Growth hormone therapy and near-final height in SHOX deficiency and turner syndrome: a real-world single-center retrospective cohort study

Creative Commons License

OKTAY M. A., DÖĞER E., KILINÇ UĞURLU A., Kayhan G., YİRMİBEŞ KARAOĞUZ M., ÇAMURDAN M. O., ...Daha Fazla

European Journal of Pediatrics, cilt.185, sa.7, 2026 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 185 Sayı: 7
  • Basım Tarihi: 2026
  • Doi Numarası: 10.1007/s00431-026-07135-7
  • Dergi Adı: European Journal of Pediatrics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CINAHL, EMBASE, MEDLINE, Academic Search Ultimate (EBSCO), Biomedical Reference Collection: Corporate Edition (EBSCO), Health Research Premium Collection (ProQuest)
  • Anahtar Kelimeler: Growth hormone therapy, Near final height, SHOX deficiency, Turner syndrome
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Gazi Üniversitesi Adresli: Evet

Özet

Short stature homeobox‐containing (SHOX)-gene haploinsufficiency causes short stature both in isolated SHOX deficiency and in Turner syndrome (TS), yet head-to-head data on growth-hormone (GH) outcomes remain scarce. We therefore compared growth response and near-final height (NFH) after GH therapy between girls with SHOX deficiency and those with TS. Single-centre retrospective cohort study. In this single-centre retrospective cohort, we reviewed 44 pre-pubertal girls who received daily GH (mean 0.045 mg/kg/day) between 2015 and 2024 and subsequently reached NFH (bone age ≥ 14 y; height velocity < 2 cm/year). Ten had molecularly confirmed SHOX deficiency and 34 had karyotype-proven TS. Baseline auxology, annual height velocity, pubertal timing, treatment duration, NFH standard-deviation score (SDS) and total height SDS gain were analysed. Mean chronological and bone ages at GH initiation were similar (10.7 ± 1.9 vs 10.4 ± 2.7 years). Baseline height SDS was lower in TS (–3.51 ± 1.0) than in SHOX (–2.66 ± 0.8). First-year growth velocity was higher in SHOX (8.55 ± 1.4 cm/year) than TS (6.72 ± 1.9 cm/year; p = 0.01). Puberty began earlier in SHOX (11.6 ± 1.3 years) than TS (13.7 ± 1.5 years; p < 0.01), and GH exposure was shorter (2.00 ± 0.4 vs 4.38 ± 2.3; p < 0.01). Observed NFH-SDS was similar between groups (SHOX − 2.46 ± 1.2 vs TS − 2.47 ± 1.0). Unadjusted height-SDS gain was greater in TS (1.04 ± 0.1 vs 0.20 ± 0.2;p = 0.04). In exploratory ANCOVA models adjusting for baseline age, baseline height SDS, and GH treatment duration, adjusted height-SDS gain did not differ significantly between groups. Conclusions: TS was associated with a greater unadjusted height-SDS gain, whereas SHOX deficiency was characterized by earlier puberty and shorter GH exposure. Although observed NFH-SDS was similar, these findings highlight how differences in pubertal timing and treatment duration may influence growth outcomes in routine clinical practice and should be interpreted as reflecting real-world growth trajectories rather than intrinsic biological responsiveness to GH therapy. (Table presented.)