Thyroid dyshormonogenesis.
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.
Kumar
P G
PG
Department of Nuclear Medicine, Army hospital R&R Delhi Cantt, 11010, India. kum39@yahoo.com
Anand
S S
SS
Sood
Vikas
V
Kotwal
N
N
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003409:Congenital Hypothyroidism / Q000000981:diagnostic imaging / Q000201:enzymology / Q000235:genetics; D005260:Female; D006801:Humans; D007453:Iodide Peroxidase / Q000172:deficiency*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000000981:diagnostic imaging / Q000201:enzymology / Q000235:genetics; D011877:Radionuclide Imaging
D007453:Iodide Peroxidase