Congenital hypothyroidism simulating acromegaly - a diagnostic pitfall.

Area of Science:

• Endocrinology
• Pediatrics
• Genetics

Background:

• Population-based neonatal screening has significantly reduced untreated congenital hypothyroidism (CH).
• Clinical manifestations of CH, particularly in adults, are not widely recognized.
• Inborn hypothyreosis can present with varied etiologies, including ectopic thyroid tissue.

Observation:

• A 62-year-old patient was diagnosed with CH due to an ectopic thyroid.
• The diagnosis was incidental, occurring during an investigation for suspected acromegaly.
• The patient's advanced age at diagnosis and atypical presentation were notable.

Findings:

• The patient's CH resulted from an ectopic thyroid gland.
• The ectopic thyroid presented with a delayed and unusual clinical course.
• Congenital hypothyroidism, though rare in adults, can stem from developmental anomalies.

Implications:

• This case underscores the importance of considering congenital hypothyroidism in adult differential diagnoses.
• Even with widespread neonatal screening, rare presentations of CH warrant clinical vigilance.
• Ectopic thyroid tissue should be considered in the etiology of hypothyroidism, irrespective of patient age.