ArticleAACE clinical case reports
Facial Dysmorphic Features in a Patient With Nonketotic Hypoglycemia and a Pathogenic Variant in the
Article in AACE clinical case reports. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
4 citing papers in PubMed, 5 citations in OpenAlex.
- Hypoinsulinemic hypoglycemia with hemihypertrophy in a Filipino infant: management in a resource-limited setting.JCEM case reports · 2026Article
- Treatment of hypoglycemia due to a rare pathogenic variant inClinical case reports · 2024Article
- Syndromic forms of congenital hyperinsulinism.Frontiers in endocrinology · 2023Review
- Editorial for May/June Issue of AACE Clinical Case Reports.AACE clinical case reportsArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background/Objective: AKT2 is a serine/threonine kinase that plays a key role in regulating insulin signaling. The phenotype related to the gain-of-function alteration in the Case Report: A previously healthy child was evaluated at 6 months of age for episodes of hypoglycemia. The laboratory test results for the critical samples showed hypoketotic hypoglycemia (glucose level, 2.16 mmol/L [38 mg/dL]) with undetectable levels of insulin (<0.2 mU/L) and C-peptide (<0.033 nmol/L [reference range, 0.37-1.47 nmol/L]). Physical examination revealed hypertelorism, prominent proptosis of the eyes, a flat nasal bridge, delayed psychomotor development, and postnatal symmetrical overgrowth. The genetic study of Discussion: The range of phenotypes of this gain-of-function alteration in Conclusion: Regarding the treatment, we observed a similar response with WMHMS compared with UCCS, with no adverse effects.
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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.