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TSH Isoforms: About a Case of Hypothyroidism in a Down's Syndrome Young Adult

Background. For unknown reasons, the prevalence of thyroid autoimmune disorders is higher in patients with Down's syndrome than in the general population. The present case strongly supports a recent evaluation of propagating screening for thyroid disease in this group of patients to assure earl...

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Autores principales: Gauchez, Anne-Sophie, Pizzo, Magali, Alcaraz-Galvain, Dany, Chikh, Karim, Orgiazzi, Jacques, Brabant, Georg, Ronin, Catherine, Charrié, Anne
Formato: Texto
Lenguaje:English
Publicado: SAGE-Hindawi Access to Research 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2957696/
https://www.ncbi.nlm.nih.gov/pubmed/21048840
http://dx.doi.org/10.4061/2010/703978
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author Gauchez, Anne-Sophie
Pizzo, Magali
Alcaraz-Galvain, Dany
Chikh, Karim
Orgiazzi, Jacques
Brabant, Georg
Ronin, Catherine
Charrié, Anne
author_facet Gauchez, Anne-Sophie
Pizzo, Magali
Alcaraz-Galvain, Dany
Chikh, Karim
Orgiazzi, Jacques
Brabant, Georg
Ronin, Catherine
Charrié, Anne
author_sort Gauchez, Anne-Sophie
collection PubMed
description Background. For unknown reasons, the prevalence of thyroid autoimmune disorders is higher in patients with Down's syndrome than in the general population. The present case strongly supports a recent evaluation of propagating screening for thyroid disease in this group of patients to assure early diagnosis of hypothyroidism. Methods. In a 25-year-old man diagnosed with Down's syndrome, clinical manifestations of hypothyroidism were lacking, but profound biochemical abnormalities were found with particularly high levels of thyroid stimulating hormone (TSH). Antigenic properties of TSH were characterized using a panel of anti-TSH antibodies. Results. Technical problems not infrequently associated with TSH measurements are convincingly ruled out. Antigenic characterization of the patient's circulating TSH revealed circulating forms of TSH different from pituitary TSH which closely resembled TSH recombinant human hormone. Conclusions. It appears counterintuitive that the bioactivity of TSH decreases in the hypothyroid state as higher bioactivity of TSH is anticipated in hypothyroidism promoted by an increased hypothalamic TRH drive. In contrast, diminished negative thyroid hormone feedback will enhance posttranslational glycosylation of TSH subunits and increase sialylation of the carbohydrate side chains. Both exert a negative effect on TSH bioactivity, only compensated by the very high levels of the hormone as in the present case.
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spelling pubmed-29576962010-11-03 TSH Isoforms: About a Case of Hypothyroidism in a Down's Syndrome Young Adult Gauchez, Anne-Sophie Pizzo, Magali Alcaraz-Galvain, Dany Chikh, Karim Orgiazzi, Jacques Brabant, Georg Ronin, Catherine Charrié, Anne J Thyroid Res Case Report Background. For unknown reasons, the prevalence of thyroid autoimmune disorders is higher in patients with Down's syndrome than in the general population. The present case strongly supports a recent evaluation of propagating screening for thyroid disease in this group of patients to assure early diagnosis of hypothyroidism. Methods. In a 25-year-old man diagnosed with Down's syndrome, clinical manifestations of hypothyroidism were lacking, but profound biochemical abnormalities were found with particularly high levels of thyroid stimulating hormone (TSH). Antigenic properties of TSH were characterized using a panel of anti-TSH antibodies. Results. Technical problems not infrequently associated with TSH measurements are convincingly ruled out. Antigenic characterization of the patient's circulating TSH revealed circulating forms of TSH different from pituitary TSH which closely resembled TSH recombinant human hormone. Conclusions. It appears counterintuitive that the bioactivity of TSH decreases in the hypothyroid state as higher bioactivity of TSH is anticipated in hypothyroidism promoted by an increased hypothalamic TRH drive. In contrast, diminished negative thyroid hormone feedback will enhance posttranslational glycosylation of TSH subunits and increase sialylation of the carbohydrate side chains. Both exert a negative effect on TSH bioactivity, only compensated by the very high levels of the hormone as in the present case. SAGE-Hindawi Access to Research 2010-07-14 /pmc/articles/PMC2957696/ /pubmed/21048840 http://dx.doi.org/10.4061/2010/703978 Text en Copyright © 2010 Anne-Sophie Gauchez et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Gauchez, Anne-Sophie
Pizzo, Magali
Alcaraz-Galvain, Dany
Chikh, Karim
Orgiazzi, Jacques
Brabant, Georg
Ronin, Catherine
Charrié, Anne
TSH Isoforms: About a Case of Hypothyroidism in a Down's Syndrome Young Adult
title TSH Isoforms: About a Case of Hypothyroidism in a Down's Syndrome Young Adult
title_full TSH Isoforms: About a Case of Hypothyroidism in a Down's Syndrome Young Adult
title_fullStr TSH Isoforms: About a Case of Hypothyroidism in a Down's Syndrome Young Adult
title_full_unstemmed TSH Isoforms: About a Case of Hypothyroidism in a Down's Syndrome Young Adult
title_short TSH Isoforms: About a Case of Hypothyroidism in a Down's Syndrome Young Adult
title_sort tsh isoforms: about a case of hypothyroidism in a down's syndrome young adult
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2957696/
https://www.ncbi.nlm.nih.gov/pubmed/21048840
http://dx.doi.org/10.4061/2010/703978
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