A case report: COL1A1 mutation with albright hereditary osteodystrophy (AHO) features

Ratikorn Chaisiwamongkol; Pattata Wiromrat; Khunton Wichajarn

doi:10.1530/endoabs.110.EP308

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Endocrine Abstracts (2025) 110 EP308 | DOI: 10.1530/endoabs.110.EP308

ECEESPE2025 ePoster Presentations Bone and Mineral Metabolism (142 abstracts)

A case report: COL1A1 mutation with albright hereditary osteodystrophy (AHO) features

Ratikorn Chaisiwamongkol ¹ , Pattata Wiromrat ¹ & Khunton Wichajarn ¹

Author affiliations

¹Khon Kaen University, Pediatric, Khon Kaen, Thailand

JOINT2721

This case report outlines the clinical presentation, diagnostic journey, and treatment response of a 21-year-old female initially referred at age 6 with recurrent fractures. Genetic testing confirmed a COL1A1 mutation commonly associated with osteogenesis imperfecta (OI), but the patient also exhibited features suggestive of Albright Hereditary Osteodystrophy (AHO). Whole genome sequencing ruled out GNAS mutation, prompting a discussion on the phenotypic spectrum of COL1A1 mutations.