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      Familial Form of Thyroid Dysgenesis: Report of Thyroid Hemiagenesis with Accompanying Graves’ Disease in a Woman Whose Daughter Has Thyroid Agenesis

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          Abstract

          The subject is a 44-year-old female with thyroid hemiagenesis, who initially presented with hyperthyroidism. Thyroid peroxide antibody and thyroglobulin antibody levels were high. The scintiscan study and sonographic findings were compatible with thyroid hemiagenesis with accompanying Graves’ disease. In reviewing her family history, her daughter was found to have thyroid agenesis, and other thyroid disorders were found in 2 female family members.

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          Most cited references 6

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          Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia.

          Congenital hypothyroidism occurs in one of every three to four thousand newborns, owing to complete or partial failure of thyroid gland development. Although thyroid hypoplasia has recently been associated with mutations in the thyrotropin (TSH) receptor, the cause of thyroid agenesis is unknown. Proteins including thyroid transcription factors 1 (TTF-1; refs 4,5) and 2 (TTF-2; refs 6,7) and Pax8 (refs 8,9) are abundant in the developing mouse thyroid and are known to regulate genes expressed during its differentiation (for example, thyroid peroxidase and thyroglobulin genes). TTF-2 is a member of the forkhead/winged-helix domain transcription factor family, many of which are key regulators of embryogenesis. Here we report that the transcription factor FKHL15 (ref. 11) is the human homologue of mouse TTF-2 (encoded by the Titf2 gene) and that two siblings with thyroid agenesis, cleft palate and choanal atresia are homozygous for a missense mutation (Ala65Val) within its forkhead domain. The mutant protein exhibits impaired DNA binding and loss of transcriptional function. Our observations represent the first description of a genetic cause for thyroid agenesis.
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            Prevalence of thyroid hemiagenesis: ultrasound screening in normal children.

            While performing a systematic ultrasound study of the thyroid gland volume for the evaluation of iodine deficiency in 2845 normal Belgian school children, we found an absence of the left lobe in 6 children (4 girls and 2 boys). There was no association with other thyroid malformations or dysfunction. This first systematic ultrasound evaluation of thyroid hemiagenesis in normal children established a prevalence of thyroid hemiagenesis of 0.2% and confirmed the female predominance and higher incidence of agenesis of the left lobe.
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              Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics.

              Spinal muscular atrophy (SMA) is a common recessive disorder characterized by the loss of lower motor neurons in the spinal cord. The disease has been classified into three types based on age of onset and severity. SMA I-III all map to chromosome 5q13 (refs 2,3), and nearly all patients display deletions or gene conversions of the survival motor neuron (SMN1) gene. Some correlation has been established between SMN protein levels and disease course; nevertheless, the genetic basis for SMA phenotypic variability remains unclear, and it has been postulated that the loss of an additional modifying factor contributes to the severity of type I SMA. Using comparative genomics to screen for such a factor among evolutionarily conserved sequences between mouse and human, we have identified a novel transcript, H4F5, which lies closer to SMN1 than any previously identified gene in the region. A multi-copy microsatellite marker that is deleted in more than 90% of type I SMA chromosomes is embedded in an intron of this gene, indicating that H4F5 is also highly deleted in type I SMA chromosomes, and thus is a candidate phenotypic modifier for SMA.
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                Author and article information

                Journal
                HRE
                Horm Res Paediatr
                10.1159/issn.1663-2818
                Hormone Research in Paediatrics
                S. Karger AG
                1663-2818
                1663-2826
                2003
                2003
                13 January 2003
                : 59
                : 1
                : 47-49
                Affiliations
                Division of Endocrinology and Metabolism, Department of Medicine, Taichung Veterans General Hospital, Taichung, Taiwan
                Article
                67938 Horm Res 2003;59:47–49
                10.1159/000067938
                12566736
                © 2003 S. Karger AG, Basel

                Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

                Page count
                Figures: 3, References: 18, Pages: 3
                Categories
                Case Report

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