Abstract
To determine if plasma desoxycortisol (Compound S-Cmpd S) basal and ACTH-stimulated response levels allow identification of patients with mild 11-hydroxylase deficiency, this hormone has been measured in the following 4 groups of subjects: (1) females presenting with premature pubarche or hirsutism in adolescence; (2) subjects who are heterozygotic carriers or have mild 11-hydroxylase deficiency based on kindred studies; (3) normal females, post menarchial and follicular phase; (4) 10 females known to be heterozygotic carriers of 21-hydroxylase deficiency.
Seven of the females with excessive hair for age (1) had Cmpd S responses greater than normal controls (3), but within the range of those with evidence of compromised 11 OHase (2) or 21 OHase (4) action. Five of these seven had basal levels greater than Group 4. These patients could have mild 11-hydroxylase deficiency.
(Supported in part by Endocrine Sciences, Tarzana, CA)
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Lee, P., Lanes, R. & Urban, M. POSSIBLE 11-HYDROXYLASE DEFICIENCY ADRENAL HYPERPLASIA AMONG VIRILIZED YOUNG FEMALES. Pediatr Res 18 (Suppl 4), 170 (1984). https://doi.org/10.1203/00006450-198404001-00462
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DOI: https://doi.org/10.1203/00006450-198404001-00462