Leite M V, Mendonça B B, Arnhold I J, Estefan V, Nunes C, Nicolau W, Bloise W
Gonadal and Intersex Unit, Hospital das Clinicas, University of Sao Paulo, School of Medicine, Brazil.
J Endocrinol Invest. 1991 Jan;14(1):11-5. doi: 10.1007/BF03350247.
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).
近期研究描述了青春期前阴毛早现患者存在轻度肾上腺酶缺陷。为了识别这些缺陷，我们评估了19名2至8.3岁青春期前阴毛早现（阴毛坦纳II - III期）女孩的基础及促肾上腺皮质激素（静脉注射25国际单位）刺激后的血清肾上腺类固醇水平。两名患者有阴蒂增大。10名患者骨龄中度超前，另外4名患者骨龄超前2至3.7岁。4名患者基础血清17 - 羟孕酮（17OHP）水平较高（525 + 202 ng/dl，均值±标准差），符合因21 - 羟化酶缺乏导致的非经典型先天性肾上腺皮质增生症（NCCAH - 21OH）的诊断，17OHP对促肾上腺皮质激素的反应增强（3425 ± 953 ng/dl）进一步证实了该诊断。15名患者基础17OHP水平中度升高（56 + 38 ng/dl），但对促肾上腺皮质激素的170HP反应正常（191 ± 71 ng/dl），符合特发性青春期前阴毛早现（IPP）的诊断。两组患者皮质醇对促肾上腺皮质激素的反应均正常。在NCCAH - 210H组和IPP组中，硫酸脱氢表雄酮（DHEA - S）的基础值分别为651 ± 256和506 + 462 ng/ml，脱氢表雄酮（DHEA）的基础值分别为380 ± 24 ng/dl和205 ± 102 ng/dl。我们得出以下结论：i）IPP的临床表现以及DHEA - S和DHEA的基线水平可能与迟发型21羟化酶缺乏难以区分；ii）17OHP的基线水平足以诊断NCCAH - 21OH；iii）仅当17OHP基线水平中度升高（100 - 300 ng/dl）时才需进行促肾上腺皮质激素刺激试验。
