Background: SHORT syndrome is an autosomal dominant genetic multisystem disorder determined by PIK3R1 gene mutations, which normally plays a role in cell signalling. SHORT is an acronym for short stature, hyperextensibility of joints and/or hernia, ocular depression, Rieger anomaly and teething delay. It is a rare condition; its prevalence is unknown with only few affected individuals and families reported worldwide.
Case report: We report a case of 4 years 2 months old girl, evaluated at the Endocrinology Department, for short stature (height=87 cm, −4.4 S.D., weight=11 kg, normal family history) associating low birth weight (2080 g, 39 w, <−2DS), ocular anomalies (deformed pupil, tractioned to the superolateral nasal region), dental defects (multiple caries, tooth fracture) and particular facies (triangular face, prominent forehead, deep-set eyes, thin nasal alae, downturned corners of the mouth). The evaluation of the somatotropic axis revealed GH of 0.269 ng/ml, low IGF-1=27.1 ng/ml (N=49289) with normal thyroid function. Hand-wrist X-ray showed delayed bone age (3 years). Due to eye defects, ophthalmology evaluation was performed and diagnosed iris atrophy suggestive for Rieger anomaly, which together with the other phenotypic particularities pleaded for SHORT syndrome. Unfortunately genetic testing could not be performed due to lacking resources. Low birth weight (born SGA), persistent severe growth retardation, delayed bone age and low IGF1, made rhGH treatment to be taken into consideration. Further evaluation of glucose metabolism revealed no anomaly and brain MRI showed normal hypothalamic-pituitary morphology. Thus the rhGH treatment was started at a dose of 0.039 mg/kg per day, with good growth rate 0.83 cm/month after 1 year.
Conclusion: SHORT syndrome is a rare disease and given the few cases, there is not a definite attitude toward short stature management. To our knowledge this would be the first case treated with rhGH. The growth response was good with no metabolic side effects.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology