Recombinant Human Growth Hormone Therapy in Children with Chromosome 15q26 Deletion

Abstract

Background: The insulin-like growth factor 1 receptor (IGF IR) gene is located on chromosome 15q26.3. Heterozygous 15q26 deletions involving the IGFIR gene are rare, resulting in intrauterine and postnatal growth retardation, developmental delay and microcephaly. Limited evidence exists on the effect of growth hormone (GH) therapy in these cases. Methods: We report a series of cases with 15q26 deletions, including response to GH treatment. Results: Seven children (2 males) presented with short stature [median height standard deviation score (SDS) of -4.8 (range -3.0 to -5.6)]. GH was started at a median age of 5 years (range 1.8 to 12.4) for a median duration of 5.8 years (range 1.0 to 12.4). Median height SDS increased by +0.6 (range 0.1 to 1.0), +1.3 (range 0.1 to 2.4) and +1.4 (range 0.8 to 3.3) after 1 (n = 7), 5 (n = 4) and 10 years (n = 3) of GH treatment, respectively. Four patients reached final height after 5.8 to 12.4 years of GH with a median change in height SDS of +1.1 (range 0 to 3.3). Conclusion: This study demonstrates a moderate, though variable, response to GH therapy, suggesting that GH resistance caused by heterozygous IGFIR deletions can be partially overcome by GH therapy. The first-year response was moderate, and whilst long-term treatment improved height SDS, the final adult height remained reduced. Therefore, an individual trial of GH therapy may be appropriate in these patients.

15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review

“…Scoliosis and psychomotor delay in our patient would be explained by the CHD2 gene disruption. The Choi 2011 [16] Chui 2015 [17] Biggio Patients with 15q26 deletion need a multidisciplinary management, which includes endocrinological assessment evaluating also possible GH therapy [30], as well as cardiologic, orthopedic and psychomotor follow-up. The genetic counseling in our family was delicate since the parents refused to undergo the array CGH analysis that is important for a complete familiar counseling.…”

15q26 Deletion in a Patient with Congenital Heart Defect, Growth Restriction and Intellectual Disability: Case Report and Literature Review

“…15q26 monosomy should be considered when growth retardation is associated with clinodactyly and/or abnormal toe, heart defect mainly ASD/VSD and/or AAA. Care in patients with 15q26 deletion must be multidisciplinary with endocrinological follow-up and a possible GH therapy (30) , cardiovascular surgery cure, regular heart assessment, Neurosurgical treatment for scoliosis, Orthopaedic care, Psychomotor follow-up, speech therapy, educational and behavioral therapy.…”