Precocious Puberty: The Unlikely Herald of Familial Adenomatous Polyposis in a Young Girl

    January 2025 in “ BMJ Case Reports ”
    Vijayakumar Karthik, Puthiyaveetil Khadar Jabbar, Ahmad Alam, Abilash Nair
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    TLDR Precocious puberty can signal familial adenomatous polyposis.
    The document describes a case study of a young girl who exhibited signs of heterosexual precocious puberty, such as axillary and pubic hair growth, acne, and clitoromegaly. Elevated androgen levels and autonomous cortisol excess indicated an adrenal source, and a CT scan revealed a left adrenal mass and multiple colonic polyps. A family history of colonic polyps and genetic testing confirmed a diagnosis of familial adenomatous polyposis (FAP). The girl underwent adrenalectomy, which confirmed an adrenocortical adenoma, and post-surgery, her hormonal levels normalized, and symptoms improved. This case highlights the complex relationship between endocrine disorders and genetic syndromes, specifically the link between precocious puberty and FAP.
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