Evidence map›Paper›PMID 41394090›Full record

ArticleCase reports in endocrinology2025

Concomitant Mutations in the Thyroglobulin and SLC26A4 Genes Leading to Fetal Goiter and Congenital Hypothyroidism in a Patient With Pendred Syndrome.

Valeria Calcaterra, Mariano Lanna, Elisa Ligato, Alberto Dolci, Arianna Laoreti, Irene Daniele, Elisa Cattaneo, Gianluca Lista, Valeria Savasi, Gianvincenzo Zuccotti

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In one paragraph

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

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0citing papers in PubMed
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1 · What the graph read from it

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.

2 · The registry

The trial behind it

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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

10 authors.

Valeria CalcaterraDepartment of Internal Medicine, University of Pavia, Pavia, Italy.ORCID https://orcid.org/0000-0002-2137-5974
Mariano LannaDepartment of Women, Mother and Neonate, Fetal Therapy Unit "U. Nicolini", Buzzi Children's Hospital, Milano, Italy.ORCID https://orcid.org/0000-0003-0765-1298
Elisa LigatoDepartment of Women, Mother and Neonate, Fetal Therapy Unit "U. Nicolini", Buzzi Children's Hospital, Milano, Italy.ORCID https://orcid.org/0009-0001-5531-3990
Alberto DolciDepartment of Laboratory Medicine, Clinical Pathology Unit, 'Luigi Sacco' Hospital, Milano, Italy.ORCID https://orcid.org/0000-0002-9833-7538
Arianna LaoretiDepartment of Women, Mother and Neonate, Fetal Therapy Unit "U. Nicolini", Buzzi Children's Hospital, Milano, Italy.ORCID https://orcid.org/0000-0003-2648-195X
Irene DanieleDepartment of Women, Mother and Neonate, Neonatology Unit, Buzzi Children's Hospital, Milano, Italy.ORCID https://orcid.org/0009-0009-3079-4052
Elisa CattaneoDepartment of Pediatrics, Genetic Unit, Buzzi Children's Hospital, Milano, Italy.ORCID https://orcid.org/0009-0006-9984-7931
Gianluca ListaDepartment of Women, Mother and Neonate, Gynecological Unit, Buzzi Children's Hospital, Milano, Italy.ORCID https://orcid.org/0000-0002-6636-5673
Valeria SavasiDepartment of Women, Mother and Neonate, Gynecological Unit, Buzzi Children's Hospital, Milano, Italy.ORCID https://orcid.org/0000-0002-1476-7689
Gianvincenzo ZuccottiDepartment of Pediatrics, Pediatric Unit, Buzzi Children's Hospital, Milano, Italy.ORCID https://orcid.org/0000-0002-2795-9874

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We described new forms of thyroglobulin gene (TG) mutation resulting in fetal goiter and congenital hypothyroidism in a pendred syndrome (PS) patient. Fetal hypothyroidism was diagnosed, based on ultrasonographic evidence of goiter alongside with fetal blood measurement of TSH (>100 mIU/L); levothyroxine intrauterine treatment was performed. At birth, ultrasound thyroid enlargement and primary hypothyroidism were confirmed. On Day 11, hearing screening using a combination of otoacoustic emissions and auditory brainstem response revealed profound bilateral sensorineural deafness. Genetic analysis revealed TG variants [c.727C>T,p.(Àrg243Trp) and c.67l8G>T,p.(Glu2240Stop) in heterozygosis. Mutation c.164+1delG,p.(Ser55Ilefs

Indexed as

congenital hypothyroidismfetal goiterpendred syndromethyroglobulin gene

Identifiers

PMID41394090
PMCPMC12698259

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