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Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome

Floating-Harbor syndrome is a rare autosomal dominant disorder that presents with short stature, facial dysmorphism, significantly delayed bone age, skeletal abnormalities, speech and language problems, and intellectual disabilities. Although short stature is one of the main clinical manifestations,...

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Autores principales: Son, Hyun Woo, Lee, Jeong Eun, Oh, Seung Hwan, Keum, Changwon, Chung, Woo Yeong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336260/
https://www.ncbi.nlm.nih.gov/pubmed/32615693
http://dx.doi.org/10.6065/apem.1938144.072
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author Son, Hyun Woo
Lee, Jeong Eun
Oh, Seung Hwan
Keum, Changwon
Chung, Woo Yeong
author_facet Son, Hyun Woo
Lee, Jeong Eun
Oh, Seung Hwan
Keum, Changwon
Chung, Woo Yeong
author_sort Son, Hyun Woo
collection PubMed
description Floating-Harbor syndrome is a rare autosomal dominant disorder that presents with short stature, facial dysmorphism, significantly delayed bone age, skeletal abnormalities, speech and language problems, and intellectual disabilities. Although short stature is one of the main clinical manifestations, use of growth hormone therapy in Floating-Harbor syndrome patients has been limited. Only a few reports have investigated the response to growth hormone therapy with regard to final adult height. We report the case of a 7-year-old girl with FloatingHarbor syndrome and a heterozygous mutation, c.7330C > T (p.Arg2444*), in the SRCAP gene. The patient exhibited dysmorphic facial features, severe intellectual disabilities, obsessive-compulsive and aggressive behaviors, and short stature without growth hormone deficiency. Her height standard deviation score improved after 55 months of growth hormone therapy.
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spelling pubmed-73362602020-07-16 Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome Son, Hyun Woo Lee, Jeong Eun Oh, Seung Hwan Keum, Changwon Chung, Woo Yeong Ann Pediatr Endocrinol Metab Case Report Floating-Harbor syndrome is a rare autosomal dominant disorder that presents with short stature, facial dysmorphism, significantly delayed bone age, skeletal abnormalities, speech and language problems, and intellectual disabilities. Although short stature is one of the main clinical manifestations, use of growth hormone therapy in Floating-Harbor syndrome patients has been limited. Only a few reports have investigated the response to growth hormone therapy with regard to final adult height. We report the case of a 7-year-old girl with FloatingHarbor syndrome and a heterozygous mutation, c.7330C > T (p.Arg2444*), in the SRCAP gene. The patient exhibited dysmorphic facial features, severe intellectual disabilities, obsessive-compulsive and aggressive behaviors, and short stature without growth hormone deficiency. Her height standard deviation score improved after 55 months of growth hormone therapy. Korean Society of Pediatric Endocrinology 2020-06 2020-06-30 /pmc/articles/PMC7336260/ /pubmed/32615693 http://dx.doi.org/10.6065/apem.1938144.072 Text en © 2020 Annals of Pediatric Endocrinology & Metabolism This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Son, Hyun Woo
Lee, Jeong Eun
Oh, Seung Hwan
Keum, Changwon
Chung, Woo Yeong
Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome
title Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome
title_full Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome
title_fullStr Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome
title_full_unstemmed Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome
title_short Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome
title_sort effects of long-term growth hormone therapy in a girl with floating-harbor syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336260/
https://www.ncbi.nlm.nih.gov/pubmed/32615693
http://dx.doi.org/10.6065/apem.1938144.072
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