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:	Sayan Ghosh, Partha Pratim Chakraborty, Biswabandhu Bankura, Animesh Maiti, Rajkrishna Biswas, Madhusudan Das
Formato:	article
Lenguaje:	EN
Publicado:	Galenos Yayincilik 2021
Materias:	isolated growth hormone deficiency type 1a gh1 gene anti-growth hormone antibody Pediatrics RJ1-570 Diseases of the endocrine glands. Clinical endocrinology RC648-665
Acceso en línea:	https://doaj.org/article/083a3bf876a44f999bf8ba1ffdfca02d
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spelling	oai:doaj.org-article:083a3bf876a44f999bf8ba1ffdfca02d2021-11-26T06:10:17ZDifferent 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 Gene1308-57271308-573510.4274/jcrpe.galenos.2020.2020.0005https://doaj.org/article/083a3bf876a44f999bf8ba1ffdfca02d2021-12-01T00:00:00Z http://www.jcrpe.org/archives/archive-detail/article-preview/different-growth-responses-to-recombinant-human-gr/40283 https://doaj.org/toc/1308-5727https://doaj.org/toc/1308-5735Isolated 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.Sayan GhoshPartha Pratim ChakrabortyBiswabandhu BankuraAnimesh MaitiRajkrishna BiswasMadhusudan DasGalenos Yayincilikarticleisolated growth hormone deficiency type 1agh1 geneanti-growth hormone antibodyPediatricsRJ1-570Diseases of the endocrine glands. Clinical endocrinologyRC648-665ENJCRPE, Vol 13, Iss 4, Pp 456-460 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	isolated growth hormone deficiency type 1a gh1 gene anti-growth hormone antibody Pediatrics RJ1-570 Diseases of the endocrine glands. Clinical endocrinology RC648-665
spellingShingle	isolated growth hormone deficiency type 1a gh1 gene anti-growth hormone antibody Pediatrics RJ1-570 Diseases of the endocrine glands. Clinical endocrinology RC648-665 Sayan Ghosh Partha Pratim Chakraborty Biswabandhu Bankura Animesh Maiti Rajkrishna Biswas Madhusudan Das 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
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.
format	article
author	Sayan Ghosh Partha Pratim Chakraborty Biswabandhu Bankura Animesh Maiti Rajkrishna Biswas Madhusudan Das
author_facet	Sayan Ghosh Partha Pratim Chakraborty Biswabandhu Bankura Animesh Maiti Rajkrishna Biswas Madhusudan Das
author_sort	Sayan Ghosh
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_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_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_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
publisher	Galenos Yayincilik
publishDate	2021
url	https://doaj.org/article/083a3bf876a44f999bf8ba1ffdfca02d
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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

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