Debor Belana, Bechtold-Dalla Pozza Susanne, Reisch Nicole, Schmidt Heinrich, Dubinski Ilja
Division of Pediatric Endocrinology and Diabetology, Dr. von Hauner Children's Hospital, University Hospital Munich, LMU Munich, Munich, Germany.
Department of Medicine IV, University Hospital, LMU Munich, Munich, Germany.
J Pediatr Endocrinol Metab. 2023 Aug 31;36(10):930-940. doi: 10.1515/jpem-2023-0169. Print 2023 Oct 26.
Children with classical congenital adrenal hyperplasia (CAH) require glucocorticoid (GC) substitution due to impaired cortisol synthesis. To avoid over- or undertreatment, one has to consider auxology as well as biochemical parameters for adrenal derived steroids like androstenedione (A4) and 17-hydroxyprogesterone (17-OHP). There are no established reference values for A4 and 17-OHP in CAH.
We performed a retrospective study in 53 prepubertal patients with CAH. Datasets of patients were included if the plasma A4 values of the respective clinical visit were under the limit of quantification. Related 17-OHP values were extracted as well as height/length, weight, dose of hydrocortisone, HC regimen, bone age and stages of pubertal development.
Median hydrocortisone doses were in most observations within the recommended reference ranges. Hydrocortisone has a significant negative influence on 17-OHP values and HSDS. Age has a positive significant influence on 17-OHP, BMI-SDS, and HSDS. Median height standard-deviation-score (HSDS) was beneath 0 at all times, but showed an increasing trend in both sexes. Median body mass index standard-deviation-score (BMI-SDS) was above 0 at all times and showed an increasing trend as well.
With guideline-compliant doses of hydrocortisone, suppression of A4 at the respective time of day is possible in prepubertal children. Although HC has a significant negative influence on HSDS, increasing values for HSDS and HC are observed with increasing age. Thus, A4 suppression at the respective time point does not hinder regular growth. An increase in body mass index can already be observed as early as in prepuberty.
经典型先天性肾上腺皮质增生症(CAH)患儿因皮质醇合成受损需要糖皮质激素(GC)替代治疗。为避免治疗过度或不足,必须综合考虑生长发育指标以及肾上腺源性类固醇如雄烯二酮(A4)和17-羟孕酮(17-OHP)的生化参数。CAH中A4和17-OHP尚无既定的参考值。
我们对53例青春期前CAH患者进行了一项回顾性研究。纳入各次临床就诊时血浆A4值低于定量限的患者数据集。提取相关的17-OHP值以及身高/身长、体重、氢化可的松剂量、HC治疗方案、骨龄和青春期发育阶段。
在大多数观察中,氢化可的松的中位剂量在推荐参考范围内。氢化可的松对17-OHP值和身高标准差评分(HSDS)有显著负面影响。年龄对17-OHP、体重指数标准差评分(BMI-SDS)和HSDS有显著正向影响。中位身高标准差评分(HSDS)始终低于0,但在两性中均呈上升趋势。中位体重指数标准差评分(BMI-SDS)始终高于0,也呈上升趋势。
对于青春期前儿童,使用符合指南剂量的氢化可的松,在一天中的特定时间抑制A4是可行的。尽管HC对HSDS有显著负面影响,但随着年龄增长,HSDS和HC值均升高。因此,在特定时间点抑制A4并不妨碍正常生长。早在青春期前就能观察到体重指数增加。