Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents

Steroids. 1985 Oct-Nov;46(4-5):827-43. doi: 10.1016/0039-128x(85)90032-7.


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.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • 17-alpha-Hydroxyprogesterone
  • Abnormalities, Multiple / physiopathology*
  • Adrenocorticotropic Hormone / pharmacology
  • Female
  • Growth Disorders / physiopathology
  • Humans
  • Hydroxyprogesterones / metabolism
  • Infant
  • Infant, Newborn
  • Intellectual Disability / physiopathology
  • Male
  • Pedigree
  • Radioimmunoassay
  • Steroids / metabolism*
  • Syndrome


  • Hydroxyprogesterones
  • Steroids
  • 17-alpha-Hydroxyprogesterone
  • Adrenocorticotropic Hormone