Growth Hormone Deficiency: an unusual presentation of Floating Harbor Syndrome

Abstract

Floating-Harbor syndrome (FHs) is a very rare condition of unknown etiology characterized by short stature, delayed bone age, characteristic facial features, delayed language skills and usually normal motor development. this syndrome has only once been associated with growth hormone deficiency and precocious puberty in the same patient. We describe a 5 4 /12 year-old girl with the typical features of FHs in whom growth hormone deficiency was diagnosed and two years later central precocious puberty was noted. the patient showed a good response to human recombinant growth hormone as well as gonadotropin releasing hormone analogue treatment.

Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome

“…According to these studies, the modalities of GH therapy, age of onset, dose, treatment period, and results have been inconsistent. 4,6,8,13) In our case, the patient had normal IGF-1 level and no GH deficiency. After 55 months of GH therapy, her height SDS increased from -3.33 to -2.70 SDS, and her growth velocity was 6.2 cm/yr.…”

“…Only a few reports have explored the response to GH therapy with regard to final adult height. 8) We report a 4.5-yeartreatment course with GH therapy in a Korean girl with FHS and a heterozygous c.7330C > T (p.Arg2444*) mutation in SRCAP.…”

“…White et al 6) Garcia et al 13) Nagasaki et al 4) Galli-tsinopoulou et al 8 www.e-apem.org therapy and serum IGF-1 level (upper limit of the normal level during therapy). To date, over 100 FHS cases have been reported worldwide, and only a few of these patients were GH deficient.…”

“…To date, over 100 FHS cases have been reported worldwide, and only a few of these patients were GH deficient. 8,14) Table 2 summarizes the results of previous studies on GH therapy in FHS patients. According to these studies, the modalities of GH therapy, age of onset, dose, treatment period, and results have been inconsistent.…”

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

“…Two of our subjects have been assessed in more detail regarding this issue [9,10]. Some GH treated individuals with FSH had documented GH deficiency, while others had modest responses to treatment despite normal levels of GH [9,10,12]. Early puberty has previously been reported [13] in FHS and was documented in four individuals in our study.…”