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Growth hormone deficiency and multiple Enchondromatosis (Ollier disease) in a boy with short stature

Vesselin Boyadzhiev, Boyan Balev, Violeta Iotova

Abstract

We present a boy diagnosed and treated with growth hormone (GH) for isolated GH deficiency. During 2 year follow up he did not catch up in both height and weight. Although there was no skeletal disproportionality, nor any other complaints, his walk began changing and lower limbs deformity appeared (genua vara). Extensive skeletal radiological survey found multiple enchondromatosis (knees, iliac bones) and Ollier disease was diagnosed. There is no specific treatment for this condition, but its presence questions future GH therapy. The poor response to growth hormone treatment and the risk of developing malignant transformation in the future raises the important questions of the real benefits and the possible harms of its maintenance.

Keywords

growth hormone deficiency; multiple enchondromatosis; growth failure

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DOI: http://dx.doi.org/10.14748/ssm.v46i3.761
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About The Authors

Vesselin Boyadzhiev
Medical University of Varna, Bulgaria
Bulgaria

Department of Pediatrics and Medical Genetics

Boyan Balev
Medical University of Varna, Bulgaria
Bulgaria

Department of Radiology

Violeta Iotova
Medical University of Varna, Bulgaria
Bulgaria

Department of Pediatrics and Medical Genetics

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