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Different Growth Responses to Recombinant Human Growth Hormone in Three Siblings with Isolated Growth Hormone Deficiency Type 1A due to a 6.7Kb Deletion in the GH1 Gene

Isolated growth hormone deficiency (IGHD) type 1A is a rare, autosomal recessive disorder caused by deletion of the GH1 gene and characterized by early onset severe short stature and typical phenotype. Lack of exposure to GH during fetal life often leads to formation of anti-GH antibody following ex...

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Autores principales: Ghosh, Sayan, Chakraborty, Partha Pratim, Bankura, Biswabandhu, Maiti, Animesh, Biswas, Rajkrishna, Das, Madhusudan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8638633/
https://www.ncbi.nlm.nih.gov/pubmed/32936763
http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0005
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author Ghosh, Sayan
Chakraborty, Partha Pratim
Bankura, Biswabandhu
Maiti, Animesh
Biswas, Rajkrishna
Das, Madhusudan
author_facet Ghosh, Sayan
Chakraborty, Partha Pratim
Bankura, Biswabandhu
Maiti, Animesh
Biswas, Rajkrishna
Das, Madhusudan
author_sort Ghosh, Sayan
collection PubMed
description Isolated growth hormone deficiency (IGHD) type 1A is a rare, autosomal recessive disorder caused by deletion of the GH1 gene and characterized by early onset severe short stature and typical phenotype. Lack of exposure to GH during fetal life often leads to formation of anti-GH antibody following exposure even the least immunogenic recombinant human GH (rhGH). Some patients with circulating anti-GH antibodies demonstrate lack of growth response to GH while others do not. However, the clinical significance of this antibody is unclear; hence testing is not routinely recommended. Three siblings, born of a consanguineous union, were referred with severe short stature. They were evaluated and IGHD was diagnosed in all of them. Genetic analysis revealed that all three had homozygous 6.7 Kb deletion in GH1 gene, while their parents displayed a pattern of heterozygous 6.7 Kb deletions. rhGH was started at 10, 6 and 1.58 years of age, respectively. Growth and hormonal parameters were monitored throughout the course of treatment. The eldest sibling demonstrated expected growth velocity (9.5 cm/year) for the first year of rhGH that rapidly waned thereafter (2.5 cm/year). The youngest sibling experienced excellent growth response even after the third year (10.3 cm/year) while the middle sibling displayed sub-optimal response from rhGH initiation (6.3 cm/year). Change of rhGH brand did not work in the two elder sisters. Such a different growth response with rhGH in three siblings harbouring similar genetic abnormality has not been described previously.
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spelling pubmed-86386332021-12-13 Different Growth Responses to Recombinant Human Growth Hormone in Three Siblings with Isolated Growth Hormone Deficiency Type 1A due to a 6.7Kb Deletion in the GH1 Gene Ghosh, Sayan Chakraborty, Partha Pratim Bankura, Biswabandhu Maiti, Animesh Biswas, Rajkrishna Das, Madhusudan J Clin Res Pediatr Endocrinol Case Report Isolated growth hormone deficiency (IGHD) type 1A is a rare, autosomal recessive disorder caused by deletion of the GH1 gene and characterized by early onset severe short stature and typical phenotype. Lack of exposure to GH during fetal life often leads to formation of anti-GH antibody following exposure even the least immunogenic recombinant human GH (rhGH). Some patients with circulating anti-GH antibodies demonstrate lack of growth response to GH while others do not. However, the clinical significance of this antibody is unclear; hence testing is not routinely recommended. Three siblings, born of a consanguineous union, were referred with severe short stature. They were evaluated and IGHD was diagnosed in all of them. Genetic analysis revealed that all three had homozygous 6.7 Kb deletion in GH1 gene, while their parents displayed a pattern of heterozygous 6.7 Kb deletions. rhGH was started at 10, 6 and 1.58 years of age, respectively. Growth and hormonal parameters were monitored throughout the course of treatment. The eldest sibling demonstrated expected growth velocity (9.5 cm/year) for the first year of rhGH that rapidly waned thereafter (2.5 cm/year). The youngest sibling experienced excellent growth response even after the third year (10.3 cm/year) while the middle sibling displayed sub-optimal response from rhGH initiation (6.3 cm/year). Change of rhGH brand did not work in the two elder sisters. Such a different growth response with rhGH in three siblings harbouring similar genetic abnormality has not been described previously. Galenos Publishing 2021-12 2021-11-25 /pmc/articles/PMC8638633/ /pubmed/32936763 http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0005 Text en ©Copyright 2021 by Turkish Pediatric Endocrinology and Diabetes Society | The Journal of Clinical Research in Pediatric Endocrinology published by Galenos Publishing House. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open-access article distributed under the terms of 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
Ghosh, Sayan
Chakraborty, Partha Pratim
Bankura, Biswabandhu
Maiti, Animesh
Biswas, Rajkrishna
Das, Madhusudan
Different Growth Responses to Recombinant Human Growth Hormone in Three Siblings with Isolated Growth Hormone Deficiency Type 1A due to a 6.7Kb Deletion in the GH1 Gene
title Different Growth Responses to Recombinant Human Growth Hormone in Three Siblings with Isolated Growth Hormone Deficiency Type 1A due to a 6.7Kb Deletion in the GH1 Gene
title_full Different Growth Responses to Recombinant Human Growth Hormone in Three Siblings with Isolated Growth Hormone Deficiency Type 1A due to a 6.7Kb Deletion in the GH1 Gene
title_fullStr Different Growth Responses to Recombinant Human Growth Hormone in Three Siblings with Isolated Growth Hormone Deficiency Type 1A due to a 6.7Kb Deletion in the GH1 Gene
title_full_unstemmed Different Growth Responses to Recombinant Human Growth Hormone in Three Siblings with Isolated Growth Hormone Deficiency Type 1A due to a 6.7Kb Deletion in the GH1 Gene
title_short Different Growth Responses to Recombinant Human Growth Hormone in Three Siblings with Isolated Growth Hormone Deficiency Type 1A due to a 6.7Kb Deletion in the GH1 Gene
title_sort different growth responses to recombinant human growth hormone in three siblings with isolated growth hormone deficiency type 1a due to a 6.7kb deletion in the gh1 gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8638633/
https://www.ncbi.nlm.nih.gov/pubmed/32936763
http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0005
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