ReviewReviews in endocrine & metabolic disorders2021
Disruption of the GHRH receptor and its impact on children and adults: The Itabaianinha syndrome.
Review in Reviews in endocrine & metabolic disorders, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
32 citing papers in PubMed, 39 citations in OpenAlex.
- Size in small-for-gestational-age neonates correlates with insulin-like growth factor-binding protein proteolysis and insulin-like growth factor-I bioavailability.Journal of the Endocrine Society · 2026Article
- Reproductive experience promotes permanent body growth independently of growth hormone.bioRxiv : the preprint server for biology · 2026Article
- Unraveling the Genetic Heterogeneity of Isolated Growth Hormone Deficiency: Insights from the GENHYPOPIT Cohort.Hormone research in paediatrics · 2026Article
- Growth Hormone, Not Simply Just a Hormone for Growth.Endocrinology and metabolism (Seoul, Korea) · 2026Review
- Growth hormone-releasing hormone in retinal disorders and uveitis: an updated review.International journal of ophthalmology · 2026Review
- Growth Hormone and IGF-1 Actions in the Brain and Neuropsychiatric Diseases.Physiology (Bethesda, Md.) · 2026Review
- Article
- Clinical dermatoendocrinology: saving lives by looking at the skin.Archives of endocrinology and metabolism · 2025Review
- The history of an effective, specific and sensitive diagnostic test: the GHRH test in clinical practice.Reviews in endocrine & metabolic disorders · 2025Review
- Growth hormone-releasing hormone and its analogues in health and disease.Nature reviews. Endocrinology · 2025Review
- Common and Uncommon Mouse Models of Growth Hormone Deficiency.Endocrine reviews · 2024Review
- Brain morphometry and estimation of aging brain in subjects with congenital untreated isolated GH deficiency.Journal of endocrinological investigation · 2024Article
- Skin assessment in congenital untreated isolated GH deficiency.Endocrine · 2024Article
- The Hormonal Background of Hair Loss in Non-Scarring Alopecias.Biomedicines · 2024Review
- Portuguese version of the Literacy Independent Cognitive Assessment (LICA) instrument in the evaluation of individuals aged 50 years or older with Itabaianinha syndrome.Archives of endocrinology and metabolism · 2024Article
- Cognitive performance during senescence in untreated congenital isolated GH deficiency.Endocrine connections · 2024Article
- Function and form of the shoulder in congenital and untreated growth hormone deficiency.Endocrine · 2023Article
- Treating Hypopituitarism in the Over 65s: Review of Clinical Studies.Clinical interventions in aging · 2023Review
- Intrathymic somatotropic circuitry: consequences upon thymus involution.Frontiers in immunology · 2023Review
- The state of Sergipe contribution to GH research: from Souza Leite to Itabaianinha syndrome.Archives of endocrinology and metabolism · 2022Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Since 1994, we have been studying an extended kindred with 105 subjects (over 8 generations) residing in Itabaianinha County, in the Brazilian state of Sergipe, who have severe isolated GH deficiency (IGHD) due to a homozygous inactivating mutation (c.57 + 1G > A) in the GH releasing hormone (GHRH) receptor (GHRHR) gene. Most of these individuals have never received GH replacement therapy. They have low GH, and very low and often undetectable levels of serum IGF-I. Their principal physical findings are proportionate short stature, doll facies, high-pitched-voice, central obesity, wrinkled skin, and youthful hair with delayed pigmentation, and virtual absence of graying. The newborns from this cohort are of normal size, indicating that GH is not needed for intra-uterine growth. However, these IGHD individuals exhibit a myriad of phenotypic changes throughout the body, with a greater number of beneficial than harmful consequences. This GHRH signal disruption syndrome has been a valuable model to study the GH roles in body size and function. This reviews summarized the findings we have reported on this cohort.
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Registered trials
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.