Department of Pediatrics, Mehta Multispeciality Hospitals India Pvt Ltd, India.
Department of Pediatric Endocrinology, Mehta Multispeciality Hospitals India Pvt Ltd, India.
Pediatr Endocrinol Diabetes Metab. 2023;29(1):10-15. doi: 10.5114/pedm.2022.122547.
In view of the modifications in the endocrine society guidelines on evaluation and management of children with congenital adrenal hyperplasia (CAH), we performed a review of children and adolescents with CAH.
An audit of 35 children with CAH presenting to the pediatric endocrinology clinic between January 2014 to November 2021 was conducted by formulating ten audit questions. The areas of focus included: genital reconstructive surgery, neonatal screening for CAH, stress dosing, need for adrenocorticotrophic hormone (ACTH) stimulation test, growth promoting therapy, bone age assessment, adrenal imaging, bone mineral density assessment, adequacy of hormone replacement and appropriate management of non-classical CAH.
Conservative approach to genitoplasty in female children increased from 42.9% to 88.9%. Newborn screening identified 4 babies including two asymptomatic males averting saltwasting crisis. Stress dosing of steroids were advised in all and emergency usage of injectable glucocorticoids was warranted in two children. Gonadotropin-releasing hormone (GnRH) analogue therapy improved the final median predicted height by 7 cm in 5 children. Twenty-three (65.7%) had bone age assessment with 14 (40%) having advanced bone age. ACTH stimulation test, Adrenal imaging, dual energy X-ray absorptiometry (DEXA) scan were done in accordance with the guideline. One child with nonclassical CAH was initiated on hydrocortisone replacement for advanced bone age.
A shift to conservative surgical management of females, utility of neonatal screening for CAH, judicious use of growth promoting therapy is highlighted. Need for bone age testing, emergency hydrocortisone provision is warranted in our series.
鉴于内分泌学会关于先天性肾上腺增生症（CAH）儿童评估和管理指南的修改，我们对 CAH 患儿和青少年进行了回顾。
通过制定十个审核问题，对 2014 年 1 月至 2021 年 11 月期间在儿科内分泌科就诊的 35 例 CAH 儿童进行了审核。重点关注领域包括：生殖器重建手术、CAH 新生儿筛查、应激剂量、是否需要促肾上腺皮质激素（ACTH）刺激试验、生长促进治疗、骨龄评估、肾上腺成像、骨密度评估、激素替代的充分性以及非经典 CAH 的适当管理。
女性患儿生殖器整形术的保守治疗方法从 42.9%增加到 88.9%。新生儿筛查发现 4 例患儿，包括 2 例无症状男性，避免了盐耗竭危象。所有患儿均建议应激剂量类固醇，有 2 例患儿需要紧急使用注射用糖皮质激素。促性腺激素释放激素（GnRH）类似物治疗可使 5 例患儿的最终预测身高中位数增加 7 厘米。23 例（65.7%）进行了骨龄评估，其中 14 例（40%）骨龄提前。ACTH 刺激试验、肾上腺成像、双能 X 线吸收法（DEXA）扫描均按指南进行。1 例非经典 CAH 患儿因骨龄提前开始接受氢化可的松替代治疗。
强调了女性生殖器保守手术治疗、CAH 新生儿筛查的实用性以及生长促进治疗的合理应用。在我们的系列研究中，需要进行骨龄检测和紧急提供氢化可的松。
