infancy or childhood because most girls with CAIS have bilateral inguinal hernias containing testes. Alternatively, the girl may seek help in adolescence when menstruation does not occur despite normal breast development.
Pubic hair is either completely absent or very sparse.
In most cases, a mutation in the coding region of the gene for the AR can be demonstrated, and extensive structure-function studies have been carried out. Similar to all steroid receptors, the AR is a ligand-dependent transcription factor. Patients can be normal males or somewhat eunuchoid with gynecomastia. Mullerian structures are absent. If an infant has a phallus that is intermediate in size between a normal penis and a normal clitoris, an aberrantly located urethral opening, and at least one impalpable gonad, the term ambiguous genitalia may be used.