ArticleFrontiers in genetics2021
Evidence That the Etiology of Congenital Hypopituitarism Has a Major Genetic Component but Is Infrequently Monogenic.
Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02311322 (Genetic Causes of Growth Disorders), which is not on this map. Cited by 11 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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Genetic Causes of Growth Disorders
Who cites it
11 citing papers in PubMed, 14 citations in OpenAlex.
- Unraveling the Genetic Heterogeneity of Isolated Growth Hormone Deficiency: Insights from the GENHYPOPIT Cohort.Hormone research in paediatrics · 2026Article
- Exploring the mediating role of potential therapeutic genes in the pathogenesis of hypopituitarism through the metabolites from a genomic perspective.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Progression from isolated growth hormone deficiency to a combined pituitary hormone deficiency in a cohort of paediatrics patients with pituitary morphology abnormalities on MRI.BMC endocrine disorders · 2025Observational
- A Novel Missense Variant inChildren (Basel, Switzerland) · 2025Article
- Newborn screening for central congenital hypothyroidism: past, present and future.European thyroid journal · 2025Review
- Gene Misexpression in aJournal of the Endocrine Society · 2024Article
- Trio-based whole exome sequencing in patients with ectopic posterior pituitary.Frontiers in pediatrics · 2024Article
- Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man.Human molecular genetics · 2023Article
- POU1F1/Pou1f1 c.143-83A > G Variant Disrupts the Branch Site in Pre-mRNA and Leads to Dwarfism.Endocrinology · 2022Article
- Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years.EClinicalMedicine · 2022Article
- Article
Corrections and comments
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Authors and funding
15 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeCongenital hypopituitarism usually occurs sporadically. In most patients, the etiology remains unknown.
methodsWe studied 13 children with sporadic congenital hypopituitarism. Children with non-endocrine, non-familial idiopathic short stature (NFSS) (
resultsFirst, we assessed the frequency of rare, predicted-pathogenic variants in 42 genes previously reported to be associated with pituitary gland development. The average number of variants per individual was greater in probands with congenital hypopituitarism than those with NFSS (1.1 vs. 0.21, mean variants/proband,
conclusionOur findings provide evidence that the etiology of sporadic congenital hypopituitarism has a major genetic component but may be infrequently monogenic with full penetrance, suggesting a more complex etiology.
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Registered trials
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