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Thyroid Function in Children with Down Syndrome in the Polish Population: A Case-Control Study.

Beata Zelazowska-Rutkowska1, Anna Jakubiuk-Tomaszuk2, Bogdan Cylwik1

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Children with Down syndrome frequently exhibit abnormal thyroid function, with nearly half showing altered thyroid profiles. Early screening for thyroid dysfunction is recommended for all Down syndrome patients due to higher prevalence.

Keywords:
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Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Clinical Diagnostics

Background:

  • Subclinical thyroid disease often lacks overt symptoms, necessitating laboratory diagnosis.
  • Children with Down syndrome represent a population at higher risk for thyroid dysfunction.
  • Understanding thyroid function patterns in this group is crucial for early intervention.

Purpose of the Study:

  • To determine the prevalence and patterns of thyroid function abnormalities in Polish children with Down syndrome.
  • To compare thyroid function parameters between children with Down syndrome and a healthy control group.

Main Methods:

  • Study included 30 children (aged 6-12 years) with confirmed Down syndrome and 27 healthy controls.
  • Thyroid function was assessed through laboratory tests, including thyroid-stimulating hormone (TSH) and free thyroxine (fT4).

Main Results:

  • Nearly half (46.7%) of children with Down syndrome presented with abnormal thyroid profiles.
  • Significantly elevated mean TSH and fT4 levels were observed in the Down syndrome group compared to controls.
  • Subclinical hypothyroidism was diagnosed in 33.3% of Down syndrome patients, and overt hypothyroidism in 6.67%.

Conclusions:

  • Children with Down syndrome may exhibit increased TSH secretion without necessarily developing overt thyroid disease.
  • Routine screening for thyroid dysgenesis is recommended for all individuals with Down syndrome due to their increased susceptibility to thyroid dysfunction.