ESPE2015 Poster Category 3 Growth (51 abstracts)
The Growth Characteristics of Patients with Noonan Syndrome, and First 2 Years Results of GH Treatment: A Nationwide Multicentre Study
Zeynep Siklar a , Merih Berberoglu a , Mikayir Genens b , Sükran Poyrazoglu b , Firdevs Bas b , Feyza Darendeliler b , Rüveyde Bundak b , Zehra Aycan c , Senay Savas Erdeve c , Semra Cetinkaya c , Saygin Abali d , Zeynep Atay d , Serap Turan d , Cengiz Kara e , Gülay Can Yilmaz e , Nesibe Akyurek f , Ayhan Abaci g , Erkan Sari h , Ediz Yesilkaya h , Semih Bolu i , Huseyin Anil Korkmaz j , Enver Simsek k , Gönül Catli l , Atilla Cayir m , Olcay Evliyaglu n & Sukriye Pinar Isguven o
aFaculty of Medicine, Ankara University, Ankara, Turkey; bIstanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey; cDr Sami Ulus Child Health and Disease Training and Research Hospital, Ankara, Turkey; dFaculty of Medicine, Marmara University, Istanbul, Turkey; eFaculty of Medicine, Ondokuzmayis University, Samsun, Turkey; fDepartment of Pediatric Endocrinology and Diabetes, Konya Training and Research Hospital, Konya, Turkey; gFaculty of Medicine, Eylül University, Izmir, Turkey; hGulhane Military Medicine Academy, Ankara, Turkey; iFaculty of Medicine, Duzce University, Duzce, Turkey; jIzmir Dr Behcet Uz Children Disease and Surgery Training and Research Hospital, Izmir, Turkey; kFaculty of Medicine, Osmangazi University, Eskisehir, Turkey; lTepecik Training and Research Hospital, Izmir, Turkey; mErzurum Regional Training and Research Hospital, Erzurum, Turkey; nCerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey; oFaculty of Medicine, Sakarya University, Sakarya, Turkey
Introduction: Short stature is a common manifestation of Noonan syndrome (NS). GH deficiency, GH insensitivity, and neurosecretory dysfunction have been reported in the literature. The optimal GH treatment for NS is still controversial. In this study, we aimed to evaluate the growth characteristics in addition to clinical features of NS, and the growth response to GH treatment by using a nationwide registration system.
Material and methods: Children and adolescents with clinical (according to van der Burgt criteria) and/or genetic diagnosis with NS were included to study. Laboratory assessment including standard GH stimulation tests result were evaluated. Height increment of patients with or without GH treatment were analysed after two years therapy.
Results: A total of 99 patients with NS (68 males, 31 females) have been enrolled. On admission, the mean age of patients was 8.37±4.2 years, height S.D.s was −3.03±1.65, parentally adjusted height deficit was −2.25±1.73, and 30% of them were pubertal. The percentage of frequently seen clinical findings in NS were 77% short stature, 58% cardiac abnormalities, 59% criptorchidism, 34% chest deformity, 30% neuromotor developmental problem, and 23% ophtalmological disorders. GH stimulation tests were performed on 63 patients, and 40 of them showed suboptimal GH response (<10 ng/ml). 36 patients received rhGH (mean dose: 0.25±0.05 mg/kg per week). Height S.D.s increased from −3.69 to −2.85 after 2 years of therapy. Significant differences was observed according to nonGH-treated patients (n: 25) (P: 0.02) (Table). PTPN11 gene were analysed 45 of patients, and 29 of them (64%) had mutation. Height S.D.s at admission were similar in patients with or without PTPN11 gene mutation.
Conclusion: In the 1st year GH therapy, increase in ΔHeight SDS is observed as a positive effect. However this effect of therapy waned at the second year. We suggest that growth therapy optimisation is needed for this NS patients.
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