ArticleMolecular genetics & genomic medicine2023
Noonan syndrome: rhGH treatment and PTPN11 mutation.
Article in Molecular genetics & genomic medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.
- The Effects of Growth Hormone Treatment Beyond Growth Promotion in Patients with Genetic Syndromes: A Systematic Review of the Literature.International journal of molecular sciences · 2024Pooled it
- Case Report: Possible improvement of near-adult height with PEG-rhGH and letrozole in a late-puberty boy with atypical Noonan syndrome and bone age/height age discrepancy: a novel therapy.Frontiers in pediatrics · 2026Article
- Altered PTPN13-β-catenin interaction by pathogenic mutations and involvement of this axis in B-cell receptor signalling.Scientific reports · 2025Article
- Noonan Syndrome, Cancer Risk, and Growth Hormone TreatmentJournal of clinical research in pediatric endocrinology · 2025Review
- Genetic Variability in Child Growth Among South American Populations: A Perspective Integrating Population Genetics, Growth Standards, and Precision Growth Medicine.International journal of molecular sciences · 2025Review
- Genetic, neuropeptidergic, and cardiometabolic interplay in female central precocious puberty.Cardiovascular endocrinology & metabolism · 2025Review
- Eosinophilic gastroenteritis in a 14-year-old patient with Noonan syndrome with a PTPN11 variation: a case report.Journal of medical case reports · 2025Article
- [Growth and development patterns of Noonan syndrome and advances in the treatment of short stature].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- Mapping the current status and outlook of research on noonan syndrome over the last 26 years: a bibliometric and visual analysis.Frontiers in genetics · 2024Review
- Noonan syndrome: rhGH treatment and PTPN11 mutation.Molecular genetics & genomic medicine · 2023Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo analyze the clinical data and genetic characteristics of Noonan syndrome, both the effect and side effects of recombinant human growth hormone (rhGH) treatment.
methodsWe collected clinical data from 8 children with Noonan syndrome diagnosed from November 2017 to June 2021. The diagnosis was clarified by exome second-generation sequencing and parental PCR-NGS validation and interpretation of the preceding evidence, and growth hormone therapy was administered. Of the cases, four males and four females were seen for slow height growth and the median age at diagnosis was 8 years 7 months (1 year 7 months to 12 years 6 months).
resultsHere, 7 children were treated with rhGH. Compared to the pre-treatment period, the growth rate increased after rhGH treatment [3.7 ± 0.5 cm/year before treatment and 8.0 ± 1.0 cm/year after treatment, p < 0.01], with the maximum growth rate between 3 and 6 months of treatment and decreasing with the duration of treatment thereafter. The growth hormone treatment was discontinued and the orthopedic consultation was ordered with regular follow-up, which was considered to be related to the PTPN11 mutation.
conclusionNoonan syndrome is characterized by slow growth, short stature, mental retardation, peculiar facial features, structural heart abnormalities and abnormal bone metabolism. and osteochondroma was found after case 2 rhGH treatment. Genetic examination is mostly caused by PTPN11 mutation. It is recommended to pay attention to bone metabolism abnormalities before growth hormone treatment, especially in children with PTPN11 mutations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.