[Biochemical diagnosis of Smith-Lemli-Opitz syndrome in a patient with congenital adrenal hyperplasia].
OBJECTIVE
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.
GarcíaFuentes
E
E
Servicios de Laboratorio. Hospital MaternoInfantil. Málaga.
icioso Recio MV
del Castillo Acedo Del Olmo E
atas Jurado MM
Arana Agüera M
López López J
D000312:Adrenal Hyperplasia, Congenital / Q000150:complications*; D002784:Cholesterol / Q000097:blood; D002849:Chromatography, Gas; D003684:Dehydrocholesterols / Q000097:blood*; D006801:Humans; D007223:Infant; D008297:Male; D019082:Smith-Lemli-Opitz Syndrome / Q000097:blood / Q000175:diagnosis*; D013056:Spectrophotometry, Ultraviolet
D003684:Dehydrocholesterols; D002784:Cholesterol; C016705:7-dehydrocholesterol