Identification of enzyme deficiencies resulting in congenital adrenal hyperplasia.
Selective screening for congenital adrenal hyperplasia (CAH) by blood spot 17-hydroxyprogesterone measurements is a practical option than can yield valuable clinical information and more accurate estimate of incidence. Simultaneous investigation of serum and urinary steroids allows detection of late-onset types of CAH.
Sólyom
J
J
2nd Department of Pediatrics, Semmelweis Medical University, Budapest.
D006907:17-alpha-Hydroxypregnenolone / Q000097:blood; D019326:17-alpha-Hydroxyprogesterone; D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000209:etiology*; D002648:Child; D005260:Female; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood; D007231:Infant, Newborn; D014770:Virilism / Q000097:blood / Q000209:etiology
D006908:Hydroxyprogesterones; D006907:17-alpha-Hydroxypregnenolone; D019326:17-alpha-Hydroxyprogesterone; D015096:3-Hydroxysteroid Dehydrogenases