6533b863fe1ef96bd12c7819

RESEARCH PRODUCT

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 BörgelWolfgang HolzgreveJoachim PohlenzJürgen Brämswig

subject

AdultMalePolyhydramniosendocrine systemmedicine.medical_specialtyPolyhydramniosGoiterendocrine system diseasesCompound heterozygosityIodide PeroxidaseInjectionsLoss of heterozygosityHypothyroidismPregnancyInternal medicineCongenital HypothyroidismMedicineHumansThrombopoietinFetusFetal Therapiesbusiness.industryGoiterObstetrics and Gynecologymedicine.diseaseCongenital hypothyroidismFetal DiseasesThyroxineEndocrinologyRetreatmentGestationFemalebusinessFollow-Up Studies

description

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.

yearjournalcountryeditionlanguage
2004-07-28American journal of obstetrics and gynecology
10.1016/j.ajog.2005.01.060https://pubmed.ncbi.nlm.nih.gov/16150286