ReviewIndian journal of pediatrics2012
Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD).
Review in Indian journal of pediatrics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 33 citations in OpenAlex.
- Article
- Diagnostic Challenges of Short Stature and Growth Hormone Insufficiency Across Different Genetic Etiologies.Biomedicines · 2025Review
- Review
- 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
- Cushing disease due to a somaticArchives of endocrinology and metabolism · 2022Article
- Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing.Frontiers in endocrinology · 2022Review
- Isolated growth hormone deficiency type IA due to a novel GH1 variant: a case report.BMC medical genomics · 2021Article
- High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.American journal of human genetics · 2021Article
- The phenotypic spectrum associated with OTX2 mutations in humans.European journal of endocrinology · 2021Article
- Polymorphism of the growth hormone gene GH1 in Polish children and adolescents with short stature.Endocrine · 2020Article
- Same Phenotype in Children with Growth Hormone Deficiency and Resistance.Case reports in pediatrics · 2018Article
- Article
- RNAe: an effective method for targeted protein translation enhancement by artificial non-coding RNA with SINEB2 repeat.Nucleic acids research · 2015Article
- Deletion of OTX2 in neural ectoderm delays anterior pituitary development.Human molecular genetics · 2015Article
- Molecular genetic studies in isolated growth hormone deficiency (IGHD).Indian journal of pediatrics · 2013Article
- Isolated central hypothyroidism in young siblings as a manifestation of PROP1 deficiency: clinical impact of whole exome sequencing.Hormone research in paediatrics · 2013Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 3 countries.
Funding
Abstract
Isolated growth hormone deficiency (IGHD) may be congenital, often due to genetic mutations, or acquired as a result of other factors such as cranial irradiation. The commonest genes implicated in its genetic etiology are those encoding growth hormone (GH1) and the receptor for GH-releasing hormone (GHRHR). Rarely, IGHD may be caused by mutations in transcription factors (HESX1, SOX3, OTX2) or be the first presentation before the development of other pituitary hormone deficiencies. IGHD has been classified in four genetic forms (type IA, IB, II and III). Despite the increasing number of genes implicated in the etiology of IGHD, mutations in known genes account only for a small percentage of cases; therefore, other as yet unidentified factors may be implicated in its etiology. Although there is no strict genotype/phenotype correlation in patients with IGHD, there are some emerging patterns that may guide us towards a genetic diagnosis of the condition. There is increasing understanding that the phenotype of patients with IGHD is highly variable and sometimes even evolving, dictating the need for long term follow-up in these cases.
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Registered trials
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