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

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-F

SUBMITTER: Ryckx S 

PROVIDER: S-EPMC10183130 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature