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Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations.
Ertl, Diana-Alexandra; de Nanclares, Guiomar Perez; Jüppner, Harald; Hanna, Patrick; Pagnano, Angela; Pereda, Arrate; Rothenbuhler, Anya; Del Sindaco, Giulia; Ruiz-Cuevas, Pilar; Audrain, Christelle; Escribano, Arancha; Berkenou, Jugurtha; Gleiss, Andreas; Mantovani, Giovanna; Linglart, Agnès.
Afiliación
  • Ertl DA; Department of Endocrinology and Diabetology for Children and Department of Adolescent Medicine, AP-HP, Bicêtre Paris-Saclay University Hospital, 94270 Le Kremlin-Bicêtre, France.
  • de Nanclares GP; Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, AP-HP, Filière OSCAR and Platform of expertise for rare diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, 94270 Le Kremlin-Bicêtre, France.
  • Jüppner H; Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, 1090 Vienna, Austria.
  • Hanna P; Reference Center for Rare Bone and Growth Disorders, Vienna Bone and Growth Center (ERN-BOND), 1090 Vienna, Austria.
  • Pagnano A; Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital, 01009 Vitoria-Gasteiz, Spain.
  • Pereda A; Department of Medicine, Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, United States.
  • Rothenbuhler A; Department of Endocrinology and Diabetology for Children and Department of Adolescent Medicine, AP-HP, Bicêtre Paris-Saclay University Hospital, 94270 Le Kremlin-Bicêtre, France.
  • Del Sindaco G; Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, AP-HP, Filière OSCAR and Platform of expertise for rare diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, 94270 Le Kremlin-Bicêtre, France.
  • Ruiz-Cuevas P; Department of Medicine, Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, United States.
  • Audrain C; Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
  • Escribano A; Department of Clinical Sciences and Community Health, University of Milan, 20122 Milan, Italy.
  • Berkenou J; Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital, 01009 Vitoria-Gasteiz, Spain.
  • Gleiss A; Department of Endocrinology and Diabetology for Children and Department of Adolescent Medicine, AP-HP, Bicêtre Paris-Saclay University Hospital, 94270 Le Kremlin-Bicêtre, France.
  • Mantovani G; Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, AP-HP, Filière OSCAR and Platform of expertise for rare diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, 94270 Le Kremlin-Bicêtre, France.
  • Linglart A; Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Eur J Endocrinol ; 189(1): 123-131, 2023 Jul 20.
Article en En | MEDLINE | ID: mdl-37440712
BACKGROUND: Maternal inactivating GNAS mutations lead to pseudohypoparathyroidism 1A (PHP1A), newly classified as inactivating parathyroid hormone (PTH)/PTHrP-signaling disorder type 2 of maternal inheritance (iPPSD2). Patients present with resistance to PTH and other hormones, subcutaneous ossifications, brachydactyly, short stature, and early-onset obesity. They can be born small for gestational age (SGA) and may present with growth hormone (GH) deficiency. The use of recombinant human GH (rhGH) therapy has been sporadically reported, yet we lack data on the long-term efficacy and safety of rhGH, as well as on adult height. OBJECTIVE: Our multicenter, retrospective, observational study describes growth in patients treated with rhGH in comparison with untreated iPPSD2/PHP1A controls. METHODS: We included 190 patients, of whom 26 received rhGH. Height, weight, body mass index at various time points, and adult height were documented. We analyzed the effect of rhGH on adult height by using linear mixed models. RESULTS: Adult height was available for 11/26 rhGH-treated individuals and for 69/164 controls. Patients treated with rhGH showed a gain in height of 0.7 standard deviation scores (SDS) after 1 year (CI +0.5 to +0.8, P < .001) and of 1.5 SDS after 3 years (CI +1.0 to +2.0, P < .001). Additionally, there was a clear beneficial impact of rhGH on adult height when compared with untreated controls, with a difference of 1.9 SDS (CI +1.1 to +2.7, P < .001). Body mass index SDS did not vary significantly upon rhGH therapy. CONCLUSION: Recombinant human growth hormone treatment of iPPSD2/PHP1A patients with short stature improves growth and adult height. More studies are needed to confirm long-term efficacy and safety.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Seudohipoparatiroidismo / Hormona de Crecimiento Humana / Enanismo Hipofisario / Hipopituitarismo Tipo de estudio: Clinical_trials / Observational_studies / Prognostic_studies Límite: Adult / Humans Idioma: En Revista: Eur J Endocrinol Asunto de la revista: ENDOCRINOLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Seudohipoparatiroidismo / Hormona de Crecimiento Humana / Enanismo Hipofisario / Hipopituitarismo Tipo de estudio: Clinical_trials / Observational_studies / Prognostic_studies Límite: Adult / Humans Idioma: En Revista: Eur J Endocrinol Asunto de la revista: ENDOCRINOLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Reino Unido