Binder Gerhard, Schweizer Roland, Blumenstock Gunnar, Ferrand Nawfel
Pediatric Endocrinology, University Children's Hospital, 72076 Tübingen, Germany.
Department of Clinical Epidemiology and Applied Biometry, University of Tübingen, 72076 Tübingen, Germany.
J Clin Endocrinol Metab. 2017 Nov 1;102(11):4100-4108. doi: 10.1210/jc.2017-00874.
Premature adrenarche has been reported to be frequent in Silver-Russell syndrome (SRS), but systematic studies are lacking. Here, we studied the prevalence of early adrenarche in SRS, potential predictors, and consequences based on cases with long-term follow-up.
This retrospective longitudinal single-center study included 62 patients with SRS (34 boys) with documented age at adrenarche and positive Netchine-Harbison clinical score who were seen during the past 20 years with a median follow-up of 12.8 years. Clinical and biochemical characteristics were collected from patient records. Adrenarche was defined by reaching a serum dehydroepiandrosterone concentration >500 ng/mL.
Boys reached adrenarche at a median age of 9.2 years (quartiles: 7.6, 10.9 years) and pubarche at a median age of 11.7 years (quartiles: 10.7, 12.8 years). Girls reached adrenarche at a median age of 8.1 years (quartiles: 6.6, 10.1 years) and pubarche at a median age of 9.8 years (quartiles: 8.3, 10.8). Premature adrenarche occurred in 13% of the patients. Multiple linear regression analysis revealed that early adrenarche was associated with early initiation of recombinant human growth hormone (rhGH) treatment (P = 0.0024 in boys; P = 0.0195 in girls), but not with the Netchine-Harbison clinical score (P > 0.25). Response to rhGH treatment (median dose, 50 µg/kg/d) and adult height (n = 43) were not compromised by early adrenarche.
Early or premature adrenarche was more frequent in SRS than in the general population and was associated with early age at initiation of rhGH treatment. Response to rhGH treatment and adult height were not compromised by early adrenarche.
据报道，肾上腺初现过早（早熟）在Silver-Russell综合征（SRS）中很常见，但缺乏系统性研究。在此，我们基于长期随访的病例，研究了SRS中肾上腺初现过早的患病率、潜在预测因素及后果。
这项回顾性纵向单中心研究纳入了62例SRS患者（34例男性），这些患者有记录的肾上腺初现年龄且Netchine-Harbison临床评分呈阳性，他们在过去20年中接受了观察，中位随访时间为12.8年。从患者病历中收集临床和生化特征。肾上腺初现的定义为血清脱氢表雄酮浓度>500 ng/mL。
男性肾上腺初现的中位年龄为9.2岁（四分位数间距：7.6，10.9岁），阴毛初现的中位年龄为11.7岁（四分位数间距：10.7，12.8岁）。女性肾上腺初现的中位年龄为8.1岁（四分位数间距：6.6，10.1岁），阴毛初现的中位年龄为9.8岁（四分位数间距：8.3，10.8岁）。13%的患者出现肾上腺初现过早。多元线性回归分析显示，肾上腺初现过早与重组人生长激素（rhGH）治疗的早期开始有关（男性P = 0.0024；女性P = 0.0195），但与Netchine-Harbison临床评分无关（P>0.25）。肾上腺初现过早并未影响对rhGH治疗的反应（中位剂量，5μg/kg/d）及成人身高（n = 43）。
SRS患者中肾上腺初现过早或早熟比一般人群更常见，且与rhGH治疗开始的年龄较早有关。肾上腺初现过早并未影响对rhGH治疗的反应及成人身高。
