Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene

Pediatric Reports

Luigina Spaccini¹  Sara Gatto²  Gianluca Lista²  Gianvincenzo Zuccotti³  Rossella Lamberti³  Claudia Viggiano³  Valeria Calcaterra⁴ 

[1] Clinical Genetics Unit, Department of Obstetrics and Gynecology, “V. Buzzi” Children’s Hospital, University of Milan, 20154 Milan, Italy;Neonatal Pathology and Neonatal Intensive Care Unit, Department of Pediatrics, “V. Buzzi” Children’s Hospital, University of Milan, 20154 Milan, Italy;Pediatric Unit, Department of Pediatrics, “Vittore Buzzi” Children’s Hospital, 20154 Milan, Italy;Pediatric and Adolescent Unit, Department of Internal Medicine, University of Pavia, 27100 Pavia, Italy;

关键词: congenital goiter;    primary congenital hypothyroidism;    thyroid dyshormonogenesis;    newborn;   

DOI  :  10.3390/pediatric13020029

来源: DOAJ

【 摘 要 】

Congenital goiter is an uncommon cause of neck swelling and it can be associated with hypothyroidism. We discuss a case of primary hypothyroidism with goiter presenting at birth. Ultrasound showed the enlargement of the gland and thyroid function tests detected marked hypothyroidism. Genetic analysis via next generation sequencing (NGS) was performed finding two mutations associated with thyroid dyshormonogenesis: c.7813 C > T, homozygous in the exon 45 of the thyroglobulin gene (TG) and c.1682 G > A heterozygous in exon 15 of the SLC26A4 gene (pendrin). Sanger sequencing of parents’ DNA samples revealed that the first mutation (c.7813 C > T) was inherited from both of them, while the second one (c.1682 G > A) was inherited from the mother. Hormone replacement therapy was started, following which a gradual decrease in the size of the goiter was seen with the normalization of hormonal levels. Normal infant growth status and neurological development were recorded during follow-up. Neonatal dyshormonogenetic goiter with hypothyroidism may represent an unusual cause of neonatal neck mass. Early identification and hormone replacement therapy are crucial for a better neurodevelopmental outcome. Genetic analysis is mandatory in order to reach a specific diagnosis and to elucidate new patterns of thyroid disorder.

【 授权许可】

Unknown