Ng Chrislyn, Ng Anne Trinh, Zebaze Roger, Zebaze Cat Shore-Lorenti, Ebeling Peter R, Milat Frances
Department of Endocrinology, Monash Health, Clayton, Melbourne, Australia.
Department of Medicine, School of Clinical Sciences, Monash University, Clayton, Melbourne, Australia.
JBMR Plus. 2024 Dec 5;9(1):ziae134. doi: 10.1093/jbmrpl/ziae134. eCollection 2025 Jan.
Osteogenesis imperfecta (OI) is an uncommon bone disorder caused by mutations in type I collagen involved in bone matrix leading to increased fracture risk. There are several sub-categories within OI, with OI type I being the most common and mildest form. Women with OI considering pregnancy need to be aware of bone loss and fracture risk, particularly with lactation. We report the first case of a female with twin pregnancy and OI type I who presented with multiple vertebral fractures following delivery and postpartum lactation. Following endocrine review, she weaned breast-feeding but represented within weeks with further pain and magnetic resonance imaging (MRI) demonstrating new T12 and L1 fractures. Even after receiving intravenous zoledronic acid, she experienced further thoracic pain after lifting, and MRI demonstrated a further T7 fracture. Following modification of her treatment regimen to daily teriparatide injections for 12 months, repeat dual-energy X-ray absorptiometry scan showed a significant improvement in bone mineral density at the lumbar spine and left hip. Bone loss with lactation is an important consideration for women with OI considering pregnancy. Women with OI should be assessed by an endocrinologist prior to conception to optimize bone health and have an individualized plan to mitigate bone loss and fracture risk during pregnancy and the postpartum period.
成骨不全症（OI）是一种罕见的骨骼疾病，由参与骨基质的I型胶原蛋白突变引起，导致骨折风险增加。OI有几个亚类，其中I型OI是最常见和最轻微的形式。考虑怀孕的OI女性需要意识到骨质流失和骨折风险，尤其是在哺乳期。我们报告了第一例患有双胎妊娠和I型OI的女性病例，该患者在分娩和产后哺乳后出现多处椎体骨折。在内分泌检查后，她停止了母乳喂养，但在几周内再次出现疼痛，磁共振成像（MRI）显示新的T12和L1骨折。即使接受了静脉注射唑来膦酸治疗，她在提重物后仍出现进一步的胸痛，MRI显示又有T7骨折。在将治疗方案改为每日注射特立帕肽12个月后，重复双能X线吸收法扫描显示腰椎和左髋部的骨密度有显著改善。对于考虑怀孕的OI女性来说，哺乳期的骨质流失是一个重要的考虑因素。OI女性在受孕前应由内分泌专家进行评估，以优化骨骼健康，并制定个性化计划，以减轻怀孕和产后期间的骨质流失和骨折风险。
