ESPE Abstracts

Background: Floating Harbor syndrome (FGS) is a dominant autosomal genetic disorder characterized by facial dysmorphism, delay in language development and short stature associated with delayed bone age. Currently there are about 100 cases reported worldwide. Although the short stature is one of the main features of the FHS, its etiology is poorly understood. A limited number of cases reported growth hormone deficiency as a cause of short stature in FHS and the evolution during treatment.

Objective and hypotheses: The aim is to present the evolution during somatropinum treatment of a case with FHS and short stature due to GH deficiency.

Method: Case report.

Results: We present the case of a boy aged 9.8 years, followed in our Endocrinological Department since the age of 3.3 years for severe short stature (−4 S.D.) due to GH deficiency (maximum GH during Clonidine stimulation test 8.77 ng/ml and low IGF-I levels) for which he received treatment with somatropinum. The patient presents also with delayed bone age (1.5 years) with particular phenotypic features for FHS, delay in language development, hypospadias and astigmatism. Genetic evaluation showed that patient tested positive for SRCAP mutation. It was established treatment with GH 0.035 μg/day. The initial response to somatropinum treatment (0.035 mg/kgc per zi) was favorable with an increase of 1.7 S.D. during first 2.5 years of treatment. Subsequently the response to treatment decreased and SDS for height did not additionaly improved although the IGF1 levels were increased and IGFBP3 level were at the upper limit of normal values. However the attempt to discontinue the somatropinum treatment was followed by a stationary height.

Conclusion: This case suggests that growth hormone deficiency may be a cause of short stature in FHS patients. However the response to somatopinum treatment and long-term evolution should by clarified by further study.