Familial thyroglossal duct cyst

What causes familial thyroglossal duct cysts?

Thyroglossal duct cysts (TDCs) are caused by abnormal development and migration of the cells forming the thyroid gland between the 4th and 8th week of fetal development. The thyroglossal duct is the area in which the cells that form the thyroid gland migrate during fetal development. It typically closes off and dissolves before birth, but may remain open in some individuals. When the thyroglossal duct fails to dissolve completely, a cyst (fluid filled sac) may form. It is not clear why occurs in some individuals. While most cases are sporadic; there are reports of at least six families in which TDC appear to be hereditary. The underlying genetic cause of familial TDC is not known.

Last updated on 05-01-20

Can thyroglossal duct cysts cause weight loss?

Weight loss is not commonly cited as a symptom of thyroglossal duct cysts, however large cysts can cause difficulty swallowing and breathing. Infected cysts may be tender with associated difficulty in swallowing, loss of voice, fever, and increasing mass size. Some patients with an infected cyst experience drainage which can result in a foul taste in the mouth. These symptoms may make feedings difficult and unpleasant.

We recommend you speak with your child’s healthcare provider regarding his specific symptoms.

Last updated on 05-01-20

Is my young child suitable for surgery? Are there other treatment options I could consider?

The Information Center can not make recommendations for medical management. Only your child's health care provider can help you make these decisions. Factors that you and your child's provider may consider when deciding on treatment, include your child's age, overall health, and medical history, the extent of the condition, your child's tolerance for specific medications, procedures, or therapies, expectations for the course of the condition, and your opinion or preference.

Last updated on 05-01-20

How common is familial thyroglossal duct cyst?

Thyroglossal duct cysts (TDC) are the most common congenital midline neck mass. Thyroglossal duct remnants occur in approximately 7% of the population, although only a minority of them ever cause symptoms. Familial TDC is more rare. Based on limited case reports published in the medical literature, approximately 21 patients from 7 families have been identified with familial TDC.

Last updated on 05-01-20

How might familial thyroglossal duct cyst be treated?

Surgical excision is the treatment of choice for uncomplicated thyroglossal duct cysts. The Sistrunk procedure is typically performed, which can reduce the risk of recurrence. This involves removing the cyst as well as a portion of the hyoid bone (small bone in the upper neck) and some tongue tissue. Researchers are looking into the efficacy of ethanol sclerotherapy, in which ethanol, a type of alcohol, is injected into the cyst. While results are promising, surgery remains the primary treatment method.

Last updated on 05-01-20

Where To Start

Children's Hospital Boston cysts of the head

Children's Hospital Boston has an information page on thyroglossal duct cyst. Click on Children's Hospital Boston to view this information page.

Last updated on 04-27-20

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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