Tempone Cardoso Penna Gustavo, Costa Figueiredo Carolina, de Araújo Evangelista Nara Michelle, Tonetto Fernandes Vânia de Fátima, Salmona Patricia, de Paula Colares Neto Guido
Centro Universitário São Camilo, Faculdade de Medicina. Avenida Nazaré, São Paulo, São Paulo, Brasil.
Hospital Infantil Darcy Vargas. Rua Dr. Seráfico de Assis Carvalho, São Paulo, São Paulo, Brasil.
AACE Clin Case Rep. 2024 Sep 14;11(1):18-23. doi: 10.1016/j.aace.2024.09.004. eCollection 2025 Jan-Feb.
BACKGROUND/OBJECTIVE: Individuals with X-linked hypophosphatemia (XLH) generally experience normal puberty. However, the prevalence of central precocious puberty (CPP) in patients with XLH seems to be similar to that of the general population, and CPP may similarly impact their predicted final height.
A female patient was diagnosed with XLH at 3 years old and received regular calcitriol and sodium-potassium phosphate treatment until age six. During this period, she showed increased growth velocity and improved height Z-score (from -2.38 SD to -1.95 SD). At 6 years and 11 months, she was diagnosed with idiopathic CPP, marked by thelarche, a growth spurt, and advanced bone age, resulting in a decreased predicted final height Z-score. She began pubertal blockade with leuprolide acetate and transitioned from conventional XLH treatment to burosumab. The combination of these treatments led to stabilized bone age, normalized growth velocity, and improved final height prediction without side effects or negative impacts on bone health during treatment.
Although the prevalence of CPP in XLH patients has not been extensively studied, CPP in XLH may affect final height and worsen rickets by increasing mineral demands during growth spurts. Thus, CPP can be treated in patients with XLH, who may have compromised height outcomes, using synthetic gonadotropin-releasing hormone analogs.
In the described XLH patient with CPP, the combined use of gonadotropin-releasing hormone analogs and burosumab was a safe strategy to stabilize pubertal progression and bone age, minimize anthropometric loss, and avoid exacerbating bone deformities.
背景/目的：X连锁低磷血症（XLH）患者通常青春期发育正常。然而，XLH患者中枢性性早熟（CPP）的患病率似乎与普通人群相似，且CPP可能同样会影响他们预测的最终身高。
一名女性患者3岁时被诊断为XLH，6岁前接受常规骨化三醇和磷酸钠钾治疗。在此期间，她的生长速度加快，身高Z评分有所改善（从-2.38标准差提高到-1.95标准差）。6岁11个月时，她被诊断为特发性CPP，表现为乳房发育、生长加速和骨龄提前，导致预测的最终身高Z评分降低。她开始使用醋酸亮丙瑞林进行青春期阻断，并从传统的XLH治疗转为布罗索尤单抗治疗。这些治疗方法的联合使用使骨龄稳定，生长速度正常化，并改善了最终身高预测，且在治疗期间没有副作用或对骨骼健康产生负面影响。
虽然XLH患者中CPP的患病率尚未得到广泛研究，但XLH中的CPP可能会影响最终身高，并通过在生长加速期增加矿物质需求而使佝偻病恶化。因此，对于可能影响身高结局的XLH患者，可以使用合成促性腺激素释放激素类似物治疗CPP。
在所描述的患有CPP的XLH患者中，联合使用促性腺激素释放激素类似物和布罗索尤单抗是一种安全的策略，可稳定青春期进展和骨龄，减少人体测量学上的损失，并避免加重骨骼畸形。
