ArticleAnnals of pediatric endocrinology & metabolism2022
Adrenocortical carcinoma and a sporadic MEN1 mutation in a 3-year-old girl: a case report.
Article in Annals of pediatric endocrinology & metabolism, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 6 citations in OpenAlex.
- Clinical features of MEN1 in children, adolescents, and young adults: a single-center study.Frontiers in endocrinology · 2026Article
- Bilateral and recurrent adrenocortical carcinoma in MEN1: a case report and review of the literature.Endocrine oncology (Bristