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Cited by 16Thyroid Disorders and TreatmentsHead and Neck AnomaliesThyroid Cancer Diagnosis and Treatment

First case of fetal goitrous hypothyroidism due to SLC5A5/NIS mutations

Stoupa, Athanasia, Al Hage Chehade, Ghada, Kariyawasam, Dulanjalee, Tohier, Celine, Bole-Feysot, Christine, Nitschke, Patrick, Thibault, Helene, Jullie, Marie-Laure +2 more·2020·European Journal of Endocrinology
DOI 10.1530/eje-20-0255
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Abstract

BACKGROUND: Among patients with congenital hypothyroidism, 35% have dyshormonogenesis (DH) with thyroid gland in situ with or without goiter. The majority of DH cases are due to mutations in genes involved in thyroid hormone production as TG, TPO, SLC5A5/NIS, SLC26A4/PDS, IYD/DEHAL1, DUOX2, and DUOXA2, and are usually inherited on an autosomal recessive basis. Most previously reported cases of fetal hypothyroidism and goiter were related to TG or TPO mutations and recently DUOXA2. PATIENT: In a male patient with antenatal goiter treated with intraamniotic levothyroxine injections, whose long-term follow-up is described in detail, two novel NIS mutations were detected. Mutations of NIS were located in exon 1 (c.52G>A, p.G18R) and exon 13 (c.1546C>T, p.R516X), each mutation was inherited from parents, who are healthy carriers. The p.G18R mutation affecting the first transmembrane domain of the protein can be responsible for deficient iodide uptake. However, the second is a nonsense mutation leading probably to mRNA degradation. In addition, the patient has undergone a thyroidectomy and we have studied the thyroid tissue. The thyroid histology showed heterogeneity with large follicles, epithelial hyperplasia and many areas of fibrosis. Immunohistochemistry with NIS specific antibody showed NIS staining at the basolateral plasma membrane of the thyrocytes. CONCLUSIONS: We report the first case of fetal goitrous hypothyroidism due to two novel NIS mutations with access to thyroid tissue of the patient, specific histology studies and long-term follow-up. This case expands our knowledge and provides further insights on molecular causes of fetal goiter in humans.

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Crossref · 10.1530/eje-20-0255

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  • Genetic mutations of thyroid-specific proteins play a role in the development of fetal goiters.

    “Genetic mutations of thyroid-specific proteins also play a role in the development of fetal goiters (249–251).”

    From Levothyroxine: conventional and novel drug delivery formulations. (2023) · cites this paper as [251]

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Authors
Stoupa, A., Al Hage Chehade, G., Kariyawasam, D., Tohier, C., Bole-Feysot, C., Nitschke, P., Thibault, H., Jullie, M.-L., Polak, M., & Carré, A.
Affiliations
  • Hôpital Necker-Enfants Malades (FR)
  • 3Pediatric Endocrinology, Gynecology and Diabetology Unit, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Paris, France
  • Inserm (FR)
  • 4Genomics Platform, INSERM UMR 1163, Imagine Institute, Paris Descartes Sorbonne Paris Cite University, Paris, France
  • 5Bioinformatics Platform, IMAGINE Institute, Paris Descartes University, Paris, France
  • Bordeaux Population Health (FR)
  • 7Department of Pathology, CHU de Bordeaux, Bordeaux, France
Corresponding author
  • Polak, Michel
  • Carré, Aurore
ORCID
Venue
European Journal of Endocrinology
Publisher
Oxford University Press (OUP)
Published
2020-11
Volume
183
Issue
5
Pages
K1-K5
ISSN
  • 0804-4643 (ISSN-L)
  • 1479-683X
DOI
10.1530/eje-20-0255
OpenAlex
W3057257256
Cited by
16
References
9
Citations by year
2026: 2 · 2025: 4 · 2023: 1 · 2022: 3 · 2021: 6
FWCI
1.89
Type
journal article
Language
en
Open access
closed
Locations
  • European Journal of Endocrinology (publishedVersion)
  • PubMed (publishedVersion)
  • HAL (submittedVersion)
  • Oskar-Bordeaux (Universite de Bordeaux) (submittedVersion)
Topics
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Disorders and Treatments
  • Health Sciences › Medicine › Surgery › Head and Neck Anomalies
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Cancer Diagnosis and Treatment
Keywords
sodium iodide symporter, congenital hypothyroidism, dyshormonogenesis, novel mutations, thyroidectomy, long-term follow-up
MeSH terms
Sodium-Iodide Symporters, Adolescent, Child, Child, Preschool, Congenital Hypothyroidism, Goiter, Humans, Infant, Infant, Newborn, Male, Mutation, Prenatal Diagnosis, Thyroxine, Treatment Outcome, Symporters, Young Adult

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