Combined Treatment With Leuprolide Acetate and Burosumab in X-linked Hypophosphatemia and Precocious Puberty: A Therapeutic Response

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 heigh...

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Main Authors: Gustavo Tempone Cardoso Penna, MS, Carolina Costa Figueiredo, MD, MSc, Nara Michelle de Araújo Evangelista, MD, MSc, Vânia de Fátima Tonetto Fernandes, MD, PhD, Patricia Salmona, MD, Guido de Paula Colares Neto, MD, PhD
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:AACE Clinical Case Reports
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Online Access:http://www.sciencedirect.com/science/article/pii/S2376060524001020
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author Gustavo Tempone Cardoso Penna, MS
Carolina Costa Figueiredo, MD, MSc
Nara Michelle de Araújo Evangelista, MD, MSc
Vânia de Fátima Tonetto Fernandes, MD, PhD
Patricia Salmona, MD
Guido de Paula Colares Neto, MD, PhD
author_facet Gustavo Tempone Cardoso Penna, MS
Carolina Costa Figueiredo, MD, MSc
Nara Michelle de Araújo Evangelista, MD, MSc
Vânia de Fátima Tonetto Fernandes, MD, PhD
Patricia Salmona, MD
Guido de Paula Colares Neto, MD, PhD
author_sort Gustavo Tempone Cardoso Penna, MS
collection DOAJ
description 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. Case Report: 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. Discussion: 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. Conclusion: 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.
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spelling doaj-art-8ecc9479473b40d198a60102b9dea9532025-01-15T04:11:44ZengElsevierAACE Clinical Case Reports2376-06052025-01-011111823Combined Treatment With Leuprolide Acetate and Burosumab in X-linked Hypophosphatemia and Precocious Puberty: A Therapeutic ResponseGustavo Tempone Cardoso Penna, MS0Carolina Costa Figueiredo, MD, MSc1Nara Michelle de Araújo Evangelista, MD, MSc2Vânia de Fátima Tonetto Fernandes, MD, PhD3Patricia Salmona, MD4Guido de Paula Colares Neto, MD, PhD5Centro Universitário São Camilo, Faculdade de Medicina. Avenida Nazaré, São Paulo, São Paulo, BrasilHospital Infantil Darcy Vargas. Rua Dr. Seráfico de Assis Carvalho, São Paulo, São Paulo, BrasilHospital Infantil Darcy Vargas. Rua Dr. Seráfico de Assis Carvalho, São Paulo, São Paulo, BrasilCentro Universitário São Camilo, Faculdade de Medicina. Avenida Nazaré, São Paulo, São Paulo, BrasilHospital Infantil Darcy Vargas. Rua Dr. Seráfico de Assis Carvalho, São Paulo, São Paulo, BrasilCentro Universitário São Camilo, Faculdade de Medicina. Avenida Nazaré, São Paulo, São Paulo, Brasil; Address correspondence to Dr Guido de Paula Colares Neto, Faculdade de Medicina. Centro Universitário São Camilo, Avenida Nazaré, 1501 CEP: 04263-200, São Paulo, São Paulo, Brasil.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. Case Report: 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. Discussion: 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. Conclusion: 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.http://www.sciencedirect.com/science/article/pii/S2376060524001020burosumabcentral precocious pubertyleuprolide acetateX-linked hypophosphatemia
spellingShingle Gustavo Tempone Cardoso Penna, MS
Carolina Costa Figueiredo, MD, MSc
Nara Michelle de Araújo Evangelista, MD, MSc
Vânia de Fátima Tonetto Fernandes, MD, PhD
Patricia Salmona, MD
Guido de Paula Colares Neto, MD, PhD
Combined Treatment With Leuprolide Acetate and Burosumab in X-linked Hypophosphatemia and Precocious Puberty: A Therapeutic Response
AACE Clinical Case Reports
burosumab
central precocious puberty
leuprolide acetate
X-linked hypophosphatemia
title Combined Treatment With Leuprolide Acetate and Burosumab in X-linked Hypophosphatemia and Precocious Puberty: A Therapeutic Response
title_full Combined Treatment With Leuprolide Acetate and Burosumab in X-linked Hypophosphatemia and Precocious Puberty: A Therapeutic Response
title_fullStr Combined Treatment With Leuprolide Acetate and Burosumab in X-linked Hypophosphatemia and Precocious Puberty: A Therapeutic Response
title_full_unstemmed Combined Treatment With Leuprolide Acetate and Burosumab in X-linked Hypophosphatemia and Precocious Puberty: A Therapeutic Response
title_short Combined Treatment With Leuprolide Acetate and Burosumab in X-linked Hypophosphatemia and Precocious Puberty: A Therapeutic Response
title_sort combined treatment with leuprolide acetate and burosumab in x linked hypophosphatemia and precocious puberty a therapeutic response
topic burosumab
central precocious puberty
leuprolide acetate
X-linked hypophosphatemia
url http://www.sciencedirect.com/science/article/pii/S2376060524001020
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