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Related Experiment Video

Updated: May 24, 2026

Spontaneous Murine Model of Anaplastic Thyroid Cancer

Spontaneous Murine Model of Anaplastic Thyroid Cancer

Published on: February 3, 2023

Thyroid function in PMM2-CDG: diagnostic approach and proposed management.

Miski Mohamed¹, Miranda Theodore, Hedi Claahsen-van der Grinten

¹Department of Pediatrics, Radboud University Nijmegen Medical Center, The Netherlands. m.mohamed@cukz.umcn.nl

Molecular Genetics and Metabolism

|March 6, 2012

Summary

Altered glycosylation impacts thyroid function. This study evaluated thyroid function and biochemical markers in PMM2-congenital disorders of glycosylation (PMM2-CDG) patients, proposing a therapeutic approach for affected neonates.

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Last Updated: May 24, 2026

Spontaneous Murine Model of Anaplastic Thyroid Cancer

Spontaneous Murine Model of Anaplastic Thyroid Cancer

Published on: February 3, 2023

Area of Science:

Biochemistry
Endocrinology
Genetics

Background:

Glycoproteins play crucial roles in thyroid hormone regulation.
Abnormal glycosylation is linked to impaired thyroid function.
Congenital disorders of glycosylation (CDG) can manifest with abnormal thyroid tests.

Purpose of the Study:

To assess the reliability of biochemical markers for thyroid function.
To investigate thyroid function in patients with PMM2-congenital disorders of glycosylation (PMM2-CDG).
To propose a therapeutic strategy for neonatal thyroid abnormalities in CDG.

Main Methods:

Biochemical marker analysis
Thyroid function testing
Clinical evaluation of 18 PMM2-CDG patients

Main Results:

Established reliability of specific biochemical markers.
Detailed thyroid function profiles in PMM2-CDG patients.
Identified key thyroid abnormalities associated with PMM2-CDG.

Conclusions:

Thyroid function is significantly affected in PMM2-CDG.
Biochemical markers are reliable indicators of thyroid status in CDG.
An expectative therapeutic approach is recommended for neonates with thyroid issues in CDG.