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一只携带LHX3突变的白色瑞士牧羊犬的垂体性侏儒症和促肾上腺皮质激素缺乏症

Pituitary Dwarfism and Adrenocorticotropic Hormone Deficiency in a White Swiss Shepherd Dog With LHX3 Mutation.

作者信息

Schils Gaëlle, Stammeleer Lisa, Daminet Sylvie

机构信息

Small Animal Department, Ghent University, Ghent, Belgium.

Small Animal Department, Liege University, Liège, Belgium.

出版信息

J Vet Intern Med. 2025 Sep-Oct;39(5):e70193. doi: 10.1111/jvim.70193.

Abstract

LHX3 mutation in dogs is associated with combined pituitary hormone deficiency. However, ACTH secretion is usually preserved. A 9-week-old female White Swiss Shepherd dog presented with growth retardation and was diagnosed with pituitary dwarfism due to LHX3 mutation. In the 2 years after diagnosis, the dog developed persistent lymphocytosis and eosinophilia. Endogenous ACTH measurement, ACTH stimulation test, and CRH stimulation test confirmed pituitary hypocortisolism. The dog was administered physiological doses of prednisolone, with improvement of activity levels. These findings are similar to scarce human reports and suggest that corticotrope function might decline over time in dogs with LHX3 mutations. Awareness and screening for ACTH deficiency in dwarf dogs is important in light of compatible clinical signs and laboratory abnormalities, as treatment with glucocorticoids improves the quality of life of these dogs.

摘要

犬类中的LHX3突变与垂体激素联合缺乏有关。然而,促肾上腺皮质激素(ACTH)分泌通常得以保留。一只9周龄的雌性瑞士白牧羊犬出现生长发育迟缓,经诊断因LHX3突变患有垂体性侏儒症。在诊断后的2年里,这只犬出现持续性淋巴细胞增多和嗜酸性粒细胞增多。内源性ACTH测定、ACTH刺激试验和促肾上腺皮质激素释放激素(CRH)刺激试验证实存在垂体性皮质醇增多症。给这只犬给予生理剂量的泼尼松龙后,其活动水平有所改善。这些发现与罕见的人类报告相似,提示LHX3突变犬的促肾上腺皮质激素细胞功能可能会随时间推移而下降。鉴于有相符的临床症状和实验室异常情况,对侏儒犬的ACTH缺乏进行识别和筛查很重要,因为用糖皮质激素治疗可改善这些犬的生活质量。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ed6/12365990/06b7f7822efe/JVIM-39-e70193-g002.jpg

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