A case of isolated growth hormone deficiency type IA (IGHD IA) caused by novel compound heterozygous mutation in the GH1 gene was reported in this study, which aimed to provide insights that will benefit future diagnosis and treatment. We analyzed and summarized the clinical data and genetic test results from a patient with IGHD admitted in March 2019 to the Department of Pediatrics Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology. We described the results from a 1-year-9-months old female, whose chief complaint was “growth retardation for more than one year”. Her birth length was 49.0 cm, and her birth weight was 3.05 kg. Suboptimal intake (breastfeeding) jaundice lasted for approximately two months following birth. When evaluated at the age of 1-year-9-months old, the patient’s height was 61.0 cm (− 7.24 SD), and her weight was 6.4 kg (− 1.50 SD). The patient’s physical characteristics included yellowish hair, large and unclosed anterior fontanelles, raised forehead, and a low and flat nose. The major abnormalities observed from the auxiliary examinations included low GH (< 0.05 μg/l), low IGF-1 (16.99 μg/l), and elevated TSH (6.97 mIU/l). Genetic testing revealed two heterozygous variants: a splicing mutation (NG_011676.1(NM_022560.4): c.10 + 1G>T, inherited from her mother) in intron 1 of the GH1 gene and a deletion that encompassed the same gene (chr17: 61973811–61996255, inherited from her father). After hormone replacement therapy with L-thyroxine and recombinant human GH (rhGH), the patient’s thyroid function returned to normal, and her serum IGF-1 level significantly improved, which resulted in an accelerated increase in height. This study described a case of IGHD caused by novel compound heterozygous mutations in the GH1 gene. This study suggested that closer attention should be directed to genetic testing and diagnosis based on clinical characteristics to avoid misdiagnosis.

中文翻译：

---

新型 GH1 变异导致 IA 型孤立性生长激素缺乏症：病例报告


本研究报告了一例由GH1基因新型复合杂合突变引起的IA型孤立性生长激素缺乏症（IGHD IA）病例，旨在为今后的诊断和治疗提供参考。我们对2019年3月华中科技大学同济医学院附属同济医院儿科收治的1例IGHD患者的临床资料和基因检测结果进行分析和总结。我们描述了一名 1 岁 9 个月大的女性的结果，其主诉是“生长迟缓一年多”。她的出生身长为49.0厘米，出生体重为3.05公斤。摄入量欠佳（母乳喂养）黄疸在出生后持续约两个月。在1岁零9个月时进行评估时，患者身高为61.0厘米（− 7.24 SD），体重为6.4 kg（− 1.50 SD）。患者的身体特征包括淡黄色头发、前囟大且未闭合、前额凸起、鼻子低而扁。辅助检查观察到的主要异常包括 GH 低（< 0.05 μg/l）、IGF-1 低（16.99 μg/l）和 TSH 升高（6.97 mIU/l）。基因测试揭示了两个杂合变异：GH1 基因内含子 1 中的剪接突变 (NG_011676.1(NM_022560.4): c.10 + 1G>T，遗传自她的母亲）和包含相同基因的缺失 (chr17) ：61973811–61996255，继承自她的父亲）。经过L-甲状腺素和重组人生长激素（rhGH）激素替代治疗后，患者甲状腺功能恢复正常，血清IGF-1水平明显改善，身高加速增加。 这项研究描述了 GH1 基因中新型复合杂合突变引起的 IGHD 病例。本研究建议应更加重视基因检测和根据临床特征进行诊断，以避免误诊。