A Case of Functional Growth Hormone Deficiency and Early Growth Retardation in a Child With IFT172 Mutations
A Case of Functional Growth Hormone Deficiency and Early Growth Retardation in a Child With IFT172 Mutations
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DOI：
10.1210/jc.2014-3852
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发表时间：
2015-04-01
影响因子：
5.8
通讯作者：
Ahmed, S. Faisal
中科院分区：
文献类型：
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作者：
Lucas-Herald, Angela K.;Kinning, Esther;Ahmed, S. Faisal
背景：纤毛病是一组具有多种表现形式的罕见疾病。鉴于身材矮小和生长迟缓的儿童中 GH/IGF-I 轴缺陷相对常见，纤毛病与这些缺陷之间的关联需要进一步关注。 病例：我们的患者是一名早产男孩，注意到在生命的前 18 个月内出现早期生长迟缓和体重增加。生化测试表明，IGF-I 较低，但刺激后 GH 峰值正常，并且施用重组人生长激素 (rhGH) 后 IGF-I 适当增加。磁共振成像扫描显示垂体发育不全和异位垂体后叶。 rhGH 治疗对他的生长反应良好。随后，他还出现了视杆细胞和视锥细胞视网膜病变、干骺端发育不良、高血压和肾功能衰竭，需要肾脏替代治疗。全外显子组测序显示 IFT172 存在复合杂合突变，因此与纤毛病一致。结论：这是首例报告的 IFT172 突变儿童病例，该病例在儿童早期出现生长迟缓，最初被视为对 rhGH 治疗有反应的功能性 GH 缺乏症病例。该病例强调了纤毛功能在垂体发育中的重要性以及早发性生长障碍与纤毛病之间的联系。
Context: Ciliopathies are a group of rare conditions that present through a wide range of manifestations. Given the relative common occurrence of defects of the GH/IGF-I axis in children with short stature and growth retardation, the association between ciliopathies and these defects needs further attention.Case: Our patient is a boy who was born atterm and noted to have early growth retardation and weight gain within the first 18 months of life. Biochemical tests demonstrated low IGF-I but a normal peak GH on stimulation and an adequate increase in IGF-I on administration of recombinant human growth hormone (rhGH). A magnetic resonance imaging scan revealed pituitary hypoplasia and an ectopic posterior pituitary. His growth responded well to rhGH therapy. Subsequently he also developed a retinopathy of his rods and cones, metaphyseal dysplasia, and hypertension with renal failure requiring renal replacement therapy. Whole-exome sequencing demonstrated compound heterozygous mutations of IFT172, thus consistent with a ciliopathy.Conclusions: This is the first reported case of a child with a mutation in IFT172 who presented with growth retardation in early childhood and was initially managed as a case of functional GH deficiency that responded to rhGH therapy. This case highlights the importance of ciliary function in pituitary development and the link between early onset growth failure and ciliopathies.