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Coexistent insulin dependent diabetes mellitus and hyperthyroidism in a patient with Down's syndrome

B H Chen1, C P Lee, M C Chao

  • 1Department of Pediatrics, Kaohsiung Medical University Hospital, Taiwan.

Insights

Thyroid disease and insulin-dependent diabetes mellitus are uncommon in children with Down syndrome. This case highlights a rare co-occurrence, emphasizing the need for careful thyroid evaluation in these patients.

Area of Science:

  • Pediatrics
  • Endocrinology
  • Genetics

Background:

  • Thyroid disease is more prevalent in individuals with Down syndrome.
  • Thyroid dysfunction and insulin-dependent diabetes mellitus are less commonly reported in children with Down syndrome compared to adults.
  • The co-occurrence of insulin-dependent diabetes mellitus and hyperthyroidism in Down syndrome is exceptionally rare, with only one prior reported case.

Observation:

  • An 8-year-old girl with Down syndrome presented with symptoms of diabetic ketoacidosis, including polyuria, polydipsia, abdominal pain, and urinary incontinence.
  • Physical examination revealed characteristic facial features of Down syndrome (Mongolism) and tachycardia.
  • Laboratory results confirmed diabetic ketoacidosis (plasma glucose 860 mg/dl) and hyperthyroidism (TSH < 0.1 microU/ml, T3 219.7 ng/dl, T4 15 micrograms/dl).

Findings:

  • The patient exhibited significantly elevated thyroid autoimmune antibodies.
  • A Tc-99 thyroid scan showed markedly increased radiotracer uptake in both thyroid glands, indicative of hyperthyroidism.
  • This case represents a rare instance of coexistent insulin-dependent diabetes mellitus and hyperthyroidism in a child with Down syndrome.

Implications:

  • Children with Down syndrome diagnosed with insulin-dependent diabetes mellitus require thorough evaluation of thyroid function.
  • Screening for thyroid dysfunction and autoimmune thyroid disease is crucial in Down syndrome patients with diabetes.
  • Early detection and management of coexisting endocrine disorders can improve patient outcomes in this vulnerable population.

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