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Summary
HYPOTHYROIDISM, CONGENITAL
CRETINISM, ATHYREOTIC THYROID DYSGENESIS
218700
OMIM = Online Medalian Inheritance of Men
442
2q12-q14
  • L-thyroxine
1:4000 sporadic, familial, goitrous, non-goitrous congenital hypothyroidism may result from: - thyroid gland dysgenesis - deficient production of thyroid hormone - defect of receptor - fetal exposure to exsessive iodides - fetal exposure to antithyroid drugs
symptoms
cardiomegaly
constipation
defect of thyroid gland
feeding difficulties, poor feeding
hearing defect, deafness
hernia
hypothermia
jaundice
macroglossia, large/protuding tongue
mental retardation
motor retardation
myxedema
onset, infant
onset, newborn
X-ray, abnormalities
laboratory finding
Thyroid-stimulating hormone (TSH) 2.004.00increasedserum
Thyroxine (T4) 7.0015.00decreasedserum
Triiodthyronine 240.00560.00decreasedserum
MRS, brain, abnormalities -
ECG abnormalities -
Literature
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Bezman Let al.Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screeningAnn Neurol494512-5172001
Bhowmick SKLewandowski CProlonged hyperinsulinism and hypoglycemia. In an asphyxiated, small for gestation infant. Case management and literature reviewActa Paediatr Hung31047-521991
Haas DKelley RI, Hoffmann GFInherited disorders of cholesterol biosynthesisNeuropediatrics320113-1222001
Wanders RJAet al.Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cellsJ Inher Met Dis Suppl.18090-991995
Fenton WARosenberg LEInherited disorders of cobalamin transport and metabolismThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.203129-32491995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994