Permanent Congenital Hypothyroidism due to Rare Thyroglobulin Gene Variant (p.Cys1476Arg): A Delayed Diagnosis of Thyroid Dyshormonogenesis
Thyroid dyshormonogenesis is an inherited hypothyroidism caused by a monogenic defect, in the vast majority of cases, in thyroid hormone biosynthesis. It is commonly associated with thyroid enlargement which is vulnerable to nodule formation. We present a Qatari patient with an overlooked diagnosis...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/carm/5313611 |
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