Effect of long-term GH treatment in a patient with CHARGE as
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Background

CHARGE association is a multiple-malformation syndrome that includes ocular Coloboma, Heart malformations, choanal Atresia, Retardation of growth and development, Genital abnormalities and inner and external Ear abnormalities. The majority of subjects with CHARGE association presents mutations involving the chromodomain helicase DNA-binding protein-7 (CHD7) gene on chromosome 8q12.

Developmental delay and growth retardation become more evident with age. At birth, children with CHARGE association usually have normal weights and lengths and the most marked decline away from the centiles is observed during infancy with a significant limited catch-up growth in stature. Although anterior pituitary dysfunction has not always been identified as the cause of growth failure in patients with CHARGE association, GH deficiency (GHD) has been reported in few cases. To our knowledge, only two patients with CHARGE association and GH deficiency have been treated with recombinant GH therapy but the impact of long-term therapy has not been reported so far.

Hereby we report a case of a patient with CHARGE association and GHD treated with GH from the age of 3 years and 10 months up to final height.....

https://ijponline.biomedcentral.com/articles/10.1186/1824-7288-40-51
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