Posted on by Dhruvi Patel
This post is based on the recent webinar by Dr. Schweiger on “Thyroid Disorders in Turner Syndrome.” It briefly highlights the two common thyroid-related autoimmune conditions, hypothyroidism and hyperthyroidism, that greatly affect the Turner Syndrome community—hypothyroidism and hyperthyroidism.
Note: The information in this post is educational. It does not replace medical advice from your doctor(s). Always consult with a medical professional regarding any specific health concerns.
Generally, Turner syndrome (TS) increases the risk of developing autoimmune disorders. The genetic basis of this is unknown, but we do see a decrease in the CD4/CD8 lymphocyte ratio in the individuals. Developing an autoimmune disorder can have important implications. For instance, an autoimmune disorder such as Hashimoto’s thyroiditis often leads to hypothyroidism and is most common among individuals with TS. As per Dr. Schweiger, the lifetime increased risk for thyroiditis among individuals with TS is approximately 30 percent.
In Hashimoto’s thyroiditis, the thyroid is attacked by the antibodies (thyroid peroxidase antibodies) by mistake. This is because the immune system becomes overactive and mistakes healthy body tissues as foreign and attacks them. Eventually, the gland would not be able to produce thyroid hormones that leads to hypothyroidism. Though whole process can take years to develop as a person has thyroiditis for about 10 years on average before they finally receive diagnoses.
Other autoimmune disease associated with TS include hyperthyroidism, celiac disease, type I diabetes, alopecia areata, and juvenile rheumatoid arthritis. In this article, we will primarily focus on hypothyroidism and hyperthyroidism associated with autoimmune thyroid disease that are reported to be higher among individuals with TS.
Hypothyroidism is a condition in which your body does not produce enough thyroid hormones. In girls with TS, the natural course of hypothyroidism is usually more severe than general population. So, they require continued monitoring of their thyroid function from 4 years of age onwards. Dr. Schweiger notes that the TS Study Group Consensus suggests a screen for the thyroid dysfunctions for all girls at diagnosis of TS. They should also undergo annual measurements of free T4 and TSH from early childhood and throughout life-span.
If you or your child is experiencing multiple symptoms or signs above, respectively, it is important to check with your medical provider to take necessary preventative measures. Additionally, it is important to monitor thyroid function especially if the child is not growing at a normal rate. Common test for hypothyroidism includes checking TSH, free T4, and microsomal antibodies level.
One of the common treatment for hyperthyroidism is levothyroxine, which is given at low dose, about 0.025-0.05 mg daily at first. TSH level is monitored every 4-6 weeks, and the levothyroxine medication is increased in 0.0125 mg increments until the TSH level become normal. TSH level normally monitored every 6 months in kids and once a year in adults. Dr. Schweiger notes that it is better to take levothyroxine medication on empty stomach because it helps with the issue of absorption, and one of the options is to take it at bed time.
Hyperthyroidism occurs when thyroid glands produces too much thyroxine hormone due to overstimulation. Graves’ disease is a common autoimmune disorder that causes this overproduction.
The evaluation of hyperthyroidism includes the documentation of free T4 and TSH level as well as determining the cause through thyroid stimulating immunoglobin (TSI) test and radioactive iodide uptake scan. TSI are antibodies that tells your body to produce more thyroid hormone. TSI test measures the level of TSI or thyroid stimulating immunoglobin. In radioactive iodine uptake scan, the radioactive iodine is first taken up by the thyroid gland. The amount of iodine that is taken up by the gland is then measured for a given time period as a part of the test.
Hyperthyroidism treatment uses anti-thyroid medication. If the blood pressure gets high or if heart rate increases due to the medication, the patients are given beta blockers to get back to normal blood pressure and heart rate. Usually, the treatment is given for 18-24 months, and the patient is monitored to see if the condition goes away. If the condition goes away, patient can continue off the medication. If it does not go away or for any reason the patient is unable to take the medication, there are two definitive therapy options—near-total thyroidectomy (to remove the thyroid gland) and radioiodine ablation (to destroy thyroid tissue).
Note that Propylthiouracil (PTU) is no longer used because there is an increased risk of liver injury including liver failure and death in pediatric patients.
This article was written by Dhruvi Patel, TSF Volunteer Blog Writer and edited by Ruchika Srivastava, TSF Volunteer Blog Editor.
Category: Clinical Resource, Latest Articles, Parent/Caregiver, Patient, Patient Resource Tags: Health, TS Resources
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