Effects of vitamin D supplementation on autoantibodies and thyroid function in patients with Hashimoto's thyroiditis: A systematic review and meta-analysis.

Background: Hashimoto's thyroiditis (HT) is the prevailing form of autoimmune thyroiditis and the leading cause of hypothyroidism in iodine-sufficient regions worldwide. This study aims to evaluate the efficacy of vitamin D supplementation on HT through a meta-analysis of randomized controlled trials (RCTs).

Methods: The databases searched included PubMed, and others.

Identification of Novel Compound Heterozygous Variants of the Gene in Boucher-Neuhäuser Syndrome.

Boucher-Neuhäuser syndrome (BNS, MIM 215470) is a rare autosomal recessive syndrome caused by mutations in the gene. Few BNS cases have been reported for functional validation at the RNA level. Herein, we report on the family of a 17-year-old girl with clinical characteristics of BNS, genetic validation, and a systematic review of variants related to BNS.