Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents.
In early infancy, two unrelated children with Smith-Lemli-Opitz syndrome were found to have elevated levels of androgen sulfates. When the steroid conjugates in the serum of normal infants were hydrolyzed and chromatographed on Sephadex LH-20, 4 androgen containing peaks (I, II, III, IV) were found. In the serum from these two infants with Smith-Lemli-Opitz syndrome, Peaks I and III were increased, but Peaks II and IV were absent. The parents of the two children, and of three additional unrelated children with Smith-Lemli-Opitz syndrome, had exaggerated 17-hydroxyprogesterone responses to an intravenous bolus of ACTH. These findings suggest that a defect in steroid metabolism may be linked to the Smith-Lemli-Opitz syndrome.
D019326:17-alpha-Hydroxyprogesterone; D000015:Abnormalities, Multiple / Q000503:physiopathology*; D000324:Adrenocorticotropic Hormone / Q000494:pharmacology; D005260:Female; D006130:Growth Disorders / Q000503:physiopathology; D006801:Humans; D006908:Hydroxyprogesterones / Q000378:metabolism; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000503:physiopathology; D008297:Male; D010375:Pedigree; D011863:Radioimmunoassay; D013256:Steroids / Q000378:metabolism*; D013577:Syndrome
D006908:Hydroxyprogesterones; D013256:Steroids; D019326:17-alpha-Hydroxyprogesterone; D000324:Adrenocorticotropic Hormone