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• W2080874900 abstract "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 renin-aldosterone axis. All patients had profound serum total cholesterol deficiency (14–31 mg/dl) and marked elevation of 7-dehydrocholesterol (10–45 mg/dl). Two patients were newborn infants with 46, XY karyotypes and complete failure to masculinize; one of these patients also had cortisol deficiency. Both patients died within 10 days of birth of cardiopulmonary complications while on adrenal replacement therapy. The third patient diagnosed with SLOS at birth presented at age 7months with fever and diarrhea and was noted to have profound hyponatremia. This patient is maintaining normal serum electrolytes on mineralocorticoid replacement. We conclude that adrenal insufficiency may be a previously undetected and treatable manifestation in SLOS. We hypothesize that deficiency of cholesterol, an adrenal hormone precursor, may lead to insufficient synthesis of adrenal steroid hormones. Am. J. Med. Genet. 82:382–384, 1999. © 1999 Wiley-Liss, Inc." @default.
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• W2080874900 date "1999-02-19" @default.
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• W2080874900 title "Adrenal insufficiency in Smith-Lemli-Opitz syndrome" @default.
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• W2080874900 doi "https://doi.org/10.1002/(sici)1096-8628(19990219)82:5<382::aid-ajmg5>3.0.co;2-9" @default.
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