Journal article
Treatment of Short Stature in Aggrecan-deficient Patients With Recombinant Human Growth Hormone: 1-Year Response
The journal of clinical endocrinology and metabolism, Vol.107(5), pp.E2103-E2109
04/19/2022
DOI: 10.1210/clinem/dgab904
PMCID: PMC9432476
PMID: 34922359
Abstract
Context Patients with aggrecan (ACAN) deficiency present with dominantly inherited short stature, often with advanced skeletal maturation and premature growth cessation. There is a paucity of information on the effects of growth-promoting interventions. Objective The aim of this study was to evaluate the efficacy and safety of recombinant human growth hormone (rhGH) therapy on linear growth in children with ACAN deficiency. Methods Open-label, single-arm, prospective study at Cincinnati Children's Hospital Medical Center. Ten treatment-naive patients were recruited. Inclusion criteria were a confirmed heterozygous mutation in ACAN, age >= 2 years, prepubertal, bone age (BA) >= chronological age (CA), and normal insulin-like growth factor I concentration. Treatment was with rhGH (50 mu g/kg/day) over 1 year. Main outcomes measured were height velocity (HV) and change in (Delta) height SD score (HtSDS). Results Ten patients (6 females) were enrolled with median CA of 5.6 years (range 2.4-9.7). Baseline median HtSDS was -2.5 (range -4.3 to -1.1). Median baseline BA was 6.9 years (range 2.5-10.0), with median BA/CA of 1.2 (range 0.9-1.5). Median pretreatment HV was 5.2 cm/year (range 3.8-7.1), increased to 8.3 cm/year (range 7.3-11.2) after 1 year of therapy (P = .004). Median Delta HtSDS after 1 year was +0.62 (range +0.35 to +1.39) (P = .002). Skeletal maturation did not advance inappropriately (median Delta BA/CA -0.1, P = .09). No adverse events related to rhGH were observed. Conclusion Treatment with rhGH improved linear growth in a cohort of patients with short stature due to ACAN deficiency.
Details
- Title: Subtitle
- Treatment of Short Stature in Aggrecan-deficient Patients With Recombinant Human Growth Hormone: 1-Year Response
- Creators
- Gajanthan Muthuvel - Cincinnati Children's Hospital Medical CenterAndrew Dauber - Children's NationalEirene Alexandrou - University of IowaLeah Tyzinski - Cincinnati Children's Hospital Medical CenterMelissa Andrew - Children's NationalVivian Hwa - Cincinnati Children's Hospital Medical CenterPhilippe Backeljauw - Cincinnati Children's Hospital Medical Center
- Resource Type
- Journal article
- Publication Details
- The journal of clinical endocrinology and metabolism, Vol.107(5), pp.E2103-E2109
- DOI
- 10.1210/clinem/dgab904
- PMID
- 34922359
- PMCID
- PMC9432476
- NLM abbreviation
- J Clin Endocrinol Metab
- ISSN
- 0021-972X
- eISSN
- 1945-7197
- Publisher
- Endocrine Soc
- Number of pages
- 7
- Grant note
- ISS 001152 / Novo Nordisk Inc; Novo Nordisk
- Language
- English
- Date published
- 04/19/2022
- Academic Unit
- Endocrinology and Diabetes; Stead Family Department of Pediatrics
- Record Identifier
- 9984354051602771
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