Jang Min Jeong, Ahn Moon Bae
Department of Pediatrics, College of Medicine, The Catholic University of Korea, 222 Banpo-daero, Seocho-gu, Seoul 06591, Korea.
Children (Basel). 2022 Apr 12;9(4):547. doi: 10.3390/children9040547.
Fibroblast growth factor receptors (s) are expressed in epiphyseal cartilage cells of developing bones and regulate endochondral bone formation with interdependent signaling pathways. Gene mutation in s disrupts the formation of endochondral bony structure by reducing the number of proliferating chondrocytes. Among the syndromes caused by mutation in the gene, Pfeiffer syndrome is a rare inherited disease characterized by acrocephalosyndactyly related to hypertelorism, broad pollex, and hallux. We describe the case of a 4-year-old girl with short stature, advanced bone age, wide thumbs and great toes. The patient was diagnosed with partial growth hormone deficiency and an identified mutation in the gene. Standard deviation score of her height increased after starting growth hormone therapy. This report will raise awareness of the growth hormone provocation test regardless of bone age in patients with short stature founded gene mutation.
成纤维细胞生长因子受体在发育中骨骼的骨骺软骨细胞中表达，并通过相互依存的信号通路调节软骨内骨形成。该受体的基因突变通过减少增殖软骨细胞的数量破坏软骨内骨结构的形成。在由该基因突变引起的综合征中， Pfeiffer综合征是一种罕见的遗传性疾病，其特征为尖头并指（趾）畸形，伴有眼距过宽、拇指粗大及拇趾粗大。我们描述了一名4岁女童的病例，她身材矮小、骨龄超前、拇指和大脚趾宽大。该患者被诊断为部分生长激素缺乏症，并在该基因中发现了突变。开始生长激素治疗后，她身高的标准差评分有所增加。本报告将提高对身材矮小且存在该基因突变患者进行生长激素激发试验时不受骨龄影响的认识。
