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  • Title: [Biochemical diagnosis of Smith-Lemli-Opitz syndrome in a patient with congenital adrenal hyperplasia].
    Author: GarcíaFuentes E, icioso Recio MV, del Castillo Acedo Del Olmo E, atas Jurado MM, Arana Agüera M, López López J.
    Journal: An Esp Pediatr; 2000 Nov; 53(5):482-7. PubMed ID: 11141372.
    Abstract:
    AIM: Smith-Lemli-Opitz syndrome is an autosomal recessive disorder caused by 7 dehydrocholesterol D7 reductase deficiency that leads to serum cholesterol deficiency and accumulation of the cholesterol precursor, 7 dehydrocholesterol. We report a three-month-old boy with congenital adrenal hyperplasia and clinical diagnosis of this syndrome. This study was undertaken to confirm biochemically the clinical diagnosis of Smith-Lemli-Opitz syndrome. METHODS: Serum 7 dehydrocholesterol was determined in serum by ultraviolet spectroscopy (qualitatively) using a recently described simple and rapid method, and by gas chromatography (quantitatively). RESULTS: The ultraviolet spectroscopy assay detected serum 7 dehydrocholesterol. This result was confirmed by gas chromatography. Furthermore, the patient showed very low total cholesterol. CONCLUSIONS: The association between Smith-Lemli-Opitz syndrome and congenital adrenal hyperplasia has been reported in only a few cases. Our results suggest that clinical diagnosis of Smith-Lemli-Opitz syndrome can be biochemically confirmed by qualitative measurement of 7 dehydrocholesterol using ultraviolet spectroscopy.
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