Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis.

Autor: Ertl DA; AP-HP, Department of Endocrinology and Diabetology for Children and Department of Adolescent Medicine, Bicêtre Paris-Saclay University Hospital, 78 Rue du Général Leclerc, 94270, Le Kremlin-Bicêtre, France. diana-alexandra.ertl@meduniwien.ac.at.; AP-HP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Filière OSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, 78 Rue du Général Leclerc, 94270, Le Kremlin-Bicêtre, France. diana-alexandra.ertl@meduniwien.ac.at.; University Paris Saclay, Le Kremlin-Bicêtre, France. diana-alexandra.ertl@meduniwien.ac.at.; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria. diana-alexandra.ertl@meduniwien.ac.at.; Reference Center for Rare Bone and Growth Disorders: Vienna Bone and Growth Center (ERN-BOND), Vienna, Austria. diana-alexandra.ertl@meduniwien.ac.at., Mantovani G; Endocrinology Unit, Department of Clinical Sciences and Community Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, University of Milan, Milan, Italy., de Nanclares GP; Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital, Vitoria-Gasteiz, Spain., Elli FM; Endocrinology Unit, Department of Clinical Sciences and Community Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, University of Milan, Milan, Italy., Pereda A; Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital, Vitoria-Gasteiz, Spain., Pagnano A; Endocrinology Unit, Department of Clinical Sciences and Community Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, University of Milan, Milan, Italy., Sanchis A; Pediatrics Service, Dysmorphology Consultation, Dr Peset University Hospital, Valencia, Spain., Cueto-Gonzalez AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Campus Hospital, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Barcelona Campus Hospital, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.; European Reference Network Craniofacial Anomalies and ENT Disorders (ERN CRANIO and ERN ITHACA), Barcelona, Spain., Berrade S; Section of Pediatric Endocrinology, Navarra Hospital Complex, Pamplona, Navarra, Spain., León MC; Pediatric Endocrinology Unit, CIBERER, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Rothenbuhler A; AP-HP, Department of Endocrinology and Diabetology for Children and Department of Adolescent Medicine, Bicêtre Paris-Saclay University Hospital, 78 Rue du Général Leclerc, 94270, Le Kremlin-Bicêtre, France.; AP-HP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Filière OSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, 78 Rue du Général Leclerc, 94270, Le Kremlin-Bicêtre, France.; University Paris Saclay, Le Kremlin-Bicêtre, France., Audrain C; AP-HP, Department of Endocrinology and Diabetology for Children and Department of Adolescent Medicine, Bicêtre Paris-Saclay University Hospital, 78 Rue du Général Leclerc, 94270, Le Kremlin-Bicêtre, France.; AP-HP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Filière OSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, 78 Rue du Général Leclerc, 94270, Le Kremlin-Bicêtre, France., Berkenou J; AP-HP, Department of Endocrinology and Diabetology for Children and Department of Adolescent Medicine, Bicêtre Paris-Saclay University Hospital, 78 Rue du Général Leclerc, 94270, Le Kremlin-Bicêtre, France.; AP-HP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Filière OSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, 78 Rue du Général Leclerc, 94270, Le Kremlin-Bicêtre, France., Knight N; Acrodysostosis Support and Research, Reg 1182818, London, UK., Dolman K; Acrodysostosis Support and Research, Reg 1182818, London, UK., Gleiss A; Center for Medical Statistics, Informatics, and Intelligent Systems, Medical University of Vienna, Vienna, Austria., Argente J; Department of Pediatrics and Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación la Princesa, Madrid, Spain.; Department of Pediatrics, Universidad Autónoma de Madrid, Madrid, Spain.; Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain.; IMDEA Food Institute, Madrid, Spain., Linglart A; AP-HP, Department of Endocrinology and Diabetology for Children and Department of Adolescent Medicine, Bicêtre Paris-Saclay University Hospital, 78 Rue du Général Leclerc, 94270, Le Kremlin-Bicêtre, France.; AP-HP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Filière OSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, 78 Rue du Général Leclerc, 94270, Le Kremlin-Bicêtre, France.; University Paris Saclay, Le Kremlin-Bicêtre, France.
Jazyk: angličtina
Zdroj: Journal of endocrinological investigation [J Endocrinol Invest] 2023 Aug; Vol. 46 (8), pp. 1673-1684. Date of Electronic Publication: 2023 Feb 07.
DOI: 10.1007/s40618-023-02026-2
Abstrakt: Introduction: 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).
Methods: We present auxological data from individuals with genetically characterized iPPSD4, and participants with clinical features of iPPSD5.
Results: 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).
Conclusion: 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.
(© 2023. The Author(s), under exclusive licence to Italian Society of Endocrinology (SIE).)
Databáze: MEDLINE
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