## 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,
โฆ LIBER โฆ
Gonadal function in Smith-Lemli-Opitz syndrome
โ Scribed by Lacombe, Didier ;Battin, J.
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 71 KB
- Volume
- 45
- Category
- Article
- ISSN
- 0148-7299
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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