Brunelli V L, Chiumello G, David M, Forest M G
Department of Pediatrics, Scientific Institute H. S. Raffaele, University of Milan, Italy.
Clin Endocrinol (Oxf). 1995 May;42(5):461-6. doi: 10.1111/j.1365-2265.1995.tb02663.x.
There have been few studies of adrenarche in patients with congenital adrenal hyperplasia (CAH). We have therefore sought to detect the onset of adrenarche in CAH patients and to investigate whether its evolution was influenced by the severity of the disease, the age at the onset of substitution therapy, or both.
Sixteen female CAH patients were studied longitudinally for 4-11 years. They were all given substitution therapy and treatments were well controlled as judged by repeated hormonal evaluations. The patients were divided into two groups: group A consisted of 10 girls with a severe classic (congenital) form, while group B included 6 girls presenting with a non-classic form.
Circulating levels of dehydroepiandrosterone sulphate (DHEAS), were determined as an indicator of adrenarche. Hormonal assessments included measurements of 17-hydroxyprogesterone (17-OHP), testosterone, ACTH and plasma renin activity. All were estimated by conventional specific assays.
Mean levels were analysed in consecutive two-year age periods. In group A, DHEAS levels were significantly lower at any age than in control subjects, and lower than in patients with non-classic CAH. DHEAS levels showed no increment with age. In group B, plasma DHEAS levels were surprisingly high for the age at the time of diagnosis, declining gradually on substitution therapy, although they remained somewhat higher than in group A.
The high DHEAS levels observed in untreated girls of group B are probably the result of chronic hypersecretion of ACTH. Under well controlled, non-suppressive substitution therapy, patients with congenital adrenal hyperplasia showed no rise in DHEAS levels at the physiological age of adrenarche whatever the degree of the enzyme defect and whatever the age at onset of therapy.
关于先天性肾上腺皮质增生症（CAH）患者肾上腺初现的研究较少。因此，我们试图检测CAH患者肾上腺初现的开始，并研究其进展是否受疾病严重程度、替代治疗开始年龄或两者的影响。
对16例女性CAH患者进行了4至11年的纵向研究。他们均接受了替代治疗，根据重复的激素评估判断，治疗得到了良好控制。患者分为两组：A组由10名患有严重经典（先天性）形式的女孩组成，而B组包括6名呈现非经典形式的女孩。
测定硫酸脱氢表雄酮（DHEAS）的循环水平作为肾上腺初现的指标。激素评估包括测量17-羟孕酮（17-OHP）、睾酮、促肾上腺皮质激素（ACTH）和血浆肾素活性。所有这些均通过传统的特异性测定法进行估计。
对连续两年的年龄段分析平均水平。在A组中，任何年龄的DHEAS水平均显著低于对照组，且低于非经典CAH患者。DHEAS水平未随年龄增加。在B组中，诊断时血浆DHEAS水平对于该年龄而言出奇地高，在替代治疗时逐渐下降，尽管仍略高于A组。
在未经治疗的B组女孩中观察到的高DHEAS水平可能是ACTH慢性分泌过多的结果。在良好控制的、非抑制性替代治疗下，先天性肾上腺皮质增生症患者无论酶缺陷程度如何以及治疗开始年龄如何，在肾上腺初现的生理年龄时DHEAS水平均未升高。
