Berti Sabrina, Luppi Elena, Seri Marco, Zavatta Guido
Division of Endocrinology and Diabetes Prevention and Care, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy.
Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, Bologna, Italy.
JCEM Case Rep. 2023 Aug 16;1(4):luad096. doi: 10.1210/jcemcr/luad096. eCollection 2023 Jul.
Osteogenesis imperfecta (OI) is a rare heritable skeletal dysplasia, clinically characterized by abnormal bone fragility and predisposition to fractures. Here, we describe the case of a 30-year-old woman harboring a novel frameshift variant in the gene, causing a mild but characteristic phenotype of type I OI. She has blue sclerae, a medical history of fractures during infancy and puberty, a vertebral fracture at a young age, and joint hypermobility. The mutation, c.108del (p.Pro37GInfs*37), causes a premature stop codon insertion, predicted to lead to an unstable mRNA, with a consequent reduction in type I collagen quantity. At present, little is known about the evolution of this phenotype during pregnancy, lactation, and premenopause, conditions that could increase the risk of fractures. Management of type I OI in a young woman of childbearing potential is problematic because most antiosteoporotic drugs are contraindicated in pregnancy, as discussed in our brief review.
成骨不全症（OI）是一种罕见的遗传性骨骼发育不良，临床特征为骨脆性异常和易骨折倾向。在此，我们描述了一名30岁女性的病例，该女性在 基因中存在一种新的移码变异，导致了轻度但典型的I型OI表型。她有蓝色巩膜，婴儿期和青春期有骨折病史，年轻时有脊椎骨折，且关节活动过度。该突变，c.108del（p.Pro37GInfs*37），导致过早插入终止密码子，预计会导致mRNA不稳定，从而使I型胶原蛋白数量减少。目前，对于这种表型在妊娠、哺乳和绝经前（这些情况可能会增加骨折风险）期间的演变知之甚少。正如我们简短综述中所讨论的，对有生育潜力的年轻女性进行I型OI的管理存在问题，因为大多数抗骨质疏松药物在妊娠期间是禁忌的。
