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Response to growth hormone therapy in ring chromosome 15: Review and evidence from a new case on possible beneficial
Selmen Wannes1, Ikram El Ahmer2, Khouloud Rjiba3
1Department of Pediatrics, Tahar Sfar University Hospital, 5100 Mahdia, Tunisia; Faculty of Medicine of Monastir, University of Monastir, 5019 Monastir, Tunisia; Department of Pediatrics, Mouwasat Hospital, Imam Al Termithy Street, Uhud, 32263 Dammam, Saudi Arabia; Applied Epidemiology in Maternal and child Health Research Laboratory (LR 12 SP 17), 5100, Tahar Sfar University Hospital, 5100 Mahdia, Tunisia.
Insights
Recombinant human growth hormone (rhGH) shows significant benefits for children with ring chromosome 15 (r(15)) syndrome, improving growth and intellectual performance. This study highlights rhGH efficacy in severe growth retardation cases.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Growth Disorders
Background:
- Type 1 Insulin-like Growth Factor Receptor (IGF1R) is crucial for growth; its disruption causes severe growth retardation and developmental delays.
- Pathogenic mutations in IGF1R, particularly ring chromosome 15 (r(15)) syndrome, present significant challenges for growth hormone (GH) therapy.
- Limited data exists on GH treatment efficacy for the most severe forms of IGF1R defects.
Conclusions:
- Growth hormone (GH) therapy appears effective in treating short stature associated with r(15) syndrome.
- GH treatment offers significant benefits for growth and potentially neurodevelopmental outcomes in r(15) syndrome patients.
Abstract:
Type 1 Insulin-like Growth Factor Receptor(IGF1R) plays a fundamental role in normal growth and development. Its disruption is usually characterized by severe intrauterine and postnatal growth retardation, microcephaly and neurodevelopmental delay.The efficacy of recombinant human growth hormone treatment remains a challenge for children with IGF1 resistance and pathogenic mutations of IGF1R, with limited data in patients carrying the most severe form of IGF1R defect, the ring chromosome 15.
Subject And Method:
We tested a high dose of rhGH in a new patient with ring chromosome 15, as confirmed by karyotype and CGH array. We performed a systematic review, and all published r(15) syndrome cases treated by growth hormone(GH) up to April 2023 were searched, and their response to GH therapy was recorded and summarized.
Results:
Twelve patients with ring chromosome 15 received GH therapy according to a literature review. We expand the spectrum by the 13th case treated by GH, and we report an impressive improvement in intellectual performance and progressive catch-up growth after 5 and 20 months of follow-up. By introducing our new case in the analysis, the sex ratio was 3:10, and GH therapy was started at the age of 5.5 (3/9.4) (years) for an age of diagnosis of 4.75 (1.3/9.5) (years). The height before GH therapy was -5.1(-5.9/-4.1) SDS. The median duration of treatment was 1.7(0.9/2) (years), with a median height gain of 1(0.3/1.8) SDS and an improvement in growth velocity of 4.1(2.8/5.3) (cm/year).
Conclusion:
GH seems to be effective for r(15) syndrome patients with short stature.
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