Effect of recombinant human insulin-like growth factor 1 therapy in a child with 3-M syndrome-1 with CUL7 gene mutation
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Ming Yang
Abstract
Objective
3-M syndrome is characterized by severe short stature, syndromic features, and characteristic radiographic findings. Growth hormone (GH) has been used with variable success. Recombinant human insulin like growth factor-1 (rhIGF-1) has never been utilized.
Case presentation
We describe a child with severe growth retardation, macrocephaly, and skeletal abnormalities with evidence of GH insensitivity subsequently treated with rhIGF-1. He developed morbid obesity and comorbidities including voracious appetite, acanthosis nigricans, tonsillar hypertrophy, and severe obstructive sleep apnea with minimal height improvement. Genetic testing done at 11.5 years revealed a compound heterozygous mutation (c.2112G>A(p.W704X) and c.2559delC) in the CUL7 gene consistent with 3-M syndrome-1. rhIGF-1 therapy was discontinued.
Conclusions
This case highlights the novel use of rhIGF-1 therapy on a child with 3-M syndrome-1 with minimal height benefit but accelerated weight gain and serves as a reminder of the importance of re-evaluating therapy efficacy and side effect profile.
Acknowledgment
The authors thank the patient, family members and all healthcare professionals contributing to the care of the child described here.
Research funding: The authors have no funding sources to disclose.
Author contributions: MY acquired data of the patient and drafted the manuscript. NP has evaluated and clinically managed the patient, arrived at the diagnosis of the patient, was responsible for the conception of the manuscript and critically revised the manuscript.
Competing interests: The authors have no conflicts of interest to declare.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: Patient identifiers or images are not published in this article.
References
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© 2020 Walter de Gruyter GmbH, Berlin/Boston
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Artikel in diesem Heft
- Frontmatter
- Review Article
- Papillary thyroid carcinoma in children with Hashimoto’s thyroiditis – a review of the literature between 2000 and 2020
- Original Articles
- Tyrosine metabolism in health and disease: slow-release amino acids therapy improves tyrosine homeostasis in phenylketonuria
- Evolution of Hashimoto thyroiditis in children with type 1 diabetes mellitus (TIDM)
- Glycated hemoglobin variability and microvascular complications in patients with type 1 diabetes mellitus
- Delineation of the genetic and clinical spectrum, including candidate genes, of monogenic diabetes: a multicenter study in South Korea
- Can we use copeptin as a biomarker for masked hypertension or metabolic syndrome in obese children and adolescents?
- Relationship of acanthosis nigricans with metabolic syndrome in obese children
- Daily intake of macronutrients and energy in childhood and its association with cardiometabolic risk factors in Colombians
- The effect of treatment with recombinant human growth hormone (rhGH) on linear growth and adult height in children with idiopathic short stature (ISS): a systematic review and meta-analysis
- Growth in achondroplasia, from birth to adulthood, analysed by the JPA-2 model
- Short Communication
- Assessing disparities in barriers to attending pediatric diabetes camp
- Letter to the Editor
- Severity in pediatric type 1 diabetes mellitus debut during the COVID-19 pandemic
- Case Reports
- The use of glimepiride for the treatment of neonatal diabetes mellitus caused by a novel mutation of the ABCC8 gene
- Effect of recombinant human insulin-like growth factor 1 therapy in a child with 3-M syndrome-1 with CUL7 gene mutation
- A nonsense variant in FGFR1: a rare cause of combined pituitary hormone deficiency
- Treatment response to long term antiresorptive therapy in osteogenesis imperfecta type VI: does genotype matter?
