Initially elevated TSH and congenital central hypothyroidism due to a homozygous mutation of the TSH beta subunit gene: case report and review of the literature

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Initially elevated TSH and congenital central hypothyroidism due to a homozygous mutation of the TSH beta subunit gene : case report and review of the literature. / Partsch, C-J; Riepe, F G; Krone, N; Sippell, W G; Pohlenz, J.

In: Experimental and Clinical Endocrinology and Diabetes, Vol. 114, No. 5, 2006, p. 227-34.

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@article{f7f21465641a494dafb6851df8a8856d,
title = "Initially elevated TSH and congenital central hypothyroidism due to a homozygous mutation of the TSH beta subunit gene: case report and review of the literature",
abstract = "Congenital central hypothyroidism (CCH) is a rare disease which can be caused by mutations in the gene for the thyrotropin (TSH) beta subunit ( TSHB). The diagnosis is usually delayed because the TSH serum levels in these patients are not elevated leading to a negative result in the neonatal TSH screening. Herein, we report a 2-year-old girl with CCH due to a mutation in the TSHB gene, in whom the unusual finding of an initially elevated TSH level complicated the diagnostic workup. The proposita, who had a supposedly normal TSH screening result, is a German girl of non-consanguineous parents. At 5 weeks of age, her thyroid function tests showed peripheral hypothyroidism with a moderately increased TSH (23.8 microIU/ml) so that thyroid hormone substitution was initiated. At the age of 2 years, the administration of TRH failed to increase the TSH serum concentrations, which prompted TSH measurements with two different assay systems. Variable TSH levels ranging from not detectable low to elevated were found so that central hypothyroidism due to a mutation in the TSHB gene was suspected. This was confirmed by molecular analysis of the TSHB gene, which identified a homozygous deletion (delta 313 T) in the coding sequence. This mutation has been found in the German population before and may be a founder mutation. We conclude that depending on the assay system variable TSH serum levels in individuals with mutations in the TSHB gene may complicate the diagnostic workup.",
author = "C-J Partsch and Riepe, {F G} and N Krone and Sippell, {W G} and J Pohlenz",
year = "2006",
doi = "10.1055/s-2006-924232",
language = "English",
volume = "114",
pages = "227--34",
journal = "Experimental and Clinical Endocrinology and Diabetes",
issn = "0947-7349",
publisher = "Thieme Publishing",
number = "5",

}

RIS

TY - JOUR

T1 - Initially elevated TSH and congenital central hypothyroidism due to a homozygous mutation of the TSH beta subunit gene

T2 - case report and review of the literature

AU - Partsch, C-J

AU - Riepe, F G

AU - Krone, N

AU - Sippell, W G

AU - Pohlenz, J

PY - 2006

Y1 - 2006

N2 - Congenital central hypothyroidism (CCH) is a rare disease which can be caused by mutations in the gene for the thyrotropin (TSH) beta subunit ( TSHB). The diagnosis is usually delayed because the TSH serum levels in these patients are not elevated leading to a negative result in the neonatal TSH screening. Herein, we report a 2-year-old girl with CCH due to a mutation in the TSHB gene, in whom the unusual finding of an initially elevated TSH level complicated the diagnostic workup. The proposita, who had a supposedly normal TSH screening result, is a German girl of non-consanguineous parents. At 5 weeks of age, her thyroid function tests showed peripheral hypothyroidism with a moderately increased TSH (23.8 microIU/ml) so that thyroid hormone substitution was initiated. At the age of 2 years, the administration of TRH failed to increase the TSH serum concentrations, which prompted TSH measurements with two different assay systems. Variable TSH levels ranging from not detectable low to elevated were found so that central hypothyroidism due to a mutation in the TSHB gene was suspected. This was confirmed by molecular analysis of the TSHB gene, which identified a homozygous deletion (delta 313 T) in the coding sequence. This mutation has been found in the German population before and may be a founder mutation. We conclude that depending on the assay system variable TSH serum levels in individuals with mutations in the TSHB gene may complicate the diagnostic workup.

AB - Congenital central hypothyroidism (CCH) is a rare disease which can be caused by mutations in the gene for the thyrotropin (TSH) beta subunit ( TSHB). The diagnosis is usually delayed because the TSH serum levels in these patients are not elevated leading to a negative result in the neonatal TSH screening. Herein, we report a 2-year-old girl with CCH due to a mutation in the TSHB gene, in whom the unusual finding of an initially elevated TSH level complicated the diagnostic workup. The proposita, who had a supposedly normal TSH screening result, is a German girl of non-consanguineous parents. At 5 weeks of age, her thyroid function tests showed peripheral hypothyroidism with a moderately increased TSH (23.8 microIU/ml) so that thyroid hormone substitution was initiated. At the age of 2 years, the administration of TRH failed to increase the TSH serum concentrations, which prompted TSH measurements with two different assay systems. Variable TSH levels ranging from not detectable low to elevated were found so that central hypothyroidism due to a mutation in the TSHB gene was suspected. This was confirmed by molecular analysis of the TSHB gene, which identified a homozygous deletion (delta 313 T) in the coding sequence. This mutation has been found in the German population before and may be a founder mutation. We conclude that depending on the assay system variable TSH serum levels in individuals with mutations in the TSHB gene may complicate the diagnostic workup.

U2 - 10.1055/s-2006-924232

DO - 10.1055/s-2006-924232

M3 - Article

C2 - 16804796

VL - 114

SP - 227

EP - 234

JO - Experimental and Clinical Endocrinology and Diabetes

JF - Experimental and Clinical Endocrinology and Diabetes

SN - 0947-7349

IS - 5

ER -