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Case Reports
. 2005 Dec;42(12):1233-5.

Thyroid dyshormonogenesis

P G Kumar  1 , S S Anand, Vikas Sood, N Kotwal
Affiliations
  • PMID: 16424561
Free article
Case Reports

Thyroid dyshormonogenesis

P G Kumar et al. Indian Pediatr. 2005 Dec.
Free article

Abstract

Dyshormonogenesis is an uncommon cause of congenital hypothyroidism. The most common abnormality is absent or insufficient thyroid peroxidase enzyme. Perchlorate discharge test can be used to diagnose thyroid peroxidase deficiency. We report three siblings with hypothyroidism due to thyroid dyshormonogenesis. Early institution of therapy in these patients can prevent mental retardation and other features of hypothyroidism.

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