ReviewNature reviews. Endocrinology2010
Genetic causes and treatment of isolated growth hormone deficiency-an update.
Review in Nature reviews. Endocrinology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 105 citations in OpenAlex.
- Unraveling the Genetic Heterogeneity of Isolated Growth Hormone Deficiency: Insights from the GENHYPOPIT Cohort.Hormone research in paediatrics · 2026Article
- Familial short stature: genetic architecture, risk stratification, and precision management.Frontiers in endocrinology · 2026Review
- Article
- Growth hormone treatment outcomes in children with genetic isolated growth hormone deficiency.European journal of pediatrics · 2025Article
- Evaluation of thyrotrophic and lactotrophic reserves in patients with pituitary dwarfism with and without empty sella turcica.Journal of pediatric endocrinology & metabolism : JPEM · 2025Article
- Functional study of two siblings with isolated growth hormone deficiency and pituitary MR imaging abnormalities caused by a novel HESX1 variant.Endocrine · 2025Article
- Review
- Isolated Growth Hormone Deficiency IA due to a Novel Homozygous Large Deletion ∼1.6 kb Spanning Exons 1-4 of GH1 Gene: A Case Report.Clinical case reports · 2025Article
- Common and Uncommon Mouse Models of Growth Hormone Deficiency.Endocrine reviews · 2024Review
- Severe Growth Hormone Deficiency in an Indian Boy Caused by a Novel 6 kb Homozygous Deletion Spanning theJournal of clinical research in pediatric endocrinology · 2024Article
- Phenotype-Genotype Correlations of GH1 Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency.Hormone research in paediatrics · 2024Article
- Global changes in chromatin accessibility and transcription in growth hormone-secreting pituitary adenoma.Endocrine · 2022Article
- Novel Insights Into the Genetic Causes of Short Stature in Children.TouchREVIEWS in endocrinology · 2022Review
- Cushing disease due to a somaticArchives of endocrinology and metabolism · 2022Article
- New insight into the importance of formulation variables on parenteral growth hormone preparations: potential effect on the injection-site pain.Frontiers in endocrinology · 2022Review
- Article
- Advances in differential diagnosis and management of growth hormone deficiency in children.Nature reviews. Endocrinology · 2021Review
- Isolated growth hormone deficiency type IA due to a novel GH1 variant: a case report.BMC medical genomics · 2021Article
- Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.The Journal of clinical endocrinology and metabolism · 2021Article
- Insights into non-classic and emerging causes of hypopituitarism.Nature reviews. Endocrinology · 2021Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Isolated growth hormone deficiency is the most common pituitary hormone deficiency and can result from congenital or acquired causes, although the majority of cases are idiopathic with no identifiable etiology. Known genes involved in the genetic etiology of isolated growth hormone deficiency include those that encode growth hormone (GH1), growth-hormone-releasing hormone receptor (GHRHR) and transcription factor SOX3. However, mutations are identified in a relatively small percentage of patients, which suggests that other, yet unidentified, genetic factors are involved. Among the known factors, heterozygous mutations in GH1 remain the most frequent cause of isolated growth hormone deficiency. The identification of mutations has clinical implications for the management of patients with this condition, as individuals with heterozygous GH1 mutations vary in phenotype and can, in some cases, develop additional pituitary hormone deficiencies. Lifelong follow-up of these patients is, therefore, recommended. Further studies in the genetic etiology of isolated growth hormone deficiency will help to elucidate mechanisms implicated in the control of growth and may influence future treatment options. Advances in pharmacogenomics will also optimize the treatment of isolated growth hormone deficiency and other conditions associated with short stature, for which recombinant human growth hormone is a licensed therapy.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.