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
✦ LIBER ✦
Adrenal function in Smith–Lemli–Opitz syndrome
✍ Scribed by Simona E. Bianconi; Sandra K. Conley; Meg F. Keil; Ninet Sinaii; Kristina I. Rother; Forbes D. Porter; Constantine A. Stratakis
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 137 KB
- Volume
- 155
- Category
- Article
- ISSN
- 1552-4825
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We reviewed 215 patients (59 new, 156 from the literature) with Smith-Lemli-Opitz syndrome (SLOS), and found that 95 (44%) had a cardiovascular malformation (CVM). Classifying CVMs by disordered embryonic mechanisms, there were 5 (5.3%) class I (ectomesenchymal tissue migration abnormalities), 56 (5