{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T14:29:50Z","timestamp":1777991390264,"version":"3.51.4"},"reference-count":21,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,6,27]],"date-time":"2025-06-27T00:00:00Z","timestamp":1750982400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Gabriele-de Vries syndrome (GADEVS, OMIM 617557) is a rare autosomal dominant disorder caused by pathogenic variants in the YY1 gene. This report describes a case of GADEVS with concurrent Hashimoto\u2019s thyroiditis (HT) and nanophthalmos, a previously unreported association.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation<\/jats:title><jats:p>We present a case of a 9-year-5-month-old girl who was admitted to the Pediatric Endocrinology Outpatient Clinic due to an asymptomatic neck lump and multiple malformations.Physical examination revealed mild facial dysmorphism, strabismus, an enlarged thyroid gland, and elongated fingers. Laboratory findings showed: thyroid-stimulating hormone (TSH): 68.98 \u03bcIU\/mL (reference range: 0.27\u20134.2 \u03bcIU\/mL); free thyroxine (FT4): 7.51 pmol\/L (reference range: 12\u201322 pmol\/L); anti-thyroid peroxidase antibodies:&amp;gt;600IU\/mL (reference range: 0\u201334 IU\/mL). Ultrasonography revealed that the left thyroid lobe measured 38 \u00d7 11 \u00d7 12 mm, the right lobe 39 \u00d7 11 \u00d7 13 mm, and the isthmus had a thickness of 3.2 mm. Ocular axial measurements confirmed nanophthalmos, and cognitive assessments indicated mild cognitive impairment. Whole-exome sequencing identified a novel heterozygous YY1 mutation (c.385del), resulting in a frameshift variant (p.D129Ifs*127). Levothyroxine replacement therapy successfully corrected the hypothyroidism. After three years of treatment, the patient exhibited: a height increase of 20.3 cm, and an improvement in height percentile from the 10th to the 25th percentile.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Hypothyroidism has been reported in four previous cases (12%) of GADEVS, but autoimmune thyroiditis has not been documented. This suggests that thyroid dysfunction in GADEVS may be associated with underlying immune dysfunction and warrants further evaluation. In the present case, we identified a mutation in the YY1 gene, which is associated with nanophthalmos and may underlie the ocular abnormalities such as strabismus and hyperopia. Clinically, children with GADEVS should undergo comprehensive assessments of thyroid function, thyroid autoantibodies, and ophthalmologic status to facilitate early diagnosis and treatment.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fendo.2025.1583190","type":"journal-article","created":{"date-parts":[[2025,6,27]],"date-time":"2025-06-27T04:10:26Z","timestamp":1750997426000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Hashimoto\u2019s thyroiditis and nanophthalmos in Gabriele-de Vries syndrome: a case report"],"prefix":"10.3389","volume":"16","author":[{"given":"Hui","family":"Huang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongguang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong","family":"Chai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,6,27]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.05.006","article-title":"YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction","volume":"100","author":"Gabriele","year":"2017","journal-title":"Am J Hum Genet"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2281","article-title":"Clinical analysis of Gabriele-de Vries caused by YY1 mutations and literature review","volume":"12","author":"Yang","year":"2024","journal-title":"Mol Genet Genomic Med"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61731","article-title":"Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome)","volume":"182","author":"Carminho-Rodrigues","year":"2020","journal-title":"Am J Med Genet A"},{"key":"B4","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1111\/ahg.12448","article-title":"Clinical features of patients with Yin Yang 1 deficiency causing Gabriele-de Vries syndrome: A new case and review of the literature","volume":"86","author":"Khamirani","year":"2022","journal-title":"Ann Hum Genet"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1007\/s12016-024-08996-2","article-title":"Down syndrome and autoimmune disease","volume":"66","author":"Hom","year":"2024","journal-title":"Clin Rev Allergy Immunol"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1080\/1744666x.2023.2219896","article-title":"Genetic syndromes and autoimmunity: what do we know? 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