We describe three unrelated patients with adrenal insufficiency and RSH or Smith-Lemli-Opitz syndrome (SLOS), a disorder due to deficient synthesis of cholesterol. These patients presented with hyponatremia, hyperkalemia, and decreased aldosterone-to-renin ratio, which is a sensitive measure of the
Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome
โ Scribed by Nowaczyk, Ma?gorzata J.M. ;Siu, Victoria M. ;Krakowiak, Patrycja A. ;Porter, Forbes D.
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 71 KB
- Volume
- 103
- Category
- Article
- ISSN
- 0148-7299
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## Abstract We report on the hypothalamicโpituitaryโgonadal function in 2 male infants with the SmithโLemliโOpitz (SLO or RSH) syndrome. Both infants had abnormal external genitalia. Basal and LHRH stimulated plasma gonadotropins were normal for age (1 month). Plasma testosterone, androstenedione,
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by minor facial anomalies, mental retardation, and multiple congenital abnormalities. Biochemically, the disorder is caused by deficient activity of 7-dehydrocholesterol reductase, which catalyzes the reduction of the