ESPE Abstracts

Introduction: Patients with Floating-Harbor syndrome have broad spectrum of clinical presentation, but most of them have short stature, low birth weight, delayed bone age, delayed speech development, typical craniofacial features, anomaly of fingers and toes, cryptorchidism in males, renal anomalies, strabismus. Some of them are treated with growth hormone.

Case report: 4 year old male patient with mutation in SRCAP gene Gln2622Ter/- with short stature, with SGA (birth weight 2700g in 40Hbd), started growth hormone (rGH) therapy for SGA patients. Phenotype manifestation was typical in this patient, except renal abnormalities and criptorchidism. Patient’s bone age was significantly delayed (BA: 6 months). Tanner stage I and testis in scrutum were examined. Measurements before rGH therapy: Height 88,3cm, HSDS -4,29SD; body weight 10,5kg, BMI 13,5 kg/m²; BMI-SDS -1,46SD. Growth velocity (GV) before treatment was 3,4cm/year. After 12 months of rGH significant acceleration of GV was noticed: 8,7cm per year; measurements were respectively: height 97cm; HSDS -3,35; body weight 12,5kg, BMI 13,3 -1,59 SD; BA was between 9 and 12 months. The patient is continuing treatment till now, for 20 months. He is 6 year old boy now; growth velocity is actually 8,3cm per year; measurements are as follows: height 102,5cm; HSDS -2,86 SD; body weight 14kg; BMI 13,3 BMI-SDS -1,46 SD. In additional the evaluation of serum: TSH, IGF-1, BP-3, 25OHD, fasting glucose, HbA1c, Na, K, Ca, P, ALT, creatinine, total cholesterol, HDL-, LDL-cholesterol and triglicerides were performed before, after 12 and 20 months of rGH treatment. Serum TSH, 25OHD, HbA1c, Na, K were in the target range before and during the treatment. IGF-1 and BP-3 normalized during the treatment. Fasting glucose level elevated till normal value. Lipids profile and surum Ca and P improved after the rGH treatment, but not normalized. The evaluation of kidney and liver function did not reveal abnormality before and during rGH therapy. The rGH treatment was well tolerated all the time, none side effects were reported.

Conclusions: The rGH treatment in the male diagnosed with Floating-Harbor syndrome with short stature and SGA is safe and effective during 20 months of observation.