A newborn with ambiguous genitalia and a 46,XY karyotype develops vomiting, low serum sodium concentration, and high serum potassium. Which of the following proteins is most likely to be abnormal?
Sex steroids are synthesized from cholesterol by side chain cleavage (employing a P450 enzyme) to produce pregnenolone.Pregnenolone is then conveed to testosterone in the testis, to estrogen in the ovary, and to coicosterone and aldosterone in the adrenal gland. The enzymes 3b-hydroxysteroid dehydrogenase, 21-hydroxylase, 11b-hydroxylase, and 18-hydroxylase modify pregnenolone to produce other sex and adrenal steroids. Deficiencies in adrenal 21-hydoxylase can thus lead to inadequate testosterone production in males and produce ambiguous external genitalia. Such children can also exhibit low sodium and high potassium due to deficiency of the more distal steroids, coisol and aldosterone. 5a-reductase conves testosterone to dihydrotestosterone, and its deficiency produces milder degrees of hypogenitalism without salt wasting. Deficiency of the androgen receptor is called testicular feminization, producing normal-looking females who may not seek medical attention until they present with infeility.
21-hydroxylase
An ovarian enzyme
5a-reductase
An androgen receptor