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Isolated growth hormone deficiency in a Chihuahua with a GH1 mutation
Aki Iio1, Shingo Maeda1, Tomohiro Yonezawa1
1Department of Veterinary Clinical Pathobiology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Bunkyo-ku, Tokyo, Japan.
Insights
A 6-month-old Chihuahua with hypoglycemia and dwarfism was diagnosed with isolated growth hormone (GH) deficiency. Genetic analysis revealed mutations in the GH1 gene, confirming the cause of the canine endocrine disorder.
Area of Science:
- Veterinary Medicine
- Endocrinology
- Canine Genetics
Background:
- Hypoglycemia and dwarfism in young dogs can indicate endocrine dysfunction.
- Growth hormone (GH) deficiency is a rare but serious condition affecting canine development.
- Early diagnosis is crucial for managing metabolic and growth abnormalities.
Observation:
- A 6-month-old Chihuahua presented with recurrent hypoglycemia, collapse, proportionate dwarfism, and retained puppy features.
- Blood tests showed hypoglycemia, thrombocytosis, hypoproteinemia, and elevated alkaline phosphatase.
- Endocrine tests ruled out other common hormonal imbalances, with insulin-like growth factor 1 below detection limits.
Findings:
- Magnetic resonance imaging excluded pituitary abnormalities.
- A growth hormone (GH) stimulation test confirmed isolated GH deficiency.
- Genetic analysis identified four intronic point mutations and a 6-bp deletion in exon 5 of the GH1 gene, predicted to be deleterious.
Implications:
- This case highlights the importance of comprehensive endocrine and genetic testing in young dogs with growth and metabolic issues.
- Understanding the genetic basis of canine GH deficiency can aid in diagnosis and potential future therapeutic strategies.
- The identified GH1 mutations provide valuable insights into the molecular mechanisms of canine endocrine diseases.
Abstract:
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.
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