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A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism

Autor: H. Bikker, T. Vulsma, M. H. Gons, J. J. M. De Vijlder, Frank Baas, M. T. Den Hartog

Publikováno v: Journal of clinical endocrinology and metabolism, 79(1), 248-252. The Endocrine Society

In this study we present the molecular basis of a total iodide organification defect causing severe congenital hypothyroidism. In the thyroid gland of the patient, thyroid peroxidase (TPO) activity and the iodination degree of thyroglobulin were belo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af1d11279ca75d8200c7c46134c4fa75
https://doi.org/10.1210/jc.79.1.248

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The role of serum thyroglobulin concentration and thyroid ultrasound imaging in the detection of iodide transport defects in infants

Autor: Thomas Vulsma, M. H. Gons, J. A. Rammeloo, J. J. M. De Vijlder

Publikováno v: Acta Endocrinologica. 124:405-410

When discovered by neonatal screening, a thyroid dyshormonogenesis is usually not recognized as a goitre. Especially a total iodide transport defect can easily be misclassified as thyroid agenesis, since radionuclide imaging cannot visualize the thyr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e3c957a9e6187a0dbc7912836b9e48b
https://doi.org/10.1530/acta.0.1240405

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Growth hormone treatment in Turner syndrome accelerates growth and skeletal maturation. Dutch Growth Hormone Working Group

Autor: C, Rongen-Westerlaken, J M, Wit, S M, De Muinck Keizer-Schrama, B J, Otten, W, Oostdijk, H A, Delemarre-van der Waal, M H, Gons, A, Bot, J L, Van den Brande

Publikováno v: European journal of pediatrics. 151(7)

Sixteen girls with Turner syndrome (TS) were treated for 4 years with biosynthetic growth hormone (GH). The dosage was 4 IU/m2 body surface s.c. per day over the first 3 years. In the 4th year the dosage was increased to 6 IU/m2 per day in the 6 girl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::800c25dbdd1883305c62543f06b65348
https://pubmed.ncbi.nlm.nih.gov/1396905

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Two-year results of treatment with methionyl human growth hormone in children with Turner syndrome. Dutch Growth Hormone Working Group

Autor: C, Rongen-Westerlaken, M H, Fokker, J M, Wit, S M, De Muinck Keizer-Schrama, B J, Otten, W, Oostdijk, H A, Delemarre van den waal, M H, Gons, A, Bot

Publikováno v: Acta paediatrica Scandinavica. 79(6-7)

Methionyl growth hormone (somatrem) in a daily dosage of 4 IU/m2 body surface area was administered to 16 girls with Turner syndrome. Low dose ethinyl estradiol (0.1 microgram/kg body weight) was added in girls aged 13 years or more. Mean (SD) height

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::816b89bb5102532372d46a7bdabb7fbc
https://pubmed.ncbi.nlm.nih.gov/2386058

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Maternal-fetal transfer of thyroxine in congenital hypothyroidism due to a total organification defect or thyroid agenesis

Autor: Thomas Vulsma, J. J. M. De Vijlder, M. H. Gons

Publikováno v: New England journal of medicine, 321(1), 13-16. Massachussetts Medical Society

The fact that neonates who subsequently have severe hypothyroidism have no evidence of the condition at birth suggests the possibility of the placental transfer of thyroid hormones. Recent studies have demonstrated the existence of such transfer in h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df25cd9f6da784829d41ca24b252ea81
https://doi.org/10.1056/nejm198907063210103

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Concentration of plasma thyroglobulin and urinary excretion of iodinated material in the diagnosis of thyroid disorders in congenital hypothyroidism

Autor: W. H. H. Tegelaers, J. H. Kok, J. J. M. De Vijlder, M. H. Gons

Publikováno v: Acta Endocrinologica. 104:27-34

In this paper we describe methods for the early aetiological diagnosis of congenital hypothyroidism, using beside the classical T4, T3 and TSH plasma concentrations, four additional parameters in plasma and urine. The first one is thyroglobulin (Tg).

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fbd99085e13785ba123863a879ed7c7
https://doi.org/10.1530/acta.0.1040027

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Serum thyroglobulin levels: the physiological decrease in infancy and the absence in athyroidism

Autor: J.L. Ket, J.J.M. Vijlder, M H Gons, Hennie Bikker, W. H. H. Tegelaers

Publikováno v: Journal of clinical endocrinology and metabolism, 53(6), 1301-1303. The Endocrine Society

The cord serum thyroglobulin levels of 218 neonates are much higher than the levels after the first year of life and show a wide range. A relation exists between a shorter gestational age and increased thyroglobulin levels. The serum thyroglobulin le

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef94e27f250198d61242fe35ef5c612a
https://doi.org/10.1210/jcem-53-6-1301

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[Screening for raised serum phenylalanine levels in women of reproductive age in Volendam]

Autor: J W, Oorthuys, M H, Gons, J V, Kwakman, R B, Schutgens, W H, Tegelaers

Publikováno v: Nederlands tijdschrift voor geneeskunde. 129(2)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0e84df8d0d0dfbd1f5a1e4fca3ea388d
https://pubmed.ncbi.nlm.nih.gov/3969173

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Prenatal diagnosis of a thyroglobulin synthesis defect in goats

Autor: K. Kok, J. E. Van Dijk, M. H. Gons, J. J. M. De Vijlder, R. H. Fokkens

Publikováno v: Acta endocrinologica. 110(1)

A strain of goats with congenital goitre due to a thyroglobulin (Tg) synthesis defect was studied. All goats excreted low molecular weight iodinated material (LOMWIOM) in their urine, but non-goitrous goats excreted in the LOMWIOM fraction less than

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01ef7ed2c8c10936f208cbec82682068
https://pubmed.ncbi.nlm.nih.gov/4036507

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[Congenital hypothyroidism. Current viewpoints and developments]

Autor: M H, Gons, T, Vulsma, J J, de Vijlder

Publikováno v: Tijdschrift voor kindergeneeskunde. 54(6)

Since 1978 neonatal screening on congenital hypothyroidism (CHT) is performed in The Netherlands. A combined T4 and TSH determination is used. This creates the possibility to detect secondary and tertiary hypothyroidism. The number of false-positive

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::06fdcb705a886e1bd3af7f30a64c70e2
https://pubmed.ncbi.nlm.nih.gov/3103255

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