Evidence map›Paper›PMID 42170892›Full record

ArticleThe Journal of clinical endocrinology and metabolism2026

Approach to the patient: genetics and management of congenital hypothyroidism.

Adrien Nguyen Quoc, Dulanjalee Kariyawasam, Michel Polak, Aurore Carré, Athanasia Stoupa

Abstract readCase Reports
In one paragraph

Article in The Journal of clinical endocrinology and metabolism, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

5 authors.

Adrien Nguyen QuocUniversité Paris Cité, CNRS, Inserm, UMR-S 1016, Institut Cochin, F-75014 Paris, France.
Dulanjalee KariyawasamUniversité Paris Cité, CNRS, Inserm, UMR-S 1016, Institut Cochin, F-75014 Paris, France.ORCID 0000-0002-3870-202X
Michel PolakUniversité Paris Cité, CNRS, Inserm, UMR-S 1016, Institut Cochin, F-75014 Paris, France.ORCID 0000-0003-2639-352X
Aurore CarréUniversité Paris Cité, CNRS, Inserm, UMR-S 1016, Institut Cochin, F-75014 Paris, France.ORCID 0000-0002-6795-3629
Athanasia StoupaUniversité Paris Cité, CNRS, Inserm, UMR-S 1016, Institut Cochin, F-75014 Paris, France.ORCID 0000-0002-1164-5862

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital hypothyroidism (CH) encompasses a diverse spectrum of disorders with diverse genetic etiologies and variable clinical courses, ranging from transient neonatal hyperthyrotropinemia to permanent thyroid hormone or thyrotropin deficiency. Advances in molecular genetics have substantially expanded the catalog of genes implicated in CH; however, the translation of this knowledge into everyday clinical practice remains challenging. In this Approach to the Patient, we use selected clinical vignettes to illustrate how genetic information can substantiate the diagnosis, management, and counseling of patients with CH. Rather than providing an exhaustive genetic review, this paper focuses on clinically relevant scenarios and pragmatic decision points-when to perform genetic testing, how results influence treatment duration and intensity, and how they guide prognostication and family counseling. This case-based framework emphasizes a pragmatic, patient-centered approach to the use of genetics in the management of CH.

Indexed as

Congenital HypothyroidismFemaleGenetic CounselingGenetic TestingHumansInfant, NewbornMaleNeonatal Screeningcentral hypothyroidismcongenital hypothyroidismdyshormonogenesisgeneticsnewborn screeningthyroid dysgenesis

Identifiers

PMID42170892
PMCPMC13466945

What OpenQuestion holds

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Registered trials

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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.