ESPE2024 Free Communications GH and IGFs (6 abstracts)
Stratifying genetic etiology in children born small for gestational age with persistent short stature (SGA-SS): 5-year growth hormone (GH) treatment outcomes in genetic subgroups
Barbora Jírová 1 , Ledjona Toni 1 , Petra Dušátková 1 , Shenali Amaratunga 1 , Filip Jeřábek 2 , Barbora Obermannová 1 , Stanislava Koloušková 1 , Štěpánka Průhová 1 , Marta Šnajderová 1 , Zdeněk Šumník 1 , Lukáš Plachý 1 & Jan Lebl 1
1Department of Pediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic. 22nd Faculty of Medicine, Charles University, Prague, Czech Republic
Background: The genetic etiology of SGA-SS spans from abnormalities of the GH-IGF-1 axis, growth plate disorders, and defective fundamental intracellular/intranuclear processes, to imprinting conditions. We recently elucidated the genetic etiology in a large cohort of 74 children SGA-SS (Toni L et al, Horm Res Pediat 2024; 97(1): 40-52). Of these, 49 have already completed five years of daily GH therapy.
Aim: To analyze 5-year GH treatment outcomes in distinct genetic subgroups of children SGA-SS.
Patients and methods: Genetic conditions affecting the GH-IGF-1 axis were identified in 10 children (OTX2, LHX4, PROKR2, PTCH1, POU1F1, HMGA2, IGFALS, IGF1R), growth plate disorders in 20 (ACAN, COL1A1, COL1A2, COL2A1, COL9A2, COL11A1, FLNB, MATN3, NPR2, SHOX), fundamental intracellular/intranuclear abnormalities in 9 (PTPN11, SOS1, CDC42, KMT2D, LMNA, SRCAP, TLK2, SOX9), and Silver-Russell syndrome (SRS) in 10 (11p15, UPD7). Daily GH administration (dose ranging about 33 mcg/kg/day) was initiated at age 3.8 (2.7 to 7.5) years (median, IQR) in GH-IGF-1 conditions, 5.4 (3.5 to 6.7) in growth plate disorders, 2.3 (1.8 to 3.1) in fundamental intracellular/intranuclear abnormalities, and 1.5 (1.1 to 2.5) in SRS.
Results: Following five years of daily treatment, height-SDS increased from -3.2 (-4.2 to -2.7; median, IQR) to -1.1 (-2.7 to -0.8; P <0.001) in GH-IGF-1 conditions, from -3.0 (-3.5 to 2.8) to -1.8 (-2.2 to -1.3; P <0.001) in growth plate disorders, from -3.4 (-3.6 to-2.6) to -2.1 (-2.6 to -1.2; P = 0.001) in children with fundamental intracellular/intranuclear abnormalities, and from -3.4 (-4.2 to -2.9) to -2.0 (-2.4 to -1.2; P <0.001) in SRS. The total 5-year median (IQR) height-SDS increment was 1.8 (1.3 to 2.3), 1.4 (1.3 to 1.9), 1.4 (0.7 to 2.0), and 1.7 (1.2 to 2.1) in the four genetic subgroups. The vast majority of children remained prepubertal within the 5-year treatment period, and pubertal growth had no apparent impact on their currently reported height outcomes.
Conclusion: Despite a few insignificant differences in treatment outcomes, daily GH treatment is effective in promoting growth and improving height in the first five years of therapy in all evaluated genetic subgroups of children SGA-SS.
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