잠시만 기다려 주세요. 로딩중입니다.

Persistent goiter with congenital hypothyroidism due to mutation in DUOXA2 gene

Annals of Pediatric Endocrinology & Metabolism 2020년 25권 1호 p.57 ~ 62
정소윤, 이정호, 이동환,
소속 상세정보
정소윤 ( Jung So-Yoon ) - Soonchunhyang University Seoul Hospital Department of Pediatrics
이정호 ( Lee Jeong-Ho ) - Soonchunhyang University Seoul Hospital Department of Pediatrics
이동환 ( Lee Dong-Hwan ) - Soonchunhyang University Seoul Hospital Department of Pediatrics

Abstract


Thyroid hormones are crucial for development of the central nervous system. Congenital hypothyroidism (CH) is the most common preventable disease resulting in mental retardation. A neonatal screening test (NST) can detect a mild form of CH that can be treated at an early age. Generally after 3 years of age, when most of the brain has matured, clinicians consider reevaluation of thyroid function for CH patients that have been identified with a normal thyroid gland at a normal position. This report presents three CH patients that developed normally, with persistent goiter despite thyroid hormone supplements. The patients’ initial thyroid-stimulating hormone (TSH) level after NST was 47, 157, and 57 mIU/L, respectively. Levothyroxine administration began at 1 or 2 months of age and was terminated after reevaluation at the age of 3, 15, and 5 years, respectively. However, 1 or 2 years later, they all resumed their medication due to increased TSH level coupled with newly developed or enlarged goiter. They all showed dual oxidase maturation factor 2 (DUOXA2) gene mutation: a homozygous mutation with DUOXA2 (c.413dupA; p.Tyr138*) in case 1, a presumed compound heterozygotic mutation with DUOXA2 (p.Tyr138*/p.Tyr246*) in case 2, and heterozygous mutations with DUOXA2 (c.738C>G; p.Tyr246*) and TPO (c.2268dupT; p.Glu757*) in case 3. When goiter persists or is newly developed despite a maintained euthyroid status, for those with transient CH history, follow-up to assess the thyroid function is recommended for at least 1 or 2 years, and genetic testing would be helpful. This study presents the first clinical cases of DUOXA2 mutation in Korea.

키워드

Congenital hypothyroidism; Goiter; Genes

원문 및 링크아웃 정보

 

등재저널 정보

KCI
KoreaMed
KAMS