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J Med Case Rep ; 17(1): 195, 2023 May 14.
Artículo en Inglés | MEDLINE | ID: mdl-37179382

RESUMEN

INTRODUCTION: Pure androgen-secreting adrenocortical tumors are a rare but important cause of peripheral precocious puberty. CASE PRESENTATION: Here, we report a pure androgen-secreting adrenocortical tumor in a 2.5-year-old boy presenting with penile enlargement, pubic hair, frequent erections, and rapid linear growth. We confirmed the diagnosis through laboratory tests, medical imaging, and histology. Furthermore, genetic testing detected a pathogenic germline variant in the TP53 gene, molecularly confirming underlying Li-Fraumeni syndrome. DISCUSSION: Only 15 well-documented cases of pure androgen-secreting adrenocortical tumors have been reported so far. No clinical or imaging signs were identified to differentiate adenomas from carcinomas, and no other cases of Li-Fraumeni syndrome were diagnosed in the four patients that underwent genetic testing. However, diagnosing Li-Fraumeni syndrome is important as it implies a need for intensive tumor surveillance and avoidance of ionizing radiation. CONCLUSION: In this article, we emphasize the need to screen for TP53 gene variants in children with androgen-producing adrenal adenomas and report an association with arterial hypertension.


Asunto(s)
Neoplasias de la Corteza Suprarrenal , Síndrome de Li-Fraumeni , Pubertad Precoz , Masculino , Niño , Humanos , Preescolar , Síndrome de Li-Fraumeni/complicaciones , Síndrome de Li-Fraumeni/diagnóstico , Síndrome de Li-Fraumeni/genética , Genes p53 , Andrógenos , Pubertad Precoz/etiología , Neoplasias de la Corteza Suprarrenal/complicaciones , Neoplasias de la Corteza Suprarrenal/genética
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