Burosumab Therapy in a Paediatric Patient with McCune-Albright Syndrome: A Case Report.
Horm Res Paediatr
; 96(3): 341-348, 2023.
Article
en En
| MEDLINE
| ID: mdl-36279852
ABSTRACT
INTRODUCTION:
McCune-Albright syndrome is characterized by the triad of fibrous dysplasia, café au lait skin pigmentation, and hyperfunctioning endocrinopathies. It is a sporadic condition caused by a missense mutation in the GNAS locus, located on chromosome 20q13.3, resulting in mosaic activation of the G protein alpha subunit. CASE PRESENTATION We preDISCUSSION:
This case shows the positive effect that a short-term course of burosumab has on bone health in a paediatric patient with McCune-Albright syndrome. Further research is required to assess long-term effects. Our patient also presented with precocious puberty and growth hormone excess, a coexistence that can be challenging to diagnose and is less common in males. He received medical management for both conditions, but due to the similar presentations, this case highlights the importance to investigate and diagnose associated complications as early as possible, so they can be managed in a timely manner.Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Pubertad Precoz
/
Displasia Fibrosa Poliostótica
Límite:
Child
/
Child, preschool
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Humans
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Male
Idioma:
En
Revista:
Horm Res Paediatr
Asunto de la revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Año:
2023
Tipo del documento:
Article