The Growth Characteristics of Patients with Noonan Syndrome: Results of Three Years of Growth Hormone Treatment: A Nationwide Multicenter Study

Abstract

Objective:Noonan syndrome (NS) is a multisystem disorder, and short stature is its most striking manifestation. Optimal growth hormone (GH) treatment for NS is still controversial. In this study, using a nationwide registration system, we aimed to evaluate the growth characteristics and the clinical features of NS patients in Turkey and their growth response to GH treatment.Methods:Children and adolescents with a diagnosis of NS were included inthe study. Laboratory assessment including standard GH stimulation test results were evaluated. Height increment of patients with or without GH treatment were analyzed after three years of therapy.Results:A total of 124 NS patients from different centers were entered in the web-based system. Short stature and typical face appearance were the most frequently encountered diagnostic features of our patients. Of the 84 patients who were followed long-term, 47 hadreceived recombinant human GH (rhGH). In this group of 47 patients, height standard deviation score (HSDS) increased from -3.62±1.14 to -2.85±0.96 after three years of therapy, indicating significant differences from the patients who did not receive GH treatment. PTPN11 gene was analyzed in 61 patients, and 64% of these patients were found to have a mutation. HSDS at admission was similar in patients with or without PTPN11 gene mutation.Conclusion:A diagnosis of NS should be kept in mind in all patients with short stature showing systemic clinical findings. GH therapy is effective for improvement of short stature especially in the first two years of treatment. Further studies are needed for optimisation of GH therapy and evaluation of final height data in NS patients.

Cardiac transplantation in children with Noonan syndrome

“…Given the very young age at which others were listed, we presume some may also have had gastrostomy tube placement after transplant. Use of growth hormone has been reported with some frequency in NS, but only one patient in this series was reported to have been placed on this therapy, after transplantation.…”

“…It would be speculative to presume that children with NS have any increased risk for PTLD, or any malignancy, when compared to the general pediatric heart transplant population. However, the occurrence of four malignancies in 18 total patients, in light of the previous report of hepatoblastoma in a patient with MAP2K1 ‐associated CFC, does raise concern for this possibility. Patients with NS should be considered to be higher risk for post‐transplant malignancy, based on these limited data, and monitored closely for potential EBV‐related and unrelated malignancy.…”

Neurodevelopmental Stimulation of a Child with a Noonan Syndrome with a Non-Frequent Mutation in RAF1 Gene — Case Report

“…Although a number of patients experience learning difficulties and a mild form of mental impairment, the diagnosis of NS does not predispose to mental disorders [17,18]. The assessment and work of a speech therapist are also necessary due to disturbances in the development of communication competencies [19,20].…”

Heterozygous Mutation of Noonan Syndrome in PTPN11 Genes

“…Şıklar ve ark. 'nın (1) (2) . Bazı klinik çalışmalarda, PTPN11 geninde mutasyon saptanan Noonan sendromlu olguların kısa boya, düşük IGF-1 düzeylerine ve normal veya yüksek büyüme hormonu düzeyleri-ne sahip olduğu gösterilmiştir (2,3) .…”

“…Bazı klinik çalışmalarda, PTPN11 geninde mutasyon saptanan Noonan sendromlu olguların kısa boya, düşük IGF-1 düzeylerine ve normal veya yüksek büyüme hormonu düzeyleri-ne sahip olduğu gösterilmiştir (2,3) . Ulusal Noonan sendromlu olgular incelendiğinde, 47 olgu büyüme hormonu tedavisi almış ve büyüme hormonu tedavisi alan olgularda önemli oranda boy kazancı sağlamıştır (1) . Olgumuza 45 mikrogram/kg/dozunda büyüme hormonu tedavisi başlandı ve 8 cm/yıl boy uzaması saptandı (Şekil 2).…”