Research & Literature
Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.
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Inserm
Paris, France
Leiden University Medical Center
Leiden, The Netherlands
Leiden University
Leiden, The Netherlands
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
São Paulo, Brazil
Erasmus MC
Rotterdam, The Netherlands
Consejo Nacional de Investigaciones Científicas y Técnicas
Buenos Aires, Argentina
Children's National
Washington, United States
Tongji Hospital
Wuhan, China
University Medical Center Hamburg-Eppendorf
Hamburg, Germany
Uppsala University
Uppsala, Sweden
References
References (62)
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Clinical and Genetic Characterization of a Constitutional Delay of Growth and Puberty Cohort.
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Effect of growth hormone treatment on children with idiopathic short stature (ISS), idiopathic growth hormone deficiency (IGHD), small for gestational age (SGA) and Turner syndrome (TS) in a tertiary care center.
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Acta bio-medica : Atenei Parmensis 2020; (91(1)):29-40 doi:10.23750/abm.v91i1.9182.
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Metabolic insights from a GHSR-A203E mutant mouse model.
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Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.
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Rapid genome-wide sequencing in a neonatal intensive care unit: A retrospective qualitative exploration of parental experiences.
Aldridge CE, Osiovich H, Hal Siden H, et al.
Journal of genetic counseling 2021; (30(2)):616-629 doi:10.1002/jgc4.1353.
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Effect of Growth Hormone Secretagogue Receptor Deletion on Growth, Pulsatile Growth Hormone Secretion, and Meal Pattern in Male and Female Mice.
Labarthe A, Zizzari P, Fiquet O, et al.
Neuroendocrinology 2022; (112(3)):215-234 doi:10.1159/000516147.
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Disrupting the ghrelin-growth hormone axis limits ghrelin's orexigenic but not glucoregulatory actions.
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Molecular metabolism 2021; (53()):101258 doi:10.1016/j.molmet.2021.101258.
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Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion.
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Hormone research in paediatrics 2021; (94(3-4)):81-104 doi:10.1159/000516407.
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Ghrelin Gene Deletion Alters Pulsatile Growth Hormone Secretion in Adult Female Mice.
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Investigating whether serum IGF-1 and IGFBP-3 levels reflect the height outcome in prepubertal children upon rhGH therapy: LG growth study database.
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Decreased Thyroxine Levels during rhGH Therapy in Children with Growth Hormone Deficiency.
Witkowska-Sędek E, Kucharska AM, Rumińska M, et al.
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Quality of Life of Children and Adolescents with Short Stature: The Twofold Contribution of Physical Growth and Adaptive Height-Related Cognitive Beliefs.
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Long-acting PEGylated growth hormone in children with idiopathic short stature: time to reconsider our diagnostic and treatment policy?
Wit JM, Joustra SD
European journal of endocrinology 2023; (188(1)) doi:10.1093/ejendo/lvac005.
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A Genetic Approach in the Evaluation of Short Stature.
Turkyilmaz A, Donmez AS, Cayir A
The Eurasian journal of medicine 2022; (54(Suppl1)):179-186 doi:10.5152/eurasianjmed.2022.22171.
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Isolated growth hormone deficiency in children with vertically transmitted short stature: What do the genes tell us?
Plachy L, Amaratunga SA, Dusatkova P, et al.
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Effects of early recombinant human growth hormone treatment in young Chinese children with Prader-Willi syndrome.
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Treatment burden, adherence, and quality of life in children with daily GH treatment in France.
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The benefit of rhGH therapy in a Chinese child with 12q14 microdeletion syndrome: a case report.
Ping Y, Luo L, Chen Y, et al.
Journal of pediatric endocrinology & metabolism : JPEM 2023; (36(8)):798-802 doi:10.1515/jpem-2023-0060.
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Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case Report.
Biagetti B, Valenzuela I, Campos-Martorell A, et al.
Diagnostics (Basel, Switzerland) 2023; (13(13)) doi:10.3390/diagnostics13132259.
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Characterization of Somatotrope Cell Expansion in Response to GHRH in the Neonatal Mouse Pituitary.
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Endocrinology 2023; (164(10)) doi:10.1210/endocr/bqad131.
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Development of a Minimum Dataset for the Monitoring of Recombinant Human Growth Hormone Therapy in Children with Growth Hormone Deficiency: A GloBE-Reg Initiative.
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Hormone research in paediatrics 2024; (97(4)):365-373 doi:10.1159/000533763.
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Adherence and quality of life in children receiving rhGH treatment.
Gonzalez-Briceño L, Viaud M, Polak M
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2022; (28(8S1)):8S3-8S8 doi:10.1016/S0929-693X(22)00036-7.
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Genetic or pharmacological GHSR blockade has sexually dimorphic effects in rodents on a high-fat diet.
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Growth hormone treatment in children with short stature: impact of the diagnosis on parents.
Witt S, Bloemeke J, Bullinger M, et al.
Journal of pediatric endocrinology & metabolism : JPEM 2024; (37(4)):326-335 doi:10.1515/jpem-2023-0420.
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Children With Idiopathic Short Stature: An Expanding Role for Genetic Investigation in Their Medical Evaluation.
Cohen LE, Rogol AD
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2024; (30(7)):679-686 doi:10.1016/j.eprac.2024.04.009.
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Evolving growth hormone deficiency: proof of concept.
Chimatapu SN, Sethuram S, Samuels JG, et al.
Frontiers in endocrinology 2024; (15()):1398171 doi:10.3389/fendo.2024.1398171.
