Peripheral precocious puberty in Li–Fraumeni syndrome: a case report and literature review of pure androgen-secreting adrenocortical tumors

Autor: Sofie Ryckx, Jean De Schepper, Philippe Giron, Ken Maes, Freya Vaeyens, Kaat Wilgenhof, Pierre Lefesvre, Caroline Ernst, Kim Vanderlinden, Daniel Klink, Frederik Hes, Jesse Vanbesien, Inge Gies, Willem Staels
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Journal of Medical Case Reports, Vol 17, Iss 1, Pp 1-10 (2023)
Druh dokumentu: article
ISSN: 1752-1947
DOI: 10.1186/s13256-023-03889-y
Popis: Abstract 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.
Databáze: Directory of Open Access Journals
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