Dyshormonogenetic goitre with clear cell change resembling parathyroid adenoma--a case report.

ABSTRACT

Dyshormonogenesis is a rare cause of goitre. It is manifestation of mutation in genes controlling the proteins involved in synthesis of thyroid hormones. Though there is wide spectrum of biochemical and clinical presentation, pathological features are similar in all defects. Nonencapsulated nodules with minimal regressive changes and lack of lymphocytic infiltration are important diagnostic features. Clear cell change as seen in this case is common and needs to be differentiated from parathyroid adenoma. Hypercellularity with cellular atypia should not lead to misdiagnosis of malignancy.