Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome

Author(s):Show less -

Malaquias, Alexsandra C. ^{[1, 2]} ; Noronha, Renata M. ^{[1, 2]} ; Souza, Thaiana T. O. ^[2] ; Homma, Thais K. ^{[1, 3]} ; Funari, Mariana F. A. ^[3] ; Yamamoto, Guilherme L. ^[4] ; Silva, Fernanda Viana ^[1] ; Moraes, Michelle B. ^[4] ; Honjo, Rachel S. ^[4] ; Kim, Chong A. ^[4] ; Nesi-Franca, Suzana ^[5] ; Carvalho, Julienne A. R. ^[5] ; Quedas, Elisangela P. S. ^[1] ; Bertola, Debora R. ^[4] ; Jorge, Alexander A. L. ^{[1, 3]}

Affiliation

^[1] Univ Sao Paulo, Fac Med, Disciplina Endocrinol, Unidade Endocrinol Genet, LIM 25, Sao Paulo - Brazil

^[2] Fac Ciencias Med Santa Casa Sao Paulo, Dept Pediat, Sao Paulo - Brazil

^[3] FMUSP, Hosp Clin, Unidade Endocrinol Desenvolvimento, Lab Hormonios & Genet Mol LIM 42, Sao Paulo - Brazil

^[4] FMUSP, Inst Crianca, Unidade Genet, Sao Paulo - Brazil

^[5] Univ Fed Parana, Unidade Endocrinol Pediat, Dept Pediat, Curitiba, Parana - Brazil

• Document type: Journal article
• Source: Hormone Research in Paediatrics; v. 91, n. 4, p. 252-261, 2019.
• Web of Science Citations: 0

Abstract

Objectives: The aim of this study was to evaluate the response to recombinant human growth hormone (rhGH) treatment in patients with Noonan syndrome (NS). Materials and Methods: Forty-two patients (35 PTPN11+) were treated with rhGH, and 17 were followed-up until adult height. The outcomes were changes in growth velocity (GV) and height standard deviation scores (SDS) for normal (height-CDC SDS) and Noonan standards (height-NS SDS). Results: The pretreatment chronological age was 10.3 +/- 3.5 years. Height-CDC SDS and height-NS SDS were -3.1 +/- 0.7 and -0.5 +/- 0.6, respectively. PTPN11+ patients had a better growth response than PTPN11- patients. GV SDS increased from -1.2 +/- 1.8 to 3.1 +/- 2.8 after the first year of therapy in PTPN11+ patients, and from -1.9 +/- 2.6 to -0.1 +/- 2.6 in PTPN11- patients. The gain in height-CDC SDS during the first year was higher in PTPN11+ than PTPN11- (0.6 +/- 0.4 vs. 0.1 +/- 0.2, p = 0.008). Similarly, the gain was observed in height-NS SDS (0.6 +/- 0.3 vs. 0.2 +/- 0.2, respectively, p < 0.001). Among the patients that reached adult height (n = 17), AH-CDC SDS and AH-NS SDS were -2.1 +/- 0.7 and 0.7 +/- 0.8, respectively. The total increase in height SDS was 1.3 +/- 0.7 and 1.5 +/- 0.6 for normal and NS standards, respectively. Conclusions: This study supports the advantage of rhGH therapy on adult height in PTPN11+ patients. In comparison, PTPN11- patients showed a poor response to rhGH. However, this PTPN11- group was small, preventing an adequate comparison among different genotypes and no guarantee of response to therapy in genes besides PTPN11. (C) 2019 S. Karger AG, Basel (AU)

• FAPESP's process: 14/09410-0 - Analysis of the lipids and carbohydrates metabolisms in Noonan syndrome patients
• Grantee: Alexsandra Christianne Malaquias de Moura Ribeiro
• Support Opportunities: Regular Research Grants