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,...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Korean Society of Pediatric Endocrinology
2020-06-01
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| Series: | Annals of Pediatric Endocrinology & Metabolism |
| Subjects: | |
| Online Access: | http://e-apem.org/upload/pdf/apem-1938144-072.pdf |
| _version_ | 1828465913665421312 |
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| author | Hyun Woo Son Jeong Eun Lee Seung Hwan Oh Changwon Keum Woo Yeong Chung |
| author_facet | Hyun Woo Son Jeong Eun Lee Seung Hwan Oh Changwon Keum Woo Yeong Chung |
| author_sort | Hyun Woo Son |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-11T03:41:09Z |
| format | Article |
| id | doaj.art-efbe1171eb5b4538a19a1d427136eb5b |
| institution | Directory Open Access Journal |
| issn | 2287-1012 2287-1292 |
| language | English |
| last_indexed | 2024-12-11T03:41:09Z |
| publishDate | 2020-06-01 |
| publisher | Korean Society of Pediatric Endocrinology |
| record_format | Article |
| series | Annals of Pediatric Endocrinology & Metabolism |
| spelling | doaj.art-efbe1171eb5b4538a19a1d427136eb5b2022-12-22T01:22:08ZengKorean Society of Pediatric EndocrinologyAnnals of Pediatric Endocrinology & Metabolism2287-10122287-12922020-06-0125212613110.6065/apem.1938144.072818Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndromeHyun Woo Son0Jeong Eun Lee1Seung Hwan Oh2Changwon Keum3Woo Yeong Chung4 Department of Pediatrics, Inje University Busan Paik Hospital, Busan, Korea Department of Pediatrics, Inje University Busan Paik Hospital, Busan, Korea Department of Diagnostic Laboratory Medicine, Inje University Busan Paik Hospital, Busan, Korea Rare Genetic Disease Research Center, 3 Billion, Seoul, Korea Department of Pediatrics, Inje University Busan Paik Hospital, Busan, KoreaFloating-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.http://e-apem.org/upload/pdf/apem-1938144-072.pdffloating-harbor syndromepediatricgrowth hormone |
| spellingShingle | Hyun Woo Son Jeong Eun Lee Seung Hwan Oh Changwon Keum Woo Yeong Chung Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome Annals of Pediatric Endocrinology & Metabolism floating-harbor syndrome pediatric growth hormone |
| 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 | floating-harbor syndrome pediatric growth hormone |
| url | http://e-apem.org/upload/pdf/apem-1938144-072.pdf |
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