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.
Case report: 4 year old male patient with mutation in SRCAP gene Gln2622Ter/- is followed up in our Pediatric Endocrinology Outpatient Clinic since he was one year of age. He was born small for gestation age, with birth weight 2700g in 40Hbd. Phenotype manifestation is: short stature( Z-score is -4,18); weight is in lower limit for age and height. Patient's bone age is significantly delayed (BA: 6 months). He shows some of typical craniofacial features, like triangular face, short philtrum, wide mouth with a thin vermilion border of the upper lip, low-set ears, long nose, furthermore strabismus, brachydactyly, clinodactyly, broad finger tips. He revealed speech development delay especially in verbal communication, but his speech understanding and general development was in quite good level. Assessment of thyroid showed euthyroidism with negative thyroid antibodies, in ultrasound scan thyroid volume was 1,43ml, bilaterally there were two central focal lesions up to 5x5,5mm, noticed and they will be followed up. GH levels were in normal ranges, with peak of 13,3ng/ml during spontaneous nocturnal test. During glucagon stimulation test hypoglycaemia was achieve -46mg/dl w 120 minute; GH peak was 11,9ng/ml. In the same test we estimated adrenal function cortisol peak was 601 nmol/l. In OGTT glucose levels were low at the begininng 55 mg/dl and elevated to 87mg/dl in 120' minute, insulin peak was 6,5uU/ml in 120' minute. During the OGTT massive glucosuria was revealed. We didn't find renal anomalies nor renal disfunction. Total cholesterol and LDL were elevated. Sexual development was adequate to age, Tanner stage I, testis 2ml, in scrutum. Pituitary MRI scans will be performed of and rGH treatment in nearest future will be started for SGA patient.
Conclusions: The patient with Floating-Harbor syndrome didn't revealed endocrinopaties, but SGA, short stature, bone age delay and glucosuria.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology