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REBECCA T. KIRKLAND, JOHN L. KIRKLAND, CURTIS M. JOHNSON, MARJORIE G. HORNING, LEON LIBRIK, GEORGE W. CLAYTON, Congenital Lipoid Adrenal Hyperplasia in an Eight-Year-Old Phenotypic Female, The Journal of Clinical Endocrinology & Metabolism, Volume 36, Issue 3, 1 March 1973, Pages 488–496, https://doi.org/10.1210/jcem-36-3-488
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Abstract
Congenital lipoid adrenal hyperplasia (CLAH) was described as an invariably fatal disease in infancy manifested by severe adrenal insufficiency with lack of differentiation of the external genitalia in males. A genetic defect in cholesterol desmolase was postulated to be the site of the enzymatic block. However, Degenhart et al. demonstrated by in vitro studies that the defect may be in the cholesterol 20-hydroxylase enzyme. Urinary studies of an 8-yr-old phenotypic female with severe adrenal insufficiency who was found to have bilateral testes were performed with corticotropin stimulation. Analysis of the urines by gas chromatograph-mass spectrometer revealed elevated cholesterol excretion and the absence of additional sterols. The 17-hydroxycorticosteroids were 0; 17-ketosteroids ranged from 0.3 to 0.6 mg per 24 hr. The presence of some 17-ketosteroids suggests that an alternate pathway from cholesterol to dehydroepiandrosterone without formation of C-21 compounds may exist. The absence of urinary cholesterol metabolites suggest that the defect in CLAH may be in the conversion of cholesterol to 20α-hydroxycholesterol.
