MON-211 - Endocrine Manifestations in Baraitser-Winter Cerebrofrontofacial Syndrome: A Systematic Review

Background: Baraitser-Winter cerebrofrontofacial syndrome (BWCFFS) is a rare developmental disorder caused by mutations in the ACTB and ACTG1 genes, characterized by distinctive craniofacial features, brain malformations, and multi-organ involvement. While its neurodevelopmental and structural anomalies are well documented, the endocrine profile of BWCFFS remains poorly understood.

Methods: A systematic search was conducted across PubMed, Scopus, and Web of Science through April 22, 2025, following PRISMA guidelines. Eligible studies included case reports, case series, and observational studies that reported endocrine abnormalities in patients with BWCFFS. Due to the limited number of studies and small sample sizes, a meta-analysis was not performed. Data on genetic confirmation, clinical presentation, and endocrine findings were extracted and qualitatively analyzed.

Results: Seven studies met the inclusion criteria, comprising six case reports and one observational study. In six cases, the diagnosis was confirmed through identification of pathogenic variants in the ACTB gene, while one case was based on characteristic clinical features. Reported endocrine abnormalities included growth hormone deficiency, pituitary hypoplasia, persistent hyperglycemia, hypoglycemia, sex reversal, hirsutism, and exocrine pancreatic dysfunction.

Conclusion: Endocrine dysfunction is an underrecognized yet clinically relevant aspect of BWCFFS, particularly among individuals with ACTB mutations. The findings suggest a possible link between cytoskeletal abnormalities and hormone regulation, highlighting the need for routine endocrine evaluation in affected patients. Early identification and treatment of hormonal disturbances may significantly improve outcomes and quality of life.

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