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Double variants in TSHR and DUOX2 in a patient with hypothyroidism: case report


Sasivari, Zerin; Szinnai, Gabor; Seebauer, Britta; Konrad, Daniel; Lang-Muritano, Mariarosaria (2019). Double variants in TSHR and DUOX2 in a patient with hypothyroidism: case report. Journal of Pediatric Endocrinology & Metabolism, 32(11):1299-1303.

Abstract

Thyroid dyshormonogenesis (TDH) is characterized by the defective synthesis of thyroid hormones. We present a patient with congenital hypothyroidism (CH) who presented in newborn screening with elevated serum thyroid-stimulating hormone (TSH), decreased free thyroxine (fT<jats:sub>4</jats:sub>) and increased thyroglobulin (Tg) concentrations. Ultrasound scan revealed a properly structured thyroid gland. Treatment with L-thyroxine was initiated. At the age of 2 years, thyroxine replacement was stopped. The patient remained untreated until 6 years of age when TSH levels progressively increased and L-thyroxine treatment was restarted at a dose of 12.5 μg/day. Genetic analysis revealed a double heterozygosity for likely pathogenic variants of dual oxidase 2 (<jats:italic>DUOX2</jats:italic>) and thyroid stimulating hormone receptor <jats:italic>(TSHR</jats:italic>). Both genes were earlier shown to be associated with CH. In a literature review, our patient was compared to previously published patients with similar clinical characteristics, and a good genotype-phenotype correlation was identified.

Abstract

Thyroid dyshormonogenesis (TDH) is characterized by the defective synthesis of thyroid hormones. We present a patient with congenital hypothyroidism (CH) who presented in newborn screening with elevated serum thyroid-stimulating hormone (TSH), decreased free thyroxine (fT<jats:sub>4</jats:sub>) and increased thyroglobulin (Tg) concentrations. Ultrasound scan revealed a properly structured thyroid gland. Treatment with L-thyroxine was initiated. At the age of 2 years, thyroxine replacement was stopped. The patient remained untreated until 6 years of age when TSH levels progressively increased and L-thyroxine treatment was restarted at a dose of 12.5 μg/day. Genetic analysis revealed a double heterozygosity for likely pathogenic variants of dual oxidase 2 (<jats:italic>DUOX2</jats:italic>) and thyroid stimulating hormone receptor <jats:italic>(TSHR</jats:italic>). Both genes were earlier shown to be associated with CH. In a literature review, our patient was compared to previously published patients with similar clinical characteristics, and a good genotype-phenotype correlation was identified.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Scopus Subject Areas:Health Sciences > Pediatrics, Perinatology and Child Health
Health Sciences > Endocrinology, Diabetes and Metabolism
Life Sciences > Endocrinology
Uncontrolled Keywords:Pediatrics, Perinatology, and Child Health, Endocrinology, Diabetes and Metabolism, Endocrinology
Language:English
Date:26 November 2019
Deposited On:09 Jan 2020 09:02
Last Modified:21 Sep 2020 00:00
Publisher:De Gruyter
ISSN:0334-018X
OA Status:Green
Publisher DOI:https://doi.org/10.1515/jpem-2019-0051
PubMed ID:31541602

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