Literature DB >> 16150286

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.

Kirsten Börgel1, Joachim Pohlenz, Wolfgang Holzgreve, Jurgen H Bramswig.   

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.

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Year:  2005        PMID： 16150286     DOI： 10.1016/j.ajog.2005.01.060

Source DB:  PubMed          Journal:  Am J Obstet Gynecol        ISSN： 0002-9378            Impact factor:   8.661


  6 in total

Review 1.  Prenatal pharmacotherapy for fetal anomalies: a 2011 update.

Authors:  Lisa Hui; Diana W Bianchi
Journal:  Prenat Diagn       Date:  2011-06-03       Impact factor: 3.050

Review 2.  Current knowledge about the in utero and peripartum management of fetal goiter associated with maternal Graves' disease.

Authors:  Shigeo Iijima
Journal:  Eur J Obstet Gynecol Reprod Biol X       Date:  2019-05-02

3.  A Novel Mutation in the Thyroglobulin Gene Resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean Infant

Authors:  Eve Stern; Nadia Schoenmakers; Adeline K. Nicholas; Eran Kassif; Orit Pinhas Hamiel; Yonatan Yeshayahu
Journal:  J Clin Res Pediatr Endocrinol       Date:  2021-04-09

4.  Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mutation.

Authors:  Pradeep Vasudevan; Corrina Powell; Adeline K Nicholas; Ian Scudamore; James Greening; Soo-Mi Park; Nadia Schoenmakers
Journal:  Endocrinol Diabetes Metab Case Rep       Date:  2017-06-07

5.  Genetics of Gland-in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia.

Authors:  Nikolina Zdraveska; Mirjana Kocova; Adeline K Nicholas; Violeta Anastasovska; Nadia Schoenmakers
Journal:  Front Endocrinol (Lausanne)       Date:  2020-07-14       Impact factor: 5.555

6.  Case Report: Functional Analysis and Neuropsychological Evaluation of Dyshormonogenetic Fetal Goiter in Siblings Caused by Novel Compound Hyterozygous TPO Gene Mutations.

Authors:  Tania Maria Barreto Rodrigues; Marlon Messias da Conceição Silva; Magali Maciel Freitas; Zélia Maria Costa Duarte; Vitória Sousa Frutuoso; Mariana Teixeira Rodrigues; Ileana Gabriela Sanchez Rubio
Journal:  Front Endocrinol (Lausanne)       Date:  2021-06-18       Impact factor: 5.555
  6 in total

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