Loechner Karen J, Patel Shipra, Fordham Lynne, McLaughlin James T
Division of Pediatric Endocrinology, University of North Carolina, Chapel Hill, NC, USA.
J Pediatr Endocrinol Metab. 2010 Jan-Feb;23(1-2):179-87. doi: 10.1515/jpem.2010.23.1-2.179.
CAH, most often due to a molecular defect in the 21-OH enzyme, results in inadequate cortisol production and subsequent life-long GC replacement.
To heighten awareness for risk of GIO in children with CAH including (1) ongoing assessment of GC dosing, (2) screening for bone health, and (3) prophylactic measures/early intervention once GIO is identified.
23 year-old male with 21OHD CAH referred for osteopenia.
Chart review; radiological, serological and urine assessment.
Patient has old vertebral compression fractures and diminished BMD, the onset of which likely corresponds to excessive GC dosing during adolescence.
As with other GC-dependent conditions, children with CAH may represent a previously unrecognized population at risk for GIO. Physicians need to be cognizant of the consequences of excessive GC dosing on bone health, especially during infancy and adolescence, critical periods for both linear growth as well as bone accretion.
先天性肾上腺皮质增生症(CAH),多数情况下是由于21-羟化酶的分子缺陷,导致皮质醇分泌不足,进而需要终身进行糖皮质激素(GC)替代治疗。
提高对CAH患儿发生糖皮质激素诱导的骨质疏松症(GIO)风险的认识,包括(1)持续评估GC剂量,(2)筛查骨骼健康状况,以及(3)一旦确诊GIO,采取预防措施/早期干预。
一名23岁男性,因21-羟化酶缺乏型CAH前来就诊,诊断为骨质减少。
病历审查;影像学、血清学和尿液评估。
患者有陈旧性椎体压缩性骨折,骨密度降低,其发病可能与青春期GC剂量过高有关。
与其他依赖GC的疾病一样,CAH患儿可能是一个此前未被认识到的GIO风险人群。医生需要认识到GC剂量过高对骨骼健康的影响,尤其是在婴儿期和青春期,这两个时期对线性生长和骨量增加都至关重要。