A 6-mo-old female Chihuahua was presented with recurrent episodes of hypoglycemia and collapse. Physical examination revealed proportionate dwarfism, retained puppy hair coat, retained deciduous teeth, and open fontanelles. Routine blood tests revealed hypoglycemia, thrombocytosis, hypoproteinemia, and elevated alkaline phosphatase activity. The urinalysis, radiographs, and ultrasonographs were unremarkable. Endocrine testing revealed that insulin-like growth factor 1 was below the detection limit; concentrations of total thyroxine, baseline cortisol, and cortisol stimulated by tetracosactide acetate were within their reference intervals. The pituitary gland showed no organic abnormalities on magnetic resonance imaging. For definitive diagnosis, we conducted the stimulation test for growth hormone (GH) release and diagnosed isolated GH deficiency. Genetic investigation revealed that the present case had 4 point mutations in intronic regions and a 6-bp deletion in exon 5 of GH1. The bioinformatics tool PROVEAN algorithm predicted that the deletion in exon 5 could be deleterious to the function of GH1.

一名6个月大的女性奇瓦瓦州出现了反复出现的低血糖和虚脱现象。体格检查显示成比例的侏儒症，保留了幼犬的毛发外套，保留了乳齿，并开放了font门。常规血液检查显示血糖过低，血小板增多，蛋白过低和碱性磷酸酶活性升高。尿液分析，X光片和超声检查仪无异常。内分泌测试显示胰岛素样生长因子1低于检测极限；总甲状腺素，基线皮质醇和乙酸四乙内酯刺激的皮质醇的浓度在其参考区间内。垂体在磁共振成像中未发现器质异常。为了进行明确的诊断，我们进行了生长激素（GH）释放刺激试验，并诊断出孤立的GH缺乏症。GH1。生物信息学工具PROVEAN算法预测外显子5中的缺失可能对GH1的功能有害。