title: Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome.
abstract: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by mutations in the 7-dehydrocholesterol reductase gene, DHCR7. The diagnosis is based on the biochemical findings of elevated plasma 7-dehydrocholesterol (7DHC) levels. Adrenal insufficiency with hyponatremia has been reported in 3 patients with severe SLOS; in those cases it was thought to be caused by aldosterone deficiency because it responded to mineralocorticoid replacement. We present a fourth patient with a severe form of SLOS and adrenal insufficiency who had unexplained persistent hypertension, a combination of signs that has not been reported previously in SLOS.
authors.affiliation: Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada. nowaczyk@hhsc.ca
authors.forename: M J
authors.initials: MJ
authors.lastname: Nowaczyk
authors.forename: V M
authors.initials: VM
authors.lastname: Siu
authors.forename: P A
authors.initials: PA
authors.lastname: Krakowiak
authors.forename: F D
authors.initials: FD
authors.lastname: Porter
mesh_terms: D000309:Adrenal Insufficiency / Q000151:congenital*; D002784:Cholesterol / Q000097:blood; D003684:Dehydrocholesterols / Q000097:blood; D006801:Humans; D006973:Hypertension / Q000151:congenital*; D007231:Infant, Newborn; D008297:Male; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis*
chemical_list: D003684:Dehydrocholesterols; D002784:Cholesterol