Thyroid Dyshormonogenesis | List of Frontiers open access articles

Case Report

Published on 27 Nov 2025

A new case of Rafiq syndrome with coexisting thyroid dyshormonogenesis type 6 in a Chinese patient: case report and literature review

in Pediatric Endocrinology

Ruifang Qi
Hanfei Guo
Rongmin Li
Jie Chang
Di Wu
Yanmei Sang

Frontiers in Endocrinology

doi 10.3389/fendo.2025.1583011

1,286 views

Original Research

Published on 04 Nov 2025

Variation spectra in mild isolated hyperthyrotropinemia: pilot cohort and systematic review

in Thyroid Endocrinology

Valentina Ricci
María E. Masnata
María D. Villanueva Gonzalez
Rosa E. Enacán
Agustín Izquierdo
Ezequiela Adrover
María Esnaola Azcoiti
Gabriela Sansó
Paula A. Scaglia
Carina M. Rivolta

Frontiers in Endocrinology

doi 10.3389/fendo.2025.1612450

1,608 views

Original Research

Published on 08 Jul 2024

Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene

in Pediatric Endocrinology

Mónica Fernández-Cancio
María Antolín
María Clemente
Ariadna Campos-Martorell
Eduard Mogas
Noelia Baz-Redón
Jordi Leno-Colorado
Gemma Comas-Armangué
Elena García-Arumí
Laura Soler-Colomer

Frontiers in Endocrinology

doi 10.3389/fendo.2024.1367808

3,755 views
2 citations

Original Research

Published on 24 Jun 2021

Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis

in Thyroid Endocrinology

Isabelle Oliver-Petit
Thomas Edouard
Virginie Jacques
Marie Bournez
Audrey Cartault
Solange Grunenwald
Frédérique Savagner

Frontiers in Endocrinology

doi 10.3389/fendo.2021.657913

6,745 views
22 citations

Case Report

Published on 18 Jun 2021

Case Report: Functional Analysis and Neuropsychological Evaluation of Dyshormonogenetic Fetal Goiter in Siblings Caused by Novel Compound Hyterozygous TPO Gene Mutations

in Pediatric Endocrinology

Tania Maria Barreto Rodrigues
Marlon Messias da Conceição Silva
Magali Maciel Freitas
Zélia Maria Costa Duarte
Vitória Sousa Frutuoso
Mariana Teixeira Rodrigues
Ileana Gabriela Sanchez Rubio

Frontiers in Endocrinology

doi 10.3389/fendo.2021.671659

5,180 views
4 citations

Original Research

Published on 12 Sep 2024

A new perspective on selenium’s impact on renal function: European population-based analysis of plasma proteome-mediated Mendelian randomization study

in Renal Endocrinology

Shaojie Fu
Man Qian
Zishu Yuan
Sensen Su
Fuzhe Ma
Fan Li
Zhonggao Xu

Frontiers in Endocrinology

doi 10.3389/fendo.2024.1410463

4,350 views
1 citation

Articles

A new case of Rafiq syndrome with coexisting thyroid dyshormonogenesis type 6 in a Chinese patient: case report and literature review

Variation spectra in mild isolated hyperthyrotropinemia: pilot cohort and systematic review

Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene

Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis

Case Report: Functional Analysis and Neuropsychological Evaluation of Dyshormonogenetic Fetal Goiter in Siblings Caused by Novel Compound Hyterozygous TPO Gene Mutations

A new perspective on selenium’s impact on renal function: European population-based analysis of plasma proteome-mediated Mendelian randomization study