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


CONCLUSIONS
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. © 2015 S. Karger AG, Basel.
Department of Paediatric Endocrinology, Leicester Royal Infirmary, Leicester, UK.
Sheau Chui
SC
Ho
Peter
P
Clayton
Pradeep
P
Vasudevan
James
J
Greening
Barbara
B
Wardhaugh
Nick
N
Shaw
Christopher
C
Kelnar
Jeremy
J
Kirk
Wolfgang
W
Högler