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

1,273 views

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

6,722 views
22 citations

Case Report

Published on 23 Dec 2024

Transient hypothyroidism in a neonate following maternal exposure to vinblastine during pregnancy: a case report and review

in Neonatology

Zubair Amin
Win Thu Aung
Yvonne Peng Mei Ng

Frontiers in Pediatrics

doi 10.3389/fped.2024.1464520

1,810 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

1,563 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

3,731 views
1 citation

Original Research

Published on 22 Feb 2021

High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis

in Thyroid Endocrinology

Athanasia Stoupa
Ghada Al Hage Chehade
Rim Chaabane
Dulanjalee Kariyawasam
Gabor Szinnai
Sylvain Hanein
Christine Bole-Feysot
Cécile Fourrage
Patrick Nitschke
Caroline Thalassinos

Frontiers in Endocrinology

doi 10.3389/fendo.2020.545339

5,814 views
23 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

5,158 views
4 citations

Original Research

Published on 14 Jul 2020

Genetics of Gland-in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia

in Pediatric Endocrinology

Nikolina Zdraveska
Mirjana Kocova
Adeline K. Nicholas
Violeta Anastasovska
Nadia Schoenmakers

Frontiers in Endocrinology

doi 10.3389/fendo.2020.00413

5,587 views
21 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

4,327 views
1 citation

Original Research

Published on 03 Sep 2021

Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort

in Thyroid Endocrinology

Wei Long
Fang Guo
Ruen Yao
Ying Wang
Huaiyan Wang
Bin Yu
Peng Xue

Frontiers in Endocrinology

doi 10.3389/fendo.2021.705773

8,326 views
12 citations

Original Research

Published on 31 Mar 2022

Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome

in Pediatric Endocrinology

Han-Yi Lin
Wen-Yu Tsai
Yi-Ching Tung
Shih-Yao Liu
Ni-Chung Lee
Yin-Hsiu Chien
Wuh-Liang Hwu
Cheng-Ting Lee

Frontiers in Endocrinology

doi 10.3389/fendo.2022.771100

3,993 views
9 citations

Articles

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

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

Transient hypothyroidism in a neonate following maternal exposure to vinblastine during pregnancy: a case report and 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

High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis

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

Genetics of Gland-in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia

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

Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort

Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome