Development of thyroid gland for 4 amrsks and associated congenital anomalies for 2 marks

| Anomaly | Mechanism | Key Features |
|---|---|---|
| Thyroglossal Duct Cyst | Failure of thyroglossal duct to degenerate | Most common - midline neck cyst, usually below hyoid bone (60-80%); moves on swallowing and tongue protrusion; may become infected and form a sinus |
| Ectopic Thyroid | Arrest of descent anywhere along the migration path | Lingual thyroid is most common ectopic site; also sublingual, high cervical, mediastinal; in 70% of cases, ectopic tissue is the ONLY functioning thyroid tissue - removal is dangerous |
| Agenesis / Hemiagenesis | Failure of thyroid primordium to form | Complete absence (agenesis) or unilateral lobe absence (hemiagenesis - left lobe more often absent 5:1); leads to congenital hypothyroidism |
| Congenital Hypothyroidism | Various mutations (TSH receptor, TTF1, TTF2, PAX8) | Most common metabolic disorder in neonates; causes neurodevelopmental disorders and infertility if untreated; associated with renal/urinary tract defects |
| Lateral Aberrant Thyroid | Incomplete fusion of ultimobranchial body | Follicular thyroid tissue lateral to the internal jugular vein; most cases represent metastatic thyroid carcinoma |