Bone Abstracts

Background: Short stature is a very common reason for referral to a pediatric endocrinologist. Endocrine and non endocrine causes are involved. Short stature can be classified as symmetrical or non-symmetrical. Numerous monogenic causes of growth disorders have been identified.

Presenting problem: To present two brothers with familial spondyloepiphyseal dysplasia presenting with short stature and very low growth velocity starting at the age of 8 years. The older brother was the product of an uneventful pregnancy with a birth weight of 2950 gms. Father had short stature with a height of 161 cms and mother was of normal stature with a height of 163 cms. He grew along the 25th ile until the age of 8 years. Since then, growth rate decelerated to less than 3 cm/yr and height was at the 3rd percentile at the age of 11 years.

Clinical management: He was tested for growth hormone deficiency and peak growth hormone was 6 ng/ml. Growth hormone therapy with no good response. Reexamining the diagnosis and appreciating the low U/L ratio the possibility of spondyloepiphyseal dysplasia was raised and proven by the spine x-ray. Growth hormone therapy was discontinued and final height was 150 cm. The younger brother who was overweight, he also suffered low growth rate at the age of 10 years. His near final height is 150 cms. He did not undergo any growth hormone stimulation test and a spine x-ray revealed spondyloepipyseal dysplasia. Molecular analysis is pending.

Conclusion: Spondyloepiphyseal dysplasia should be considered as a rare cause of short stature. Of importance is that growth rate deceleration as well as skeletal asymmetry with low U/L segment occurs at the peripubertal age and thus it is not easy to diagnose in early childhood.

Disclosure: The authors declared no competing interests.