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[Floating-Harbor syndrome: first case in Italy associated with growth hormone deficiency]
P Femiano1, V Castaldo, G Scarano
1Azienda Ospedaliera, Caserta U. O. di Pediatria Ospedale G. Moscati, Avellino. femianop@tin.it
Insights
Floating-Harbor Syndrome (FHS) is a rare condition. This case report highlights a boy with FHS and severe growth hormone (GH) deficiency, showing improved growth after GH treatment.
Area of Science:
- Pediatrics
- Genetics
- Endocrinology
Background:
- Floating-Harbor Syndrome (FHS) is a rare genetic disorder.
- Characterized by facial dysmorphism, speech delay, and short stature with delayed bone age.
Observation:
- A 9-year-old boy presented with typical FHS features and severe growth hormone (GH) deficiency.
- Measurements: weight 16 kg, height 112 cm, cranial circumference 53.8 cm.
- Insulin Tolerance Tests revealed insufficient GH peaks (2.7 ng/ml and 4.6 ng/ml).
Findings:
- The patient exhibited mild mental delay (IQ: 60) with language impairment.
- After one year of recombinant human GH (r-hGH) therapy (0.6 IU/kg/week), growth velocity increased by 11 cm/year.
- Height reached 123 cm and weight increased to 20.5 kg.
Implications:
- This case is the 22nd reported FHS case and the first in Italy.
- Demonstrates a significant association between GH deficiency and FHS.
- Highlights the beneficial effects of GH substitutive therapy in FHS patients with GH deficiency.
Abstract:
The Floating-Harbor Syndrome (FHS) is a rare entity characterised by a clinical triad: facial dysmorphism, retarded speech development and short stature with delayed bone age. The case of a 9-year and 8/12 months old boy showing the typical features of this syndrome associated to a severe GH deficiency is reported. At diagnosis of FHS, the weight was 16 kg (< 3 degrees percentile), height 112 cm (< 3 degrees percentile), cranial circumference 53.8 cm (> 90 degrees percentile). The evaluation of growth hormone secretion by two Insulin Tolerance Tests confirmed an insufficient GH peaks response (2.7 ng/ml and 4.6 ng/ml). He had a slight mental delay (IQ: 60) involving language skills. After 1 year of treatment with r-hGH (0.6 IU/kg/week), an increase in growth velocity (11 cm/year) in the length (123 cm), and in body weight (20.5) has been observed. This case is the 22nd report with this syndrome and the first in Italy. The association between GH deficiency and FHS, and the beneficial effects of a substitutive treatment are described.