Unusual Presentations of Hypothyroidism in Children

1. Unusual Presentations of Hypothyroidism in Children Shannon Huelsman April 12, 2007

2. Thyroid Axis Hypothalmus produces TRH. TRH stimulates the anterior pituitary, which releases TSH. TSH stimulates the Thyroid gland, which produces and releases thyroxine (T4) and triiodothyronine (T3). Classifications Primary= Dysfunction of the Thyroid gland Secondary= Dysfunction of the Pituitary Tertiary= Dysfunction at the Hypothalmus level Hypothyroidism: A decrease in T3 and T4

3. Hypothyroidism: Facts • Primary hypothyroidism manifests as congenital, autoimmune thyroiditis (Hashimoto’s), or as a result of surgery, radiation, drugs, and toxins. • Hypothyroidism affects 11 million adults and children. • 1 in 4,000 infants have congenital hypothyroidism that is not due to iodine insufficiency. • 1.2% of all school-aged children have autoimmune thyroiditis. • 2 out of every 3 people with hypothyroidism are unaware of their disease status.

4. Hypothyroidism- Unusual Presentations • Finding the Zebra’s!

5. Hypothyroidism and Renal Failure • Multiple case reports have shown: • Children presenting with signs of renal failure (Elevated serum creatinine, decreased glomerular filtration rates) • Lab studies reviled that the children had elevated TSH and low T3 and T4. • The children were then placed on thyroxine therapy (Synthroid) • Thyroid function returned to normal • Serum creatinine levels and glomerular filtration rates also returned to normal. • Study Results: • Untreated primary hypothyroidism in children is associated with a 40% reduction in renal function.

6. Hypothyroidism, Vaginal Bleeding, and Ovarian Cysts • Case reports have described: • Young children presenting with cyclic vaginal bleeding and breast development without any pubic hair (a condition known as precocious puberty), as well as delayed bone age. • Ultrasounds showed at least one (if not many) ovarian cysts. • Lab studies reviled increased TSH and decreased T4. • The children were placed on thyroxine therapy, and within 3-6 months all symptoms were gone and the cysts were undetectable on ultrasound.

7. Well established connection exist between hypothyroidism and T1DM, however, many cases are sub-clinical in nature. Thus there is a need for different types of testing. Studies have suggested measuring: Hypothyroidism and Type 1 Diabetes Mellitus • 1- Thyroid Autoantiboties • One study reported that young diabetes have a higher prevelance of thyroid autoantibody than healthy controls. The occurrence of autoantibodies in patients with T1DM has been reported from 3-50%. • As a screening tool: 67% Positive predictive value and a 90% negative predictive value. • 2- Thyroid Peroxidase: • One study suggests that T1DM patients presenting with thyroid peroxidase antibodies have an increased risk of developing thyroid dysfunction • Another study claims that if only thyroid peroxidase is used, up to 28% of subclinical cases would be missed.

8. So why is this important??? • Low thyroid levels can hinder and alter normal childhood development due to the direct and indirect processes of the hypothalamus-pituitary-thyroid axis. • Proper diagnosis of declining renal function and subsequent treatment leads to improvement of symptoms, it also allowed the children in question to be spared the rigors of renal failure treatment. • In the case of ovarian cysts in precocious puberty, the recognition of hypothyroidism as the primary cause prevents surgical intervention. • The link between autoimmune thyroid antibodies and the eventual development of autoimmune hypothyroidism allows providers to initiate treatment as soon as problems occur (which may at a sub-clinical level). • Bottom line: A proper diagnosis lead to improvement in symptoms, it will also prevent unnecessary medical treatment, surgery, and expenses

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11. Any Questions???