Evidence map›Paper›PMID 42611393›Full record

ArticleEndocrine2026

Congenital goitrous hypothyroidism due to thyroglobulin deficiency associated with angioinvasive follicular thyroid carcinoma: comprehensive and integral analysis of the p.Cys1897_Glu1900 deletion.

Valeria F Garzón, Jéssica López Marti, Mauricio Gomes Pio, Juan M Lazzati, Jorge Zappa, Wanderson Marques da Silva, Noelia Dujovne, Carina M Rivolta, Héctor M Targovnik

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In one paragraph

Article in Endocrine, 2026. 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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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Valeria F GarzónUniversidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Departamento de Microbiología, Inmunología, Biotecnología y Genética/Cátedra de Genética, Buenos Aires, Argentina.
Jéssica López MartiDepartamento de Patología, Hospital de Pediatría S.A.M.I.C Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
Mauricio Gomes PioUniversidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Departamento de Microbiología, Inmunología, Biotecnología y Genética/Cátedra de Genética, Buenos Aires, Argentina.
Juan M LazzatiLaboratorio de Endocrinología, Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
Jorge ZappaServicio de Endocrinología, Hospital Pediátrico Avelino Castelan, Resistencia, Chaco, Argentina.
Wanderson Marques da SilvaUniversidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Departamento de Microbiología, Inmunología, Biotecnología y Genética/Cátedra de Genética, Buenos Aires, Argentina.
Noelia DujovneDepartamento de Endocrinología, Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
Carina M RivoltaUniversidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Departamento de Microbiología, Inmunología, Biotecnología y Genética/Cátedra de Genética, Buenos Aires, Argentina.
Héctor M TargovnikUniversidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Departamento de Microbiología, Inmunología, Biotecnología y Genética/Cátedra de Genética, Buenos Aires, Argentina. htargovn@ffyb.uba.ar.

Funding

Consejo Nacional de Investigaciones Científicas y Técnicas PIP 2021-11220200102976COFONCyT-ANPCyT-MINCyT PICT-2018-02146Universidad de Buenos Aires UBACyT 2020-20020190100050BA
6 · The paper itself

Abstract

purposeThis study focused on elucidating the molecular basis underlying the clinical phenotype of a patient presenting with congenital hypothyroidism (CH), goiter, and angioinvasive follicular thyroid carcinoma.

methodsThe index patient underwent comprehensive clinical, biochemical, and imaging assessments. DNA sequencing, genotyping, and bioinformatics analyses were subsequently performed.

resultsWhole exome sequencing (WES) of peripheral blood leukocyte and tumor tissue DNA, together with confirmatory Sanger sequencing, revealed a previously undescribed homozygous inactivating thyroglobulin (TG) variant, NM_003235.5:c.5688_5699delTTGTGTGCAGGA [NP_003226.4:p.Cys1897_Glu1900del]. Family segregation analysis demonstrated that the healthy mother and half-sister were heterozygous carriers of the NM_003235.5:c.5688_5699del variant, while paternal DNA was not available for sequence analysis. The deletion occurs immediately after the first nucleotide of exon 31, within the TG type 3a-2 domain of region III, removing 12 nucleotides that encode the amino acids cysteine

conclusionWe report a novel deletion that broadens the spectrum of TG variants. This defect impairs T

Indexed as

Adenocarcinoma, FollicularCongenital HypothyroidismGoiterThyroglobulinThyroid NeoplasmsFemaleHumansPedigreeSequence DeletionTG protein, humanThyroglobulinCongenital hypothyroidismDeletionGoiterThyroglobulinThyroid cancer

Identifiers

PMID42611393

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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.