Supplementary Material for: Near adult height and BMI changes in growth hormone treated short children with Noonan syndrome: the Belgian experience ...

Introduction A variable near adult height (NAH) outcome after growth hormone (GH) therapy in Noonan syndrome (NS) patients with short stature has been reported. The main objective of this study was to evaluate NAH and body mass index (BMI) evolution in a large Belgian cohort of NS patients treated for short stature. The secondary objectives were to investigate whether sex, genotype, the presence of a thoracic deformity and/or a heart anomaly might affect NAH and to validate the recently developed NAH prediction model by Ranke et al. Methods Clinical and auxological data of GH treated short NS... Mehr ...

Verfasser: J., DeSchepper
M., Thomas
K., Huysentruyt
M., Becker
E., Boros
K., Casteels
O., Chivu
K., DeWaele
H., Dotremont
P.A., Lysy
G., Massa
A.-S., Parent
A., Rochtus
I., Gies
Dokumenttyp: Dataset
Erscheinungsdatum: 2024
Verlag/Hrsg.: Karger Publishers
Schlagwörter: Medicine
Sprache: unknown
Permalink: https://search.fid-benelux.de/Record/base-29300319
Datenquelle: BASE; Originalkatalog
Powered By: BASE
Link(s) : https://dx.doi.org/10.6084/m9.figshare.25323052.v1

Introduction A variable near adult height (NAH) outcome after growth hormone (GH) therapy in Noonan syndrome (NS) patients with short stature has been reported. The main objective of this study was to evaluate NAH and body mass index (BMI) evolution in a large Belgian cohort of NS patients treated for short stature. The secondary objectives were to investigate whether sex, genotype, the presence of a thoracic deformity and/or a heart anomaly might affect NAH and to validate the recently developed NAH prediction model by Ranke et al. Methods Clinical and auxological data of GH treated short NS patients born before 2001 were extracted from the national Belgrow registry. NAH was available in 54 (35 male) genotyped NS using a gene panel of 9 genes, showing pathogenic variants in PTPN11 in 32 and in SOS1 in 5 patients, while in 17 patients gene panel analysis was inconclusive (no mutation group). Results After a median (P10; P90) duration of 5.4 (2.2-10.3) years of GH therapy with a median dose of 0.05 mg/kg/day ...