title: Identification of nonclassical 21-hydroxylase deficiency in girls with precocious pubarche.
abstract: Recent studies have described mild adrenal enzymatic defects in patients presenting with precocious pubarche. In order to identify these defects we have evaluated basal and ACTH- (25 IU iv) stimulated serum adrenal steroid levels in 19 girls, 2- to 8.3-year-old, with precocius pubarche (pubic hair Tanner II-III). Two patients had clitorial enlargement. Bone age was moderatly advanced in 10 patients and 2 to 3.7 yr in four others. Four patients had high basal serum levels of 17-hydroxyprogesterone (17OHP) (525 + 202 ng/dl, mean +SD), compatible with the diagnosis of nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCCAH-21OH), which was confirmed by an increased response of 17OHP to ACTH (3425 +/- 953 ng/dl). Fifteen patients had moderately elevated basal 17OHP levels (56 + 38 ng/dl) but a normal 170HP response (191 +/- 71 ng/dl) to ACTH, compatible with the diagnosis of idiopathic precocious pubarche (IPP). The cortisol response to ACTH was normal in both groups. Basal values of DHEA-S were 651 +/- 256 and 506 + 462 ng/ml and of DHEA 380 +/- 24 ng/dl and 205 +/- 102 ng/dl, in NCCAH-210H and IPP, respectively. We conclude that: i) clinical findings and baseline levels of DHEA-S and DHEA in IPP can be indistinguishable from the late onset 21 hydroxylase deficiency; ii) baseline levels of 17OHP are sufficient for the diagnosis of NCCAH-21OH; iii) the ACTH stimulation test is indicated only when baseline levels of 17OHP are moderately elevated (100-300 ng/dl).
authors.affiliation: Gonadal and Intersex Unit, Hospital das Clinicas, University of Sao Paulo, School of Medicine, Brazil.
authors.forename: M V
authors.initials: MV
authors.lastname: Leite
authors.forename: B B
authors.initials: BB
authors.lastname: Mendonça
authors.forename: I J
authors.initials: IJ
authors.lastname: Arnhold
authors.forename: V
authors.initials: V
authors.lastname: Estefan
authors.forename: C
authors.initials: C
authors.lastname: Nunes
authors.forename: W
authors.initials: W
authors.lastname: Nicolau
authors.forename: W
authors.initials: W
authors.lastname: Bloise
mesh_terms: D019326:17-alpha-Hydroxyprogesterone; D000312:Adrenal Hyperplasia, Congenital; D000309:Adrenal Insufficiency / Q000201:enzymology*; D000324:Adrenocorticotropic Hormone / Q000097:blood; D002648:Child; D002675:Child, Preschool; D003687:Dehydroepiandrosterone / Q000097:blood; D005260:Female; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood; D011629:Puberty, Precocious / Q000201:enzymology*
chemical_list: D006908:Hydroxyprogesterones; D003687:Dehydroepiandrosterone; D019326:17-alpha-Hydroxyprogesterone; D000324:Adrenocorticotropic Hormone