Congenital hypothyroidism and hearing loss without inner ear malformation: Think TPO. 2021

Alban Ziegler, and Anne-Sophie Denommé-Pichon, and Sophie Boucher, and Nathalie Bouzamondo, and Estelle Colin, and Xavier Dieu, and Tanguy Jean Yves, and Natacha Bouhours, and Stéphanie Rouleau, and Régis Coutant, and Patrice Rodien, and Delphine Prunier, and Dominique Bonneau
Service de Génétique, Angers Cedex 9, France.

UI MeSH Term Description Entries
D007453 Iodide Peroxidase A hemeprotein that catalyzes the oxidation of the iodide radical to iodine with the subsequent iodination of many organic compounds, particularly proteins. EC 1.11.1.8. Iodinase,Iodothyronine 5'-Deiodinase,Iodothyronine Deiodinase,Iodotyrosine Deiodase,Thyroid Peroxidase,Thyroxine 5'-Deiodinase,Thyroxine 5'-Monodeiodinase,5'-Deiodinase,Deiodinase,Iodotyrosine Deiodinase,Monodeiodinase,Reverse Triiodothyronine 5'-Deiodinase,T4-5'-Deiodinase,T4-Monodeiodinase,Tetraiodothyronine 5'-Deiodinase,Thyroxine Converting Enzyme,Triiodothyronine Deiodinase,5' Deiodinase,5'-Deiodinase, Iodothyronine,5'-Deiodinase, Reverse Triiodothyronine,5'-Deiodinase, Tetraiodothyronine,5'-Deiodinase, Thyroxine,5'-Monodeiodinase, Thyroxine,Deiodase, Iodotyrosine,Deiodinase, Iodothyronine,Deiodinase, Iodotyrosine,Deiodinase, Triiodothyronine,Enzyme, Thyroxine Converting,Iodothyronine 5' Deiodinase,Peroxidase, Iodide,Peroxidase, Thyroid,Reverse Triiodothyronine 5' Deiodinase,T4 5' Deiodinase,T4 Monodeiodinase,Tetraiodothyronine 5' Deiodinase,Thyroxine 5' Deiodinase,Thyroxine 5' Monodeiodinase,Triiodothyronine 5'-Deiodinase, Reverse
D007758 Ear, Inner The essential part of the hearing organ consists of two labyrinthine compartments: the bony labyrinthine and the membranous labyrinth. The bony labyrinth is a complex of three interconnecting cavities or spaces (COCHLEA; VESTIBULAR LABYRINTH; and SEMICIRCULAR CANALS) in the TEMPORAL BONE. Within the bony labyrinth lies the membranous labyrinth which is a complex of sacs and tubules (COCHLEAR DUCT; SACCULE AND UTRICLE; and SEMICIRCULAR DUCTS) forming a continuous space enclosed by EPITHELIUM and connective tissue. These spaces are filled with LABYRINTHINE FLUIDS of various compositions. Labyrinth,Bony Labyrinth,Ear, Internal,Inner Ear,Membranous Labyrinth,Bony Labyrinths,Ears, Inner,Ears, Internal,Inner Ears,Internal Ear,Internal Ears,Labyrinth, Bony,Labyrinth, Membranous,Labyrinths,Labyrinths, Bony,Labyrinths, Membranous,Membranous Labyrinths
D008297 Male Males
D003409 Congenital Hypothyroidism A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA. Cretinism,Myxedema, Congenital,Endemic Cretinism,Fetal Iodine Deficiency Disorder,Cretinism, Endemic,Hypothyroidism, Congenital
D005260 Female Females
D006319 Hearing Loss, Sensorineural Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM. Deafness Neurosensory,Deafness, Neurosensory,Deafness, Sensoryneural,Neurosensory Deafness,Sensorineural Hearing Loss,Sensoryneural Deafness,Cochlear Hearing Loss,Hearing Loss, Cochlear,Deafnesses, Neurosensory,Deafnesses, Sensoryneural,Neurosensory Deafnesses,Sensoryneural Deafness,Sensoryneural Deafnesses
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000073359 Exome Sequencing Techniques used to determine the sequences of EXONS of an organism or individual. Complete Exome Sequencing,Complete Transcriptome Sequencing,Whole Exome Sequencing,Whole Transcriptome Sequencing,Complete Exome Sequencings,Exome Sequencing, Complete,Exome Sequencing, Whole,Exome Sequencings, Complete,Sequencing, Complete Exome,Sequencing, Complete Transcriptome,Sequencing, Exome,Sequencing, Whole Exome,Sequencing, Whole Transcriptome,Transcriptome Sequencing, Complete,Transcriptome Sequencing, Whole,Transcriptome Sequencings, Complete
D001324 Autoantigens Endogenous tissue constituents with the ability to interact with AUTOANTIBODIES and cause an immune response. Autoantigen,Autologous Antigen,Autologous Antigens,Self-Antigen,Self-Antigens,Antigen, Autologous,Antigens, Autologous,Self Antigen,Self Antigens
D017354 Point Mutation A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. Mutation, Point,Mutations, Point,Point Mutations

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