Clinical and Genetic Characteristics of Adult Nonautoimmune Hypothyroidism: A Single-institution Study
Authors' conclusion
In patients with treatment-naive adult nonautoimmune hypothyroidism, thyroid dysfunction was milder and thyroid volume was smaller than in patients with autoimmune hypothyroidism. Mendelian forms were rare, but the unexpectedly high frequency of monoallelic variant carriers suggests that these variants may confer genetic risk for nonautoimmune hypothyroidism.
Study context
- Population
- Treatment-naive adult hypothyroid patients (serum TSH >10 mU/L) born before 1979, followed up at Ito Hospital, Tokyo, Japan101 sequenced
- Participants
- 1,470 patients
- Exposure
- Idiopathic nonautoimmune vs autoimmune hypothyroidism
- Idiopathic nonautoimmune hypothyroidismn = 220
- Outcome
- Proportion of idiopathic nonautoimmune hypothyroidism
Methodological detailssingle-institution, Sequencing of 13 genes associated with nonautoimmune hypothyroidism in 101 of 220 patients
- Single-institution
- Sequencing of 13 genes associated with nonautoimmune hypothyroidism in 101 of 220 patients
Main finding
As reported in the abstract
Idiopathic nonautoimmune hypothyroidism among treatment-naive nontransient hypothyroidism
15.0%
Observational data: associations, not effects.
Further findings
Serum TSH · lower with nonautoimmune
P < 0.001
Serum fT4 · higher with nonautoimmune
P < 0.001
Thyroid volume · smaller with nonautoimmune
P < 0.001
Genetic findings in analysed nonautoimmune patients
- Mendelian disorder (PAX8 most commonly affected gene)
- 5.0%
- Monoallelic variants in hypothyroidism-associated genes causing autosomal recessive defects (DUOX2, DUOXA2, SLC26A4, TG, TPO, TSHR)
- 19%
Original publication
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