Severe skeletal dysplasia caused by undiagnosed hypothyroidism

Area of Science:

• Pediatric Endocrinology
• Medical Genetics
• Neonatal Screening

Background:

• Neonatal screening and early detection have reduced long-term untreated congenital hypothyroidism.
• However, congenital hypothyroidism may still be missed by screening, especially in regions without universal screening programs.

Observation:

• A 13-year-old patient presented with severe skeletal deformities and mental disability due to undiagnosed congenital hypothyroidism.
• Clinical features included coarse facial features, truncal shortening, kyphoscoliosis, and significantly retarded bone age.
• Radiographic findings revealed vertebral anomalies and absent femoral ossification centers.

Findings:

• The patient had an ectopic thyroid gland, leading to congenital hypothyroidism.
• No mutation in the PAX8 gene, typically associated with ectopic or hypoplastic thyroids, was identified.

Implications:

• This case underscores the critical need for vigilance in diagnosing congenital hypothyroidism beyond neonatal screening.
• Delayed diagnosis can result in severe, irreversible skeletal and cognitive impairments.
• Further research into genetic causes of ectopic thyroid and congenital hypothyroidism is warranted.