Precocious puberty: the unlikely herald of Familial adenomatous polyposis in a young girl

Abstract

We describe the case of a girl in her middle childhood who presented with signs of heterosexual precocious puberty in the form of axillary and pubic hair growth, acne and clitoromegaly. Investigations showed elevated androgens and autonomous cortisol excess, suggesting an adrenal source. CT imaging confirmed a left adrenal mass and multiple colonic polyps. The family history of colonic polyps in her father, along with the presence of congenital hypertrophy of the retinal pigment epithelium and colonic polyps on colonoscopy, led to a diagnosis of familial adenomatous polyposis (FAP), subsequently confirmed by genetic testing. The patient underwent a successful adrenalectomy, with histopathology confirming an adrenocortical adenoma. Postsurgery, her hormonal levels normalised and symptoms improved. This case presents a unique combination of heterosexual precocious puberty caused by a cortisol and androgen co-secreting adrenal tumour in a girl with FAP, highlighting the complex interplay between endocrine disorders and genetic syndromes.

Keywords: Endocrinology; Gastroenterology; Paediatrics.