Floating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review

Introduction: We aimed to summarize the clinical characteristics of Floating-Harbor syndrome (FHS) and the effect of recombinant human growth hormone (rhGH) to increase height.Methods: The clinical manifestations, gene sequencing results, treatment, and regression of one child with FHS were reported...

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Autores principales:	Hui Bo, Lihong Jiang, Jiaqi Zheng, Jie Sun
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	short stature Floating-Harbor syndrome SRCAP gene recombinant human growth hormone treatment Pediatrics RJ1-570
Acceso en línea:	https://doaj.org/article/245fb3088b184b0fafe90ec341fa6547
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spelling	oai:doaj.org-article:245fb3088b184b0fafe90ec341fa65472021-11-05T14:01:55ZFloating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review2296-236010.3389/fped.2021.747353https://doaj.org/article/245fb3088b184b0fafe90ec341fa65472021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fped.2021.747353/fullhttps://doaj.org/toc/2296-2360Introduction: We aimed to summarize the clinical characteristics of Floating-Harbor syndrome (FHS) and the effect of recombinant human growth hormone (rhGH) to increase height.Methods: The clinical manifestations, gene sequencing results, treatment, and regression of one child with FHS were reported at the Department of Pediatrics, General Hospital of Tianjin Medical University, in July 2020. PubMed was searched using the keyword “Floating-Harbor Syndrome” up to March 2021 to obtain clinical information on children with FHS for review.Results: The child, who was a male aged 6 years and 9 months, presented to the clinic with main complaints of delayed language development since childhood and a short stature for 4 years. The child's short stature, peculiar facial features, delayed language development, and delayed bone development were considered alongside genetic testing and Sanger sequencing to verify the results. A heterozygous mutation (c.7401delC; p.Ile2468Phefs*7) was identified in exon 34 of the SRCAP gene, which was a frameshift mutation, and Sanger verification showed that neither parent had this mutation. The child was administered subcutaneous injection of rhGH (0.13 U/kg/day) and was followed up regularly. At the time of writing, the child had been treated for 6 months and was 7 years and 3 months old with a height of 106.3 cm (−3.69 SDS), which was a height increase of 6.3 cm. The patient did not complain of discomfort during treatment and presented normal laboratory tests results. Twenty-two children with FHS treated with rhGH were included in the literature review, and most of these patients demonstrated an increase in height SDS without adverse effects.Conclusion: Short stature, delayed skeletal maturation, impaired language expression, intellectual deficits, and peculiar facial features are the main clinical features of FHS. rhGH can be used as a treatment to increase height in patients with FHS, but its effectiveness and safety still need to be monitored in larger sample sizes over longer periods of time.Hui BoHui BoLihong JiangJiaqi ZhengJie SunFrontiers Media S.A.articleshort statureFloating-Harbor syndromeSRCAP generecombinant human growth hormonetreatmentPediatricsRJ1-570ENFrontiers in Pediatrics, Vol 9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	short stature Floating-Harbor syndrome SRCAP gene recombinant human growth hormone treatment Pediatrics RJ1-570
spellingShingle	short stature Floating-Harbor syndrome SRCAP gene recombinant human growth hormone treatment Pediatrics RJ1-570 Hui Bo Hui Bo Lihong Jiang Jiaqi Zheng Jie Sun Floating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review
description	Introduction: We aimed to summarize the clinical characteristics of Floating-Harbor syndrome (FHS) and the effect of recombinant human growth hormone (rhGH) to increase height.Methods: The clinical manifestations, gene sequencing results, treatment, and regression of one child with FHS were reported at the Department of Pediatrics, General Hospital of Tianjin Medical University, in July 2020. PubMed was searched using the keyword “Floating-Harbor Syndrome” up to March 2021 to obtain clinical information on children with FHS for review.Results: The child, who was a male aged 6 years and 9 months, presented to the clinic with main complaints of delayed language development since childhood and a short stature for 4 years. The child's short stature, peculiar facial features, delayed language development, and delayed bone development were considered alongside genetic testing and Sanger sequencing to verify the results. A heterozygous mutation (c.7401delC; p.Ile2468Phefs*7) was identified in exon 34 of the SRCAP gene, which was a frameshift mutation, and Sanger verification showed that neither parent had this mutation. The child was administered subcutaneous injection of rhGH (0.13 U/kg/day) and was followed up regularly. At the time of writing, the child had been treated for 6 months and was 7 years and 3 months old with a height of 106.3 cm (−3.69 SDS), which was a height increase of 6.3 cm. The patient did not complain of discomfort during treatment and presented normal laboratory tests results. Twenty-two children with FHS treated with rhGH were included in the literature review, and most of these patients demonstrated an increase in height SDS without adverse effects.Conclusion: Short stature, delayed skeletal maturation, impaired language expression, intellectual deficits, and peculiar facial features are the main clinical features of FHS. rhGH can be used as a treatment to increase height in patients with FHS, but its effectiveness and safety still need to be monitored in larger sample sizes over longer periods of time.
format	article
author	Hui Bo Hui Bo Lihong Jiang Jiaqi Zheng Jie Sun
author_facet	Hui Bo Hui Bo Lihong Jiang Jiaqi Zheng Jie Sun
author_sort	Hui Bo
title	Floating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review
title_short	Floating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review
title_full	Floating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review
title_fullStr	Floating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review
title_full_unstemmed	Floating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review
title_sort	floating-harbor syndrome treated with recombinant human growth hormone: a case report and literature review
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/245fb3088b184b0fafe90ec341fa6547
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Floating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review

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