Evidence map›Paper›PMID 39956565›Full record

ArticleBMJ case reports2025

Familial glucocorticoid deficiency: genetic insights and treatment strategies in resource-limited settings.

Anu Tresa, Rahul Jahagirdar, Ruma Deshpande, Chaitanya Datar

Abstract read
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In one paragraph

Article in BMJ case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Anu TresaDepartment of Pediatrics, Bharati Vidyapeeth Deemed University Medical College, Pune, Maharashtra, India.ORCID http://orcid.org/0000-0001-6597-0620
Rahul JahagirdarDepartment of Pediatrics, Bharati Vidyapeeth Deemed University Medical College, Pune, Maharashtra, India rjahagirdar@gmail.com.
Ruma DeshpandeDepartment of Pediatrics, Bharati Vidyapeeth Deemed University Medical College, Pune, Maharashtra, India.
Chaitanya DatarDepartment of Pediatrics, Bharati Vidyapeeth Deemed University Medical College, Pune, Maharashtra, India.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Familial glucocorticoid deficiency disorders are a group of autosomal recessive disorders with variable phenotypes. Early diagnosis aids with effective treatment. This case discusses a couple who had come with a history of neonatal deaths and a spontaneous abortion for genetic counselling regarding the current pregnancy. On obtaining relevant family and antenatal history, a targeted genetic testing showed that the fetus had a homozygous melanocortin-2 receptor (

Indexed as

Adrenal InsufficiencyGlucocorticoidsHydrocortisoneReceptor, Melanocortin, Type 2Steroid Metabolism, Inborn ErrorsFemaleGenetic CounselingGenetic TestingHumansInfant, NewbornMutationPregnancyResource-Limited SettingsGlucocorticoidsHydrocortisoneReceptor, Melanocortin, Type 2Adrenal disordersGenetic screening / counsellingNeonatal and paediatric intensive care

Identifiers

PMID39956565
PMCPMC11831053

What Socratic holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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 Socratic graph.