Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess

Toshihiko Kasahara, Satoshi Narumi, Keisuke Okasora, Ryuzo Takaya, Hiroshi Tamai, Tomonobu Hasegawa

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

Congenital hypothyroidism (CH), one of the most common congenital endocrine disorders, causes irreversible intellectual disability in untreated patients. Today, the vast majority of patients receive early diagnosis and treatment in the context of newborn screening for CH, and achieve satisfactory cognitive development. However, a subset of patients with delayed onset are undetectable by newborn screening, and miss benefit from early intervention. Here, we report on a delayed-onset CH patient that had two contributing factors in the pathogenesis of CH simultaneously, i.e., a genetic defect and iodine excess. The patient was exposed to excessive iodine in utero because her mother consumed massive amounts of seaweed during pregnancy. Surprisingly, the patient had a negative result in newborn screening, but developed overt CH at age 3 months. She received thyroxine supplementation until when normalization of the thyroid function was confirmed at age 3 years (i.e., transient CH). Mutation screening for DUOX2, a causative gene for transient CH, showed biallelic mutations (p.[E327X]+[H678R]). This report provides a new example of environmental modification of phenotypes of CH due to a genetic defect, which can potentially distort screening results.

Original languageEnglish
Pages (from-to)214-217
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume161
Issue number1
DOIs
Publication statusPublished - 2013 Jan

Fingerprint

Congenital Hypothyroidism
Iodine
Mothers
Mutation
Newborn Infant
Seaweed
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Thyroxine
Intellectual Disability
Early Diagnosis
Thyroid Gland
Phenotype
Pregnancy

Keywords

  • Congenital hypothyroidism
  • DUOX2
  • False negative reactions
  • Iodine
  • Neonatal screening

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess. / Kasahara, Toshihiko; Narumi, Satoshi; Okasora, Keisuke; Takaya, Ryuzo; Tamai, Hiroshi; Hasegawa, Tomonobu.

In: American Journal of Medical Genetics, Part A, Vol. 161, No. 1, 01.2013, p. 214-217.

Research output: Contribution to journalArticle

Kasahara, Toshihiko ; Narumi, Satoshi ; Okasora, Keisuke ; Takaya, Ryuzo ; Tamai, Hiroshi ; Hasegawa, Tomonobu. / Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess. In: American Journal of Medical Genetics, Part A. 2013 ; Vol. 161, No. 1. pp. 214-217.
@article{9bdc7ca0bcb04d52a324bd5d29d85fe2,
title = "Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess",
abstract = "Congenital hypothyroidism (CH), one of the most common congenital endocrine disorders, causes irreversible intellectual disability in untreated patients. Today, the vast majority of patients receive early diagnosis and treatment in the context of newborn screening for CH, and achieve satisfactory cognitive development. However, a subset of patients with delayed onset are undetectable by newborn screening, and miss benefit from early intervention. Here, we report on a delayed-onset CH patient that had two contributing factors in the pathogenesis of CH simultaneously, i.e., a genetic defect and iodine excess. The patient was exposed to excessive iodine in utero because her mother consumed massive amounts of seaweed during pregnancy. Surprisingly, the patient had a negative result in newborn screening, but developed overt CH at age 3 months. She received thyroxine supplementation until when normalization of the thyroid function was confirmed at age 3 years (i.e., transient CH). Mutation screening for DUOX2, a causative gene for transient CH, showed biallelic mutations (p.[E327X]+[H678R]). This report provides a new example of environmental modification of phenotypes of CH due to a genetic defect, which can potentially distort screening results.",
keywords = "Congenital hypothyroidism, DUOX2, False negative reactions, Iodine, Neonatal screening",
author = "Toshihiko Kasahara and Satoshi Narumi and Keisuke Okasora and Ryuzo Takaya and Hiroshi Tamai and Tomonobu Hasegawa",
year = "2013",
month = "1",
doi = "10.1002/ajmg.a.35693",
language = "English",
volume = "161",
pages = "214--217",
journal = "American Journal of Medical Genetics",
issn = "1552-4868",
publisher = "Wiley-Liss Inc.",
number = "1",

}

TY - JOUR

T1 - Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess

AU - Kasahara, Toshihiko

AU - Narumi, Satoshi

AU - Okasora, Keisuke

AU - Takaya, Ryuzo

AU - Tamai, Hiroshi

AU - Hasegawa, Tomonobu

PY - 2013/1

Y1 - 2013/1

N2 - Congenital hypothyroidism (CH), one of the most common congenital endocrine disorders, causes irreversible intellectual disability in untreated patients. Today, the vast majority of patients receive early diagnosis and treatment in the context of newborn screening for CH, and achieve satisfactory cognitive development. However, a subset of patients with delayed onset are undetectable by newborn screening, and miss benefit from early intervention. Here, we report on a delayed-onset CH patient that had two contributing factors in the pathogenesis of CH simultaneously, i.e., a genetic defect and iodine excess. The patient was exposed to excessive iodine in utero because her mother consumed massive amounts of seaweed during pregnancy. Surprisingly, the patient had a negative result in newborn screening, but developed overt CH at age 3 months. She received thyroxine supplementation until when normalization of the thyroid function was confirmed at age 3 years (i.e., transient CH). Mutation screening for DUOX2, a causative gene for transient CH, showed biallelic mutations (p.[E327X]+[H678R]). This report provides a new example of environmental modification of phenotypes of CH due to a genetic defect, which can potentially distort screening results.

AB - Congenital hypothyroidism (CH), one of the most common congenital endocrine disorders, causes irreversible intellectual disability in untreated patients. Today, the vast majority of patients receive early diagnosis and treatment in the context of newborn screening for CH, and achieve satisfactory cognitive development. However, a subset of patients with delayed onset are undetectable by newborn screening, and miss benefit from early intervention. Here, we report on a delayed-onset CH patient that had two contributing factors in the pathogenesis of CH simultaneously, i.e., a genetic defect and iodine excess. The patient was exposed to excessive iodine in utero because her mother consumed massive amounts of seaweed during pregnancy. Surprisingly, the patient had a negative result in newborn screening, but developed overt CH at age 3 months. She received thyroxine supplementation until when normalization of the thyroid function was confirmed at age 3 years (i.e., transient CH). Mutation screening for DUOX2, a causative gene for transient CH, showed biallelic mutations (p.[E327X]+[H678R]). This report provides a new example of environmental modification of phenotypes of CH due to a genetic defect, which can potentially distort screening results.

KW - Congenital hypothyroidism

KW - DUOX2

KW - False negative reactions

KW - Iodine

KW - Neonatal screening

UR - http://www.scopus.com/inward/record.url?scp=84871677308&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84871677308&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.35693

DO - 10.1002/ajmg.a.35693

M3 - Article

VL - 161

SP - 214

EP - 217

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

SN - 1552-4868

IS - 1

ER -