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Genetic analysis in children with transient thyroid dysfunction or subclinical hypothyroidism detected on neonatal

Mari Satoh1, Keiko Aso, Sayaka Ogikubo

  • 1Department of Pediatrics, Toho University Omori Medical Center, Tokyo, Japan.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology
|August 9, 2013
PubMed

Insights

Genetic factors may influence transient thyroid dysfunction and subclinical hypothyroidism in newborns. This study investigated mutations in TSH receptor (TSHR), thyroid peroxidase (TPO), and DUOX2 genes in affected infants.

Area of Science:

  • Endocrinology
  • Genetics
  • Neonatal Medicine

Background:

  • Neonatal screening identifies elevated thyroid-stimulating hormone (TSH) in infants, with about 30% experiencing transient dysfunction.
  • A significant portion of false-positive screenings may develop persistent subclinical hypothyroidism later in childhood.

Purpose of the Study:

  • To investigate the role of genetic background in transient thyroid dysfunction and subclinical hypothyroidism detected during neonatal screening.
  • To analyze specific genes associated with neonatal thyroid disorders.

Main Methods:

  • Analysis of TSH receptor (TSHR), thyroid peroxidase (TPO), and dual oxidase 2 (DUOX2) genes.
  • Study included nine children diagnosed with transient thyroid dysfunction or subclinical hypothyroidism post-neonatal screening.

Main Results:

  • One child was found to be heterozygous for a TSHR gene mutation (R450H).
  • Another child carried a heterozygous mutation in the TPO gene (P883S).
  • No mutations were identified in the DUOX2 gene among the studied children.

Conclusions:

  • Genetic background may play a role in the development of transient thyroid dysfunction and subclinical hypothyroidism identified through neonatal screening.
  • Specific gene mutations in TSHR and TPO are associated with these neonatal thyroid conditions.

Keywords:
TSH receptorneonatal screeningsubclinical hypothyroidismthyroid peroxidasetransient hyperthyrotropinemia

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