Thyroid function in PMM2-CDG: Diagnostic approach and proposed management

Miski Mohamed; Miranda Theodore; Hedi Claahsen van Der Grinten; Antonius E. Van Herwaarden; Karin Huijben; Lotte Van Dongen; Dorus Kouwenberg; Dirk J. Lefeber; Ron A. Wevers; Eva Morava

doi:10.1016/j.ymgme.2012.02.001

Thyroid function in PMM2-CDG: Diagnostic approach and proposed management

Miski Mohamed, Miranda Theodore, Hedi Claahsen van Der Grinten, Antonius E. Van Herwaarden, Karin Huijben, Lotte Van Dongen, Dorus Kouwenberg, Dirk J. Lefeber, Ron A. Wevers, Eva Morava

Medical Genetics

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

Abstract

Glycoproteins are essential in the production, transport, storage and regulation of thyroid hormones. Altered glycosylation has a potential impact on thyroid function. Abnormal thyroid function tests have been described in patients with congenital disorders of glycosylation. We evaluated the reliability of biochemical markers and investigated thyroid function in 18 PMM2-CDG patients. We propose an expectative therapeutic approach for neonates with thyroid abnormalities in CDG.

Original language	English (US)
Pages (from-to)	681-683
Number of pages	3
Journal	Molecular genetics and metabolism
Volume	105
Issue number	4
DOIs	https://doi.org/10.1016/j.ymgme.2012.02.001
State	Published - Apr 2012

Keywords

Free T4
Glycosylation
Hypothyroidism
Levothyroxine treatment
PMM2-CDG
TSH

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Biochemistry
Molecular Biology
Genetics
Endocrinology

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10.1016/j.ymgme.2012.02.001

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title = "Thyroid function in PMM2-CDG: Diagnostic approach and proposed management",

abstract = "Glycoproteins are essential in the production, transport, storage and regulation of thyroid hormones. Altered glycosylation has a potential impact on thyroid function. Abnormal thyroid function tests have been described in patients with congenital disorders of glycosylation. We evaluated the reliability of biochemical markers and investigated thyroid function in 18 PMM2-CDG patients. We propose an expectative therapeutic approach for neonates with thyroid abnormalities in CDG.",

keywords = "Free T4, Glycosylation, Hypothyroidism, Levothyroxine treatment, PMM2-CDG, TSH",

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T2 - Diagnostic approach and proposed management

AU - Mohamed, Miski

AU - Theodore, Miranda

AU - Der Grinten, Hedi Claahsen van

AU - Van Herwaarden, Antonius E.

AU - Huijben, Karin

AU - Van Dongen, Lotte

AU - Kouwenberg, Dorus

AU - Lefeber, Dirk J.

AU - Wevers, Ron A.

AU - Morava, Eva

PY - 2012/4

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AB - Glycoproteins are essential in the production, transport, storage and regulation of thyroid hormones. Altered glycosylation has a potential impact on thyroid function. Abnormal thyroid function tests have been described in patients with congenital disorders of glycosylation. We evaluated the reliability of biochemical markers and investigated thyroid function in 18 PMM2-CDG patients. We propose an expectative therapeutic approach for neonates with thyroid abnormalities in CDG.

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KW - Glycosylation

KW - Hypothyroidism

KW - Levothyroxine treatment

KW - PMM2-CDG

KW - TSH

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Thyroid function in PMM2-CDG: Diagnostic approach and proposed management

Abstract

Keywords

ASJC Scopus subject areas

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