title: Intrauterine therapy of goitrous hypothyroidism in a boy with a new compound heterozygous mutation (Y453D and C800R) in the thyroid peroxidase gene. A long-term follow-up.
abstract: We report the results of intrauterine L-thyroxine therapy, and the long-term follow-up in a fetus who presented at 32 weeks' gestation with goitrous hypothyroidism, hyperextension of the neck, and polyhydramnios. Spontaneous delivery was possible and hypothyroidism improved. Molecular analysis revealed a new compound heterozygous mutation (Y453D/C800R) in the TPO gene.
authors.affiliation: Department of Pediatrics, University Children's Hospital Münster, Münster, Germany.
authors.forename: Kirsten
authors.initials: K
authors.lastname: Börgel
authors.forename: Joachim
authors.initials: J
authors.lastname: Pohlenz
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Holzgreve
authors.forename: Jurgen H
authors.initials: JH
authors.lastname: Bramswig
mesh_terms: D000328:Adult; D003409:Congenital Hypothyroidism; D005260:Female; D005315:Fetal Diseases / Q000188:drug therapy* / Q000235:genetics; D046128:Fetal Therapies / Q000379:methods*; D005500:Follow-Up Studies; D006042:Goiter / Q000209:etiology / Q000235:genetics; D006801:Humans; D007037:Hypothyroidism / Q000188:drug therapy* / Q000196:embryology / Q000235:genetics*; D007267:Injections; D007453:Iodide Peroxidase / Q000235:genetics*; D008297:Male; D006831:Polyhydramnios / Q000209:etiology; D011247:Pregnancy; D019233:Retreatment; D013974:Thyroxine / Q000008:administration & dosage* / Q000627:therapeutic use
chemical_list: D007453:Iodide Peroxidase; D013974:Thyroxine