Congenital dyshormonogenic hypothyroidism with goiter, SLC5A5-related(CHG)
Also known as: Congenital Hypothyroidism with Goiter · SLC5A5 hypothyroidism · Dyshormonogenic Goiter · Congenital Goiter · Hypothyroidism, congenital dyshormonogenic, with goiter, SLC5A5-related · …
Overview
What it is
This is an inherited disorder of the thyroid gland, which is responsible for regulating the body's metabolism. A genetic defect in the SLC5A5 gene prevents the thyroid from absorbing iodine, an essential building block for thyroid hormones. Without these hormones, the body's metabolic processes slow down, and the thyroid gland enlarges in an attempt to compensate, forming a visible swelling called a goiter.
How it presents
Symptoms typically become noticeable between the second and fourth week of life. Owners may observe stunted growth, extreme lethargy, delayed mental development, and a palpable or visible swelling in the neck area.
Treatment
While the condition is not curable, it is highly manageable with lifelong daily thyroid hormone replacement therapy. Regular veterinary blood tests are required to monitor hormone levels, with lifetime management costs typically ranging from €1,500 to €4,000.
How it's tested
Kongenitale Hypothyreose (CHG) DNA-Test(CHG)
Primary testDNA testDer DNA-Test identifiziert die ursächliche Mutation im TPO-Gen, die für die kongenitale Hypothyreose mit Kropfbildung bei der Französischen Bulldogge verantwortlich ist.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Congenital dyshormonogenic hypothyroidism with goiter, SLC5A5-related?
This is an inherited disorder of the thyroid gland, which is responsible for regulating the body's metabolism. A genetic defect in the SLC5A5 gene prevents the thyroid from absorbing iodine, an essential building block for thyroid hormones. Without these hormones, the body's metabolic processes slow down, and the thyroid gland enlarges in an attempt to compensate, forming a visible swelling called a goiter.
How is Congenital dyshormonogenic hypothyroidism with goiter, SLC5A5-related tested?
Tests currently in our database: Kongenitale Hypothyreose (CHG) DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.