Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis.
Acrodysostosis
Auxology
Inactivating PTH/PTHrP signaling disorders
Pediatric
Recombinant human growth hormone
SGA
Short stature
Journal
Journal of endocrinological investigation
ISSN: 1720-8386
Titre abrégé: J Endocrinol Invest
Pays: Italy
ID NLM: 7806594
Informations de publication
Date de publication:
Aug 2023
Aug 2023
Historique:
received:
08
09
2022
accepted:
25
01
2023
medline:
17
7
2023
pubmed:
8
2
2023
entrez:
7
2
2023
Statut:
ppublish
Résumé
Severe short stature is a feature of acrodysostosis, but data on growth are sparse. Treatment with recombinant human growth hormone (rhGH) is used in some centers to increase final height, but no studies have been published so far. Our objective was to conduct a multicenter, retrospective, cohort study to investigate growth in individuals with both types of acrodysostosis, treated with rhGH or not; we used the new nomenclature to describe acrodysostosis, as this disease belongs to the large group of inactivating PTH/PTHrP signaling disorders (iPPSD); acrodysostosis refers to iPPSD4 (acrodysostosis type 1 due to PRKAR1A mutations) and iPPSD5 (acrodysostosis type 2, due to PDE4D mutations). We present auxological data from individuals with genetically characterized iPPSD4, and participants with clinical features of iPPSD5. We included 20 and 17 individuals with iPPSD4 and iPPSD5, respectively. The rhGH-treated iPPSD4 patients (n = 9) were smaller at birth than those who did not receive rhGH (median - 2.2 SDS vs. - 1.7 SDS); they showed a trend to catch-up growth during rhGH therapy (median 0.5 SDS in the first year). The rhGH-treated patients (n = 5) reached a better final height compared to those who did not receive rhGH (n = 4) (median - 2.8 SDS vs. - 3.9 SDS), suggesting that rhGH is efficient to increase height in those patients. The difference in target height to final height ranged between 1.6 and 3.0 SDS for iPPSD4 not treated with rhGH (n = 4), 2.1-2.8 SDS for rhGH-treated iPPSD4 (n = 5), 0.6-5.5 SDS for iPPSD5 not treated with rhGH (n = 5) and 2.5-3.1 for rhGH-treated iPPSD5 (n = 2). Final height may be positively influenced by rhGH in patients with acrodysostosis/iPPSD. Our rhGH-treated cohort started therapy relatively late, which might explain, at least in part, the limited effect of rhGH on height.
Identifiants
pubmed: 36749450
doi: 10.1007/s40618-023-02026-2
pii: 10.1007/s40618-023-02026-2
doi:
Substances chimiques
Human Growth Hormone
12629-01-5
Growth Hormone
9002-72-6
Recombinant Proteins
0
Types de publication
Multicenter Study
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1673-1684Subventions
Organisme : European Regional Development Fund
ID : GV2021/111056
Organisme : Progetti di Ricerca di Interesse Nazionale
ID : 2020FYCCE3
Informations de copyright
© 2023. The Author(s), under exclusive licence to Italian Society of Endocrinology (SIE).
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