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Article

Neonatal presentation of growth hormone deficiency in CHARGE syndrome: the benefit of early treatment on long-term growth.

Archives of endocrinology and metabolism - 1 Aug 2020

Costa Carla, Coutinho Eduarda, Santos-Silva Rita, Castro-Correia Cíntia, Lemos Manuel Carlos, Fontoura Manuel

Abstract excerpt

CHARGE syndrome is a complex disorder involving multiple congenital anomalies and is caused by heterozygous mutations in the CHD7 gene. Growth retardation is a characteristic finding and about 10% of cases present growth hormone (GH) deficiency. GH treatment of short stature in CHARGE syndrome has shown some benefit, but normal height is rarely attained. We report a girl with CHARGE syndrome due to a de novo...

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Identifiers

PMID: 32267359
DOI: 10.20945/2359-3997000000231
PMCID: PMC10522080

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