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Genetic or pharmacological GHSR blockade has sexually dimorphic effects in rodents on a high-fat diet.
Lékó AH, Gregory-Flores A, Marchette RCN, et al.
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Genetic Findings in Short Turkish Children Born to Consanguineous Parents.
Joustra SD, Joustra SD, Isik E, et al.
Hormone research in paediatrics 2025; (98(5)):532-542 doi:10.1159/000539696.
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Response to Recombinant Human Growth Hormone (rhGH) Therapy in Children with Growth Hormone Deficiency.
Riaz M, Ibrahim MN, Rai VR, et al.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2024; (34(8)):932-935 doi:10.29271/jcpsp.2024.08.932.
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The role of IGF1 in determining body composition in children and adolescents with growth hormone deficiency and those with idiopathic short stature.
Zaitoon H, Yackobovitch-Gavan M, Midlej E, et al.
Endocrine 2024; (86(3)):1110-1120 doi:10.1007/s12020-024-03992-0.
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Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I.
Punt LD, Kooijman S, Mutsters NJM, et al.
The Journal of clinical endocrinology and metabolism 2025; (110(5)):e1303-e1314 doi:10.1210/clinem/dgaf010.
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Biological effects of recombinant human growth hormone therapy on metabolism in children with growth hormone deficiency: a review.
Dyrka K, Łachut K, Kolesińska Z, et al.
Journal of pediatric endocrinology & metabolism : JPEM 2025; (38(8)):796-806 doi:10.1515/jpem-2025-0057.
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Identifying the Impacts, Obstacles and Information Barriers for Parents of Children Living With Genetic Neurodevelopmental Disorders: A Qualitative Study.
Low KJ, , Treneman-Evans G, et al.
Health expectations : an international journal of public participation in health care and health policy 2025; (28(4)):e70340 doi:10.1111/hex.70340.
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Insulin Like Growth Factor-1 as a Screening Tool to Differentiate Between Idiopathic Short Stature and Growth Hormone Deficiency.
Khadilkar V, Karguppikar M, Bhalerao A, et al.
Indian journal of pediatrics 2025; (92(10)):1098-1100 doi:10.1007/s12098-025-05687-4.
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants.
Richardson ME, Bishop MFH, Holdren MA, et al.
American journal of human genetics 2025; (112(10)):2266-2280 doi:10.1016/j.ajhg.2025.08.020.
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Fathers' and Mothers' support needs and support experiences after rapid genome sequencing.
Dolling H, Rowitch S, Bromham M, et al.
European journal of human genetics : EJHG 2026; (34(2)):260-269 doi:10.1038/s41431-025-01987-7.
PMID: 41326621 - 53
Growth hormone treatment outcomes in children with genetic isolated growth hormone deficiency.
Aouchiche K, Castets S, Oliver Petit I, et al.
European journal of pediatrics 2025; (184(12)):812 doi:10.1007/s00431-025-06661-0.
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International guideline on genetic testing of children with short stature.
Dauber A, Jorge AAL, Nilsson O, et al.
European journal of endocrinology 2026; (194(2)):R17-R36 doi:10.1093/ejendo/lvag013.
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Growth hormone deficiency, bullying victimization, and associations with treatment status: a pediatric case-control study.
Kocabey Sutcu Z, Caliskan Y, Aytaç Kaplan EH
Journal of pediatric psychology 2026; (51(7)):612-620 doi:10.1093/jpepsy/jsag022.
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Unraveling the Genetic Heterogeneity of Isolated Growth Hormone Deficiency: Insights from the GENHYPOPIT Cohort.
Aouchiche K, Romanet P, Charnay T, et al.
Hormone research in paediatrics 2026; 1-12 doi:10.1159/000551700.
PMID: 42054264 - 57
Predictors of Response to Growth Hormone Therapy in Children with Idiopathic Growth Hormone Deficiency: A Narrative Review.
Cammisa I, De Fortuna G, Rulli E, et al.
Children (Basel, Switzerland) 2026; (13(4)) doi:10.3390/children13040545.
PMID: 42073123 - 58
Nutritional Status of Children with Short Stature Is Oppositely Associated with Growth Hormone Peak in Stimulation Tests and Insulin-like Growth Factor-1 Concentration.
Smyczyńska J, Smyczyńska U, Hilczer M, Stawerska R
Journal of clinical medicine 2026; (15(9)) doi:10.3390/jcm15093333.
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Phenotypic and genotypic analysis of pediatric patients with congenital isolated growth hormone deficiency resulting from biallelic variants in the GHRHR gene: a Belgian registry study.
Van de Velde S, Boros E, Brunelle C, et al.
European journal of pediatrics 2026; (185(6)).
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Pituitary developmental gene defects and their contribution to growth hormone deficiency.
Aouchiche K, Reynaud R, Charnay T, et al.
Annales d'endocrinologie 2026; (87(6)):102581 doi:10.1016/j.ando.2026.102581.
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Efficacy of Low Insulin-Like Growth Factor-1 Levels and a Single Insulin Tolerance Test in Diagnosing Growth Hormone Deficiency.
Yuenyong C, Lerdrassameethad W, Srilanchakon K
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2026; (58(10)):399-405 doi:10.1055/a-2930-3751.
PMID: 42600633 - 62
Interpretation of genome sequencing results in children with complex neuromotor phenotypes.
Friedman JM, Lehman A, Guimond C, et al.
Med (New York, N.Y.) 2026; 101330 doi:10.1016/j.medj.2026.101330.
PMID: 42880292