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Metrorrhagia and precocious puberty revealing primary hypothyroidism in a child with Down's syndrome
W Chemaitilly1, C Thalassinos, S Emond
1Paediatric Endocrinology Department, Hôpital Necker Enfants Malades, Paris, France. wassimnet@aol.com
Archives of Disease in Childhood
|March 26, 2003
Insights
Down syndrome can present with unusual symptoms like precocious puberty and metrorrhagia, indicating primary autoimmune hypothyroidism. Early diagnosis and treatment of this thyroid condition are crucial to prevent developmental issues.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Reproductive Endocrinology
Background:
- Down syndrome is associated with various endocrine abnormalities.
- Autoimmune conditions are more prevalent in individuals with Down syndrome.
Observation:
- A pediatric patient with Down syndrome presented with metrorrhagia and precocious puberty.
- Clinical signs included decreased growth velocity, weight gain, delayed bone age, and bilateral multicystic ovarian enlargement.
Findings:
- The patient was diagnosed with primary autoimmune hypothyroidism.
- This endocrine disorder was the underlying cause of the observed symptoms.
Implications:
- Delayed diagnosis of hypothyroidism in Down syndrome can lead to atypical presentations.
- Timely identification and management of autoimmune hypothyroidism are essential for optimal growth and development in affected children.
Abstract:
We report a child with Down's syndrome in whom metrorrhagia and precocious puberty revealed primary autoimmune hypothyroidism. The patient had a decreased growth velocity, exaggerated weight gain, bone age delay, and bilaterally enlarged multicystic ovaries. Delays in the diagnosis and treatment of hypothyroidism can lead to this peculiar presentation.
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