GROWTH HORMONE DEFICIENCY IN ACHONDROPLASIA SAUDI GIRL. RARE CASE REPORT
*Dr. Badi Alenazi, Dr. Fatima AlTamimim, Dr. Mohammed Albahkali
Achondroplasia is the most common form of chondrodysplasia. It caused by point mutations in the transmembrane domain of the fibroblast growth factor receptor 3 (FGFR 3) gene. Achondroplasia is not associated with growth hormone (GH) deficiency however GH therapy has some beneficial effects as per some reported cases. To our knowledge only one case of Achondroplasia with GH Deficiency was reported. Here we report 8 years old Saudi girl who is a known case of Achondroplasia diagnosed at birth who presented to pediatric endocrine clinic with sever short statue. Her investigation revealed low IGF1. Low GH level after 2 chemical GH stimulation tests and one physiological test. MRI pituitary reveled small pituitary size and bone age was delayed. She was treated with GH therapy. Growth velocity improved after 6 month with no reported side effect.
Keywords: Achondroplasia FGFR3, Growth hormone treatment.
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