Science Links Japan | A case of hypothalamic hypothyroidism in which SNP (single nucleotide polymorphism) in the TRH (thyrotropin releasing hormone) gene signal peptide region was observed.

A case of hypothalamic hypothyroidism in which SNP (single nucleotide polymorphism) in the TRH (thyrotropin releasing hormone) gene signal peptide region was observed.

Accession number;02A0747057

Title;A case of hypothalamic hypothyroidism in which SNP (single nucleotide polymorphism) in the TRH (thyrotropin releasing hormone) gene signal peptide region was observed.

Author; KOBAYASHI HIROMASA (Kobe Cent. Munic. Hosp.) IWAKURA TOSHIO (Kobe Cent. Munic. Hosp.) SHIMOTABIRA MAKIKO (Kobe Cent. Munic. Hosp.) HINO MEGUMI (Kobe Cent. Munic. Hosp.) ISHIHARA TAKASHI (Kobe Cent. Munic. Hosp.) IKEKUBO KATSUJI (Kobe Cent. Munic. Hosp.) KURAHACHI HIROYUKI (Kobe Cent. Munic. Hosp.)

Journal Title;Clinical Endocrinology

Journal Code:Z0648A

ISSN:0045-7167

VOL.50;NO.;PAGE.12-16(2002)

Figure&Table&Reference;FIG.5, TBL.2, REF.5

Pub. Country;Japan

Language;Japanese

Abstract;A case (40-year-old woman) of idiopathic hypothalamic hypothyroidism is reported. As the result of the medical record, diagnostic imaging and endocrine examination, idiopathic hypothalamic hypothyroidism was diagnosed. As the result of oral administration of sodium levothyroxine as the treatment, the thyroid hormone value normalized, and TSH was under measurement sensitivity. As the result of the TRH gene retrieval for clarifying the cause, the single nucleotide polymorphism was noted at a high rate in the signal peptide region.

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