Hypothyroidism in siblings due to a homozygous mutation of the TSH-β subunit gene

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

We report two American sisters of Scottish-Irish ancestry with isolated thyrotropin (TSH) deficiency. The diagnosis of central congenital hypothyroidism was based on low levels of TSH and free thyroxine. Sequencing of the TSH-β subunit gene revealed a homozygous single nucleotide deletion in codon 105, producing a frame shift and resulting in inactive TSH. This mutation has previously been reported in a Brazilian family, two German families, and a Belgian family. Our case, along with a review of the other reports, supports the theory that this mutation may be a common cause of isolated TSH deficiency.

Original languageEnglish (US)
Pages (from-to)669-672
Number of pages4
JournalJournal of Pediatric Endocrinology and Metabolism
Volume17
Issue number4
StatePublished - 2004

Fingerprint

Hypothyroidism
Congenital Hypothyroidism
Mutation
Thyrotropin
Thyroxine
Codon
Genes
Nucleotides

Keywords

  • Central hypothyroidism
  • TSH-β subunit

ASJC Scopus subject areas

  • Endocrinology
  • Pediatrics, Perinatology, and Child Health

Cite this

@article{b247479f8d9149158daf035ca06968eb,
title = "Hypothyroidism in siblings due to a homozygous mutation of the TSH-β subunit gene",
abstract = "We report two American sisters of Scottish-Irish ancestry with isolated thyrotropin (TSH) deficiency. The diagnosis of central congenital hypothyroidism was based on low levels of TSH and free thyroxine. Sequencing of the TSH-β subunit gene revealed a homozygous single nucleotide deletion in codon 105, producing a frame shift and resulting in inactive TSH. This mutation has previously been reported in a Brazilian family, two German families, and a Belgian family. Our case, along with a review of the other reports, supports the theory that this mutation may be a common cause of isolated TSH deficiency.",
keywords = "Central hypothyroidism, TSH-β subunit",
author = "Felner, {Eric I.} and Dickson, {Bryan A.} and White, {Perrin C.}",
year = "2004",
language = "English (US)",
volume = "17",
pages = "669--672",
journal = "Journal of Pediatric Endocrinology and Metabolism",
issn = "0334-018X",
publisher = "Walter de Gruyter GmbH & Co. KG",
number = "4",

}

TY - JOUR

T1 - Hypothyroidism in siblings due to a homozygous mutation of the TSH-β subunit gene

AU - Felner, Eric I.

AU - Dickson, Bryan A.

AU - White, Perrin C.

PY - 2004

Y1 - 2004

N2 - We report two American sisters of Scottish-Irish ancestry with isolated thyrotropin (TSH) deficiency. The diagnosis of central congenital hypothyroidism was based on low levels of TSH and free thyroxine. Sequencing of the TSH-β subunit gene revealed a homozygous single nucleotide deletion in codon 105, producing a frame shift and resulting in inactive TSH. This mutation has previously been reported in a Brazilian family, two German families, and a Belgian family. Our case, along with a review of the other reports, supports the theory that this mutation may be a common cause of isolated TSH deficiency.

AB - We report two American sisters of Scottish-Irish ancestry with isolated thyrotropin (TSH) deficiency. The diagnosis of central congenital hypothyroidism was based on low levels of TSH and free thyroxine. Sequencing of the TSH-β subunit gene revealed a homozygous single nucleotide deletion in codon 105, producing a frame shift and resulting in inactive TSH. This mutation has previously been reported in a Brazilian family, two German families, and a Belgian family. Our case, along with a review of the other reports, supports the theory that this mutation may be a common cause of isolated TSH deficiency.

KW - Central hypothyroidism

KW - TSH-β subunit

UR - http://www.scopus.com/inward/record.url?scp=3142680443&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=3142680443&partnerID=8YFLogxK

M3 - Article

VL - 17

SP - 669

EP - 672

JO - Journal of Pediatric Endocrinology and Metabolism

JF - Journal of Pediatric Endocrinology and Metabolism

SN - 0334-018X

IS - 4

ER -