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

Annals of Pediatric Endocrinology & Metabolism 2020년 25권 2호 p.126 ~ 131
손현우, 이정은, 오승환, Keum Chang-Won, 정우영,
소속 상세정보
손현우 ( Son Hyun-Woo ) - Inje University Busan Paik Hospital Department of Pediatrics
이정은 ( Lee Jeong-Eun ) - Inje University Busan Paik Hospital Department of Pediatrics
오승환 ( Oh Seung-Hwan ) - Inje University Busan Paik Hospital Department of Diagnostic Laboratory Medicine
 ( Keum Chang-Won ) - Rare Genetic Disease Research Center
정우영 ( Chung Woo-Yeong ) - Inje University Busan Paik Hospital Department of Pediatrics

Abstract


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.

키워드

Floating-Harbor syndrome; Pediatric; Growth hormone; SRCAP

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