title: Absence of nonclassical congenital adrenal hyperplasia in patients with precocious adrenarche.
abstract: We studied 31 patients (28 girls and 3 boys), ranging in age from 3.2-7.9 yr, with precocious adrenarche defined by the presence of early sexual hair development, no signs of virilization, and bone age within +3 SD of the mean for chronological age. To determine if this symptom complex stemmed from any form of nonclassical (late-onset) congenital adrenal hyperplasia, an ACTH stimulation test was performed on each patient using a standard 0.25-mg dose of Cortrosyn, given as an iv bolus. Twelve pubertal children (7 girls and 5 boys) and 18 prepubertal children (11 girls and 7 boys) served as normal controls. Baseline and stimulated 17-hydroxypregnenolone (17-OHPreg), 17-hydroxyprogesterone, (17-OHP), 11-deoxycortisol, dehydroepiandrosterone, androstenedione, testosterone, and cortisol levels were measured. Using published nomogram standards for serum 17-OHP response to ACTH, no child with precocious adrenarche was diagnosed as having nonclassical 21-hydroxylase deficiency. Eight girls, however, had a stimulated 17-OHP value that exceeded the mean response for pubertal and prepubertal controls by more than +2 SD [range, 295-670 ng/dL (8.94-20.3 nmol/L)]. Stimulated 11-deoxycortisol values [less than 400 ng/dL (11.6 nmol/L)] ruled out any cases of nonclassical 11 beta-hydroxylase deficiency. No patient had nonclassical 3 beta-hydroxysteroid dehydrogenase deficiency, as defined by both the stimulated 17-OHPreg and the 17-OHPreg/17-OHP ratio to be more than +2 SD above the mean for pubertal children [1354 ng/dL (41.0 nmol/L) and 10.4, respectively]. In conclusion, we could not provide any biochemical evidence for nonclassical congenital adrenal hyperplasia in a large group of children with precocious adrenarche.
authors.affiliation: Department of Pediatrics, Baystate Medical Center, Springfield, Massachusetts 01199.
authors.forename: A H
authors.initials: AH
authors.lastname: Morris
authors.forename: E O
authors.initials: EO
authors.lastname: Reiter
authors.forename: M E
authors.initials: ME
authors.lastname: Geffner
authors.forename: B M
authors.initials: BM
authors.lastname: Lippe
authors.forename: R M
authors.initials: RM
authors.lastname: Itami
authors.forename: D M
authors.initials: DM
authors.lastname: Mayes
mesh_terms: D006907:17-alpha-Hydroxypregnenolone / Q000097:blood*; D019326:17-alpha-Hydroxyprogesterone; D000305:Adrenal Cortex Hormones / Q000097:blood*; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000175:diagnosis*; D000324:Adrenocorticotropic Hormone; D000728:Androgens / Q000097:blood*; D015415:Biomarkers / Q000097:blood*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood*; D008297:Male; D011629:Puberty, Precocious / Q000097:blood*
chemical_list: D000305:Adrenal Cortex Hormones; D000728:Androgens; D015415:Biomarkers; D006908:Hydroxyprogesterones; D006907:17-alpha-Hydroxypregnenolone; D019326:17-alpha-Hydroxyprogesterone; D000324:Adrenocorticotropic Hormone