title: Thyroid dyshormonogenesis and associated non-thyroidal anomalies in a tertiary care hospital in India.
abstract: BACKGROUND
  Dyshormonogenetic goiter refers to familial goiters owing to an inherited defect in the metabolism of thyroid hormones.
  
  
  METHODS
  19 patients with clinical and biochemically proven hypothyroidism (low T3, FT4 and high TSH) were recruited for the study. All patients were subjected to (i) ultrasound of the neck to rule out thyroid dysgenesis and (ii) technetium-99m radionuclide thyroid scintigraphy and a perchlorate discharge test (PDT). Extrathyroidal malformations were identified by clinical ultrasound (USG) examination of the abdomen and pelvis and by echocardiography.
  
  
  RESULTS
  Out of 19 patients with elevated thyroid uptakes on technetium-99m thyroid scintigraphy, 12 (63%) had a positive PDT and 7 patients (37%) had a negative PDT. All patients were subjected to abdominopelvic USG and echocardiography. Out of 12 patients with a positive PDT, 5 (42%) had associated extrathyroid malformations, 2 had urogenital malformations, and cardiac abnormalities on echocardiography were present in 2 patients (17%). One patient (8%) had features of dysmorphism in the form of a high-arched palate, low-set ears and microcephaly.
  
  
  CONCLUSIONS
  Congenital hypothyroidism due to dyshormogenesis is associated with a high prevalence of extrathyroidal malformations and needs to be managed as early as possible to ensure normal neurocognitive development of the children affected.
authors.affiliation: Department of Nuclear Medicine, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, India.
authors.forename: Tanveer A
authors.initials: TA
authors.lastname: Rather
authors.forename: Shoukat H
authors.initials: SH
authors.lastname: Khan
authors.forename: Shariq
authors.initials: S
authors.lastname: Masoodi
authors.forename: Mohd Sultan
authors.initials: MS
authors.lastname: Alai
mesh_terms: D000015:Abnormalities, Multiple / Q000097:blood / Q000473:pathology; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003409:Congenital Hypothyroidism / Q000097:blood / Q000473:pathology; D004452:Echocardiography; D005260:Female; D006042:Goiter / Q000097:blood / Q000473:pathology; D006801:Humans; D007194:India; D008297:Male; D011877:Radionuclide Imaging; D062606:Tertiary Care Centers; D013961:Thyroid Gland / Q000002:abnormalities / Q000378:metabolism; D013963:Thyroid Hormones / Q000097:blood*
chemical_list: D013963:Thyroid Hormones