De novo ARID1A Coffin-Siris syndrome with hypothyroidism and dyslipidemia: A case report and literature review

doi:10.12998/wjcc.120716

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World Journal of Clinical Cases

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2307-8960

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

Case Report

Copyright: ©Author(s) 2026. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution-NonCommercial (CC BY-NC 4.0) license. No commercial re-use. See permissions. Published by Baishideng Publishing Group Inc.

World J Clin Cases. Jul 6, 2026; 14(19): 120716
Published online Jul 6, 2026. doi: 10.12998/wjcc.120716

De novo ARID1A Coffin-Siris syndrome with hypothyroidism and dyslipidemia: A case report and literature review

Michael N Fragos, Ilektra Toulia, Maria G Grammatikopoulou, Parthena Savvidou, Ioannis Taiganidis, Panagiota Zissiadis, Charalampos Antachopoulos, Dimitrios G Goulis, Kyriaki Tsiroukidou

Michael N Fragos, Ilektra Toulia, Ioannis Taiganidis, Panagiota Zissiadis, Kyriaki Tsiroukidou, Pediatric Endocrinology Unit, 3^rd Department of Pediatrics, Hippokration General Hospital of Thessaloniki, Aristotle University of Thessaloniki, Thessaloniki GR-54642, Kentrikí Makedonía, Greece

Maria G Grammatikopoulou, Immunonutrition Unit, Department of Rheumatology and Clinical Immunology, Larissa University General Hospital, Medical School, Faculty of Health Sciences, University of Thessaly, Larissa GR-41223, Greece

Parthena Savvidou, Endocrine Unit, 3^rd Department of Pediatric, Hippokration General Hospital, Aristotle University of Thessaloniki, Thessaloniki GR-54642, Kentrikí Makedonía, Greece

Charalampos Antachopoulos, 3^rd Department of Pediatrics, Hippokration General Hospital, Aristotle University of Thessaloniki, Thessaloniki GR-54642, Kentrikí Makedonía, Greece

Dimitrios G Goulis, Unit of Reproductive Endocrinology, 1^st Department of Obstetrics and Gynecology, Faculty of Health Sciences, Medical School, Aristotle University of Thessaloniki, Thessaloniki GR-54124, Greece

Co-first authors: Michael N Fragos and Ilektra Toulia.

Author contributions: Toulia I, Taiganidis I, Zissiadis P, Savvidou P, and Tsiroukidou K performed clinical assessments and examinations, contributing to data collection; Fragos MN, Toulia I, and Grammatikopoulou MG contributed to writing, reviewing and editing the manuscript; Tsiroukidou K, Grammatikopoulou MG, Antachopoulos C, and Goulis DG contributed to interpretation; Tsiroukidou K contributed to the conceptualization and methodology; Tsiroukidou K and Grammatikopoulou MG supervised the work; and all authors have read and approved the final version to be published.

AI contribution statement: No AI tool was involved in the generation of research data, interpretation of results, or formulation of conclusions.

Informed consent statement: Written informed consent was obtained from the patient and his parents for publication of this report and any accompanying images.

Conflict-of-interest statement: The authors declare that they have no conflict of interest to disclose.

CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).

Corresponding author: Maria G Grammatikopoulou, PhD, Assistant Professor, Immunonutrition Unit, Department of Rheumatology and Clinical Immunology, Larissa University General Hospital, Medical School, Faculty of Health Sciences, University of Thessaly, Biopolis Campus, Larissa GR-41223, Greece. mgrammat@uth.gr

Received: March 6, 2026
Revised: May 15, 2026
Accepted: June 5, 2026
Published online: July 6, 2026
Processing time: 118 Days and 14.6 Hours

Core Tip

Core Tip: Coffin-Siris syndrome (CSS) is a rare neurodevelopmental disorder involving the BRG1/BRM-associated factor (SWI/SNF) chromatin-remodeling complex, characterized by coarse facial features, distal phalanx hypoplasia/aplasia, developmental delay, and multisystem involvement. We report a child with CSS, subclinical hypothyroidism, and familial hypercholesterolemia caused by a heterozygous LDLR variant. Lifestyle changes and levothyroxine initially improved growth (7.6 cm/year), but growth velocity subsequently declined (4.2 cm/year) in parallel to insulin-like growth factor 1 levels. A glucagon stimulation test confirmed growth hormone (GH) deficiency. Recombinant GH therapy in ARID1A-related CSS should be individualized because impaired tumor suppression and possible hepatocyte damage may increase hepatoblastoma risk.