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Wide Spectrum of DUOX2 Deficiency: From Life-Threatening Compressive Goiter in Infancy to Lifelong Euthyroidism
Gabrielle Dufort1, Stéphanie Larrivée-Vanier1, Dardye Eugène2
11Endocrinology Service and Research Center of the Sainte-Justine Hospital and Department of Pediatrics, Université de Montreal, Montreal, Quebec, Canada.
Insights
Bi-allelic DUOX2 variants cause variable hypothyroidism. Prompt levothyroxine (LT4) treatment is crucial for infants with goiters, and DUOX2 deficiency requires ongoing monitoring due to fluctuating clinical expression.
Area of Science:
- Genetics
- Endocrinology
- Pediatrics
Background:
- Bi-allelic DUOX2 variants are linked to congenital hypothyroidism.
- The clinical presentation and progression of DUOX2 deficiency can be highly variable.
Purpose of the Study:
- To investigate the phenotypic variability in patients with bi-allelic DUOX2 variants.
- To assess the impact of DUOX2 variants on thyroid function and clinical outcomes.
- To evaluate the necessity of surgical intervention for hypothyroid goiters in infants.
Main Methods:
- Case series describing six patients with bi-allelic DUOX2 variants.
- Analysis of clinical phenotypes, including hypothyroidism and goiter.
- Targeted exome sequencing to identify DUOX2 variants and potential modifiers.
Main Results:
- Patients exhibited a wide spectrum of phenotypes, from overt hypothyroidism to euthyroidism, despite similar DUOX2 genotypes.
- One infant with respiratory distress due to a hypothyroid goiter improved rapidly with levothyroxine (LT4) therapy.
- No significant genetic modifiers were identified through targeted exome sequencing.
Conclusions:
- Prompt LT4 replacement is effective in managing respiratory distress caused by hypothyroid goiters, potentially avoiding surgery.
- The clinical expression of DUOX2 deficiency is highly variable and can change over time, necessitating regular reevaluation of LT4 treatment.
- Genetic factors influencing DUOX2 deficiency require further investigation.
Abstract:
Six patients are described with bi-allelic DUOX2 variants and widely variable phenotypes. Patient 1 is an infant with a compressive hypothyroid goiter causing respiratory distress, which was promptly alleviated by levothyroxine (LT4). He was a compound heterozygote for DUOX2 variants, including a novel deletion of 540 base pairs. Patients 2 and 3 are siblings with the same compound heterozygous mutations of DUOX2, yet one had overt hypothyroidism at 14 months and the other lifelong euthyroidism. Patient 4 is a compound heterozygote individual and has mild persistent congenital hypothyroidism; his sister (patient 5) only had a borderline thyrotropin elevation at newborn screening, consistent with homozygous DUOX2 variants with a mild impact on enzyme activity. Their euthyroid mother (patient 6) is a compound heterozygote for the same DUOX2 mutations as her son. Targeted exome sequencing did not reveal any relevant modifiers. It is concluded that (i) prompt LT4 replacement in infants with respiratory distress due to a hypothyroid goiter makes surgery unnecessary; and (ii) the clinical expression of DUOX2 deficiency varies widely between individuals and over time, justifying periodic reevaluation of the need for LT4 replacement.
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