Scientific Online Resource System

Scripta Scientifica Medica

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

Vesselin Boyadzhiev, Boyan Balev, Violeta Iotova


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.


growth hormone deficiency; multiple enchondromatosis; growth failure

Full Text


Raine J. E., M. Donaldson et al. Pediatric endocrinology and diabetes in children, 2nd edition 2006, chapter 3: Short stature, 42-63

Alanay Y., R. S. Lachman. A review of the principles of radiological assessment of skeletal dysplasias. J Clin Res Pediatr Endocrinol, Dec 2011; 3(4): 163-178

Camacho-Hubner C., O. Nilsson, L. Savendahl. Cartilage and bone development and its disorders. Endocr. Dev., Karger. 2011, chapter 3: Physiology of bone, 32-48

Herget G. W., P. Strohm, C. Rottenburger et al. Insights into Enchondroma, Enchondromatosis and the risk of secondary Chondrosarcoma. Review of the literature with an emphasis on the clinical behaviour, radiology, malignant transformation and the follow up. Neoplasma 2014, 61 (4), 365-378

Ozkan B. Nutritional rickets. J Clin Res Pediatr Endocrinol. Dec 2010; 2(4), 137-143

Pansuriya T. C., H. Kroon, J. Bovee. Enchondromatosis: insights on the different subtypes. Int J Clin Exp Pathol 2010, 3 (6), 557-569

Silve C., H. J├╝ppner. Ollier disease. Orphanet Journal of Rare Diseases 2006, 1:37

Couvineau A., V. Wouters, G. Bertrand et al. PTHR1 mutations associated with Ollier disease result in receptor loss of function. Human Molecular Genetics, 2008, Vol. 17, No. 18, 2766-2775

Mulliken J., P. Burrows, S. Fishman. Mulliken and Young`s Vascular Anomalies: Hemangiomas and Malformations. Oxford University Press, USA; 2nd edition 2013; chapter 9, 349

Dang L., S. Jin, SM Su. IDH mutations in glioma and acute myeloid leukemia. Trends Mol Med. 2010 Sep; 16(9), 387-397

Amary MF, K. Bacsi, F. Maggiani et al. IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours. J Pathol. 2011 Jul; 224(3), p. 334-343. doi: 10.1002/path.2913. Epub 2011 May 19.

Pansuriya TC, R. van Eijk, P. d`Adamo P et al. Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome., Nat Genet. 2011 Nov 6; 43(12), 1256-61.

Yang W., B. Neel. From an orphan disease to a generalized molecular mechanism PTPN11 lossof-function mutations in the pathogenesis of metachondromatosis. Rare Diseases 1, e26657; 2013,

Bovee J. Multiple osteochondromas. Orphanet J Rare Dis. 2008; 3: 3. doi: 10.1186/1750-1172-3-3

Article Tools
Email this article (Login required)
About The Authors

Vesselin Boyadzhiev
Medical University of Varna, Bulgaria

Department of Pediatrics and Medical Genetics

Boyan Balev
Medical University of Varna, Bulgaria

Department of Radiology

Violeta Iotova
Medical University of Varna, Bulgaria

Department of Pediatrics and Medical Genetics

Font Size