Concurrent <i>THRB</i> and <i>DUOX2</i> variants in a patient detected via newborn screening for congenital hypothyroidism: a case of resistance to thyroid hormone
Megumi Hatano,
Kanako Tanase-Nakao,
Erika Uehara
et al.
Abstract:.
Most patients with resistance to thyroid hormone (RTH) test negative in newborn screening
(NBS) for congenital hypothyroidism (CH). Here, we present a case of RTH diagnosed through
NBS. The patient presented to us after her NBS for CH revealed high TSH (23.4 µIU/mL) and
free T4 (FT4) (5.40 ng/dL) levels. Apart from tachycardia, she exhibited no other
manifestations related to excess or deficiency of thyroid hormones. A confirmatory test
replicated the findings, showing elevated serum TSH levels (3… Show more
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