Evidence map›Paper›PMID 40734302›Full record

ArticleProblemy endokrinologii2025

[A case of thyroid hormone resistance syndrome due to previously undescribed mutation in the

Y L Skorodok, T S Grabchak, E V Plotnikova, E N Suspitsin, I Y Ioffe, A V Kozhevnikova, V D Zabinsky, D O Ivanov

Abstract readCase ReportsEnglish Abstract
PubMed Full text at PMC Publisher
In one paragraph

Article in Problemy endokrinologii, 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

8 authors.

Y L SkorodokSaint-Petersburg State Pediatric Medical University.
T S GrabchakSaint-Petersburg State Pediatric Medical University.
E V PlotnikovaSaint-Petersburg State Pediatric Medical University.
E N SuspitsinSaint-Petersburg State Pediatric Medical University.
I Y IoffeSaint-Petersburg State Pediatric Medical University.
A V KozhevnikovaSaint-Petersburg State Pediatric Medical University.
V D ZabinskySaint-Petersburg State Pediatric Medical University.
D O IvanovSaint-Petersburg State Pediatric Medical University.

Funding

Non-US Government Research Support type
6 · The paper itself

Abstract

Thyroid hormone resistance (THR) syndrome is characterized by decreased sensitivity of peripheral tissues to active forms of thyroid hormones. We present a clinical case of a patient, demonstrating symptoms of hypothyroidism while having subnormal FT4 and normal TSH and total T3 levels. Massive parallel sequencing allowed us to identify a previously undescribed heterozygous THRA c.1198C>G (p.Leu400Val) variant that arose de novo. The results of genetic testing corresponded well with the patient's phenotype that made it possible to verify the diagnosis of THR. Levothyroxine replacement therapy did not resulted in a significant clinical improvement; the use of supraphysiological doses led to refinement of the lipid profile but was accompanied by the appearance of some symptoms of thyrotoxicosis.

Indexed as

MutationThyroid Hormone Receptors alphaThyroid Hormone Resistance SyndromeAdultFemaleHumansMaleThyroxineThyroid Hormone Receptors alphaThyroxine

Identifiers

PMID40734302
PMCPMC12319631

What OpenQuestion holds

Textmetadata
LicenceCC BY
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 OpenQuestion graph.