0000000000524205

AUTHOR

S Wirth

showing 2 related works from this author

Phenotypic variability in patients with generalised resistance to thyroid hormone.

1995

Genetic linkage of generalised resistance to thyroid hormone (GRTH) to the human thyroid receptor beta 1 gene has been identified. To date 38 different mutations in several kindreds have been documented. We report on a family with GRTH displaying an adenine for guanine substitution at nucleotide 1234 resulting in a threonine for alanine substitution at codon 317 of exon 9. This mutation has been described for different phenotypes, suggesting that the heterogeneity in GRTH may be the result of multiple genetic factors.

AdultMaleThyroid Hormone Resistance SyndromeThyroid Hormonesmedicine.medical_specialtyGenetic LinkageMolecular Sequence DataThyroid Function TestsBiologymedicine.disease_causeThyroid function testsGenetic HeterogeneityExonGenetic linkageInternal medicineGeneticsmedicineHumansPoint MutationAmino Acid SequenceChildGeneGenetics (clinical)GeneticsMutationReceptors Thyroid HormoneBase Sequencemedicine.diagnostic_testGenetic heterogeneityPoint mutationThyroidPedigreePhenotypemedicine.anatomical_structureEndocrinologyChild PreschoolFemaleResearch ArticleJournal of Medical Genetics
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Pregnancy Outcome in Maternal Crigler-Najjar Syndrome Type II: A Case Report and Systematic Review of the Literature

2008

<i>Objective:</i> To report a case of maternal Crigler-Najjar syndrome (CNS) type II in pregnancy, systematically review the literature for similar case reports, and to evaluate whether pregnancy is safe in patients with the disease. Data sources included the PubMed and uptodate databases. <i>Results:</i> A 37-year-old mother with CNS type II was treated with phenobarbital during her pregnancy and her bilirubin levels were monitored. Her newborn had mild direct hyperbilirubinemia, did not require any treatment and his postnatal follow-up showed normal growth and development as well as normal hearing. <i>Conclusion:</i> CNS type II is rare, and only a few …

AdultMaleEmbryologyPediatricsmedicine.medical_specialtyBilirubinCrigler–Najjar syndromeDiseasechemistry.chemical_compoundPregnancymedicineHumansRadiology Nuclear Medicine and imagingNeonatologyHearing DisordersKernicterusCrigler-Najjar SyndromePregnancyFetusbusiness.industryInfant NewbornPregnancy OutcomeInfantObstetrics and GynecologyBilirubinGeneral Medicinemedicine.diseaseSurgeryPregnancy ComplicationschemistryPhenobarbitalPediatrics Perinatology and Child HealthGestationFemalePhenobarbitalbusinessmedicine.drugFetal Diagnosis and Therapy
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