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Hereditary thyroglossal duct cysts

J H Greinwald1, L G Leichtman, E J Simko

  • 1Department of Otolaryngology, Eastern Virginia Medical School, Norfolk, USA.

Archives of Otolaryngology--Head & Neck Surgery
|October 1, 1996
PubMed
Summary
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Hereditary thyroglossal duct cysts (TGDCs) predominantly affect females and often follow an autosomal dominant inheritance pattern. Presentation age and sex distribution vary significantly between US and international cases.

Area of Science:

  • Genetics and Molecular Biology
  • Pediatric Surgery
  • Epidemiology

Background:

  • Thyroglossal duct cysts (TGDCs) are congenital anomalies with a known, though infrequently reported, hereditary component.
  • Understanding the epidemiological and clinical features of hereditary TGDCs is crucial for accurate diagnosis and management.

Observation:

  • A literature review identified 18 hereditary TGDC cases across 6 families, with 11 reported in the US.
  • Three new cases from the institution were added, totaling 14 US cases.
  • US hereditary TGDC cases were predominantly female (100%), presenting at a mean age of 6.1 years, with an autosomal dominant inheritance pattern.

Findings:

  • International hereditary TGDC cases (n=7) showed a lower female prevalence (29%) and a later mean age of presentation (16.2 years).

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  • Autosomal dominant inheritance was observed in 2 of 3 international families.
  • Patients with autosomal dominant inheritance were older (13.9 years) than those with autosomal recessive inheritance (6.2 years).

    • Implications:

    • Hereditary TGDCs exhibit distinct epidemiological characteristics, particularly a female predominance and autosomal dominant inheritance in US populations.
    • Genetic imprinting may explain the observed sexual bias.
    • Recurrence rates after the Sistrunk procedure for hereditary TGDCs are comparable to nonhereditary cases, suggesting similar surgical outcomes.