ESPE2023 Poster Category 2 Late Breaking (77 abstracts)
Combined treatment with leuprolide acetate and burosumab in X-linked hypophosphatemic rickets and precocious puberty: a therapeutic response
Gustavo Tempone Cardoso Penna 1 , Nara Michelle de Araújo Evangelista 2 , Carolina Costa Figueiredo 2 , Vânia de Fátima Tonetto Fernandes 2 , Felipe Eduardo Correia Alves da Silva 3 , Mariana Lenza Resende 3 & Guido de Paula Colares Neto 1
1Centro Universitario São Camilo, São Paulo, Brazil. 2Hospital Infantil Darcy Vargas, São Paulo, Brazil. 3University of São Paulo, São Paulo, Brazil
Introduction: Generally, patients with X-linked hypophosphatemic rickets (XLH) experience normal puberty. However, they can be affected by metabolic and environmental factors that may predispose them to central precocious puberty (CPP) and impair their predicted final height, similar to the general population.
Case Report: A female patient was diagnosed with XLH at three and received regular treatment with calcitriol and sodium-potassium phosphate until age six. During this time, she experienced increased growth velocity and decreased height Z-score (from -2.65 SD to -1.8 SD). At the age of six and eight months, she was diagnosed with idiopathic CPP, presenting thelarche, a growth spurt, and an advancement of two years in bone age, which resulted in a reduction in the prediction of her final height Z-score (to -3.23 SD). Subsequently, she started pubertal blockade with leuprorelin acetate. Simultaneously, she switched from conventional XLH treatment to burosumab. The combined use of these medications led to stabilizing bone age, normalizing growth velocity, and improvement in the prediction of final height (Z -2.15 SD) without any side effects or detrimental impact on bone health during treatment.
Discussion: Gonadotropin-releasing hormone analogs (GnRHa) usually cause an immediate decrease in bone mineral density, which usually recovers after discontinuation. In the reported case, aGnRH did not influence her bone formation markers or harm her bone health.
Conclusion: In the described XLH patient with central precocious puberty, combining GnRHa and burosumab was a safe strategy for stabilizing pubertal advancement and bone age and minimizing anthropometric loss.
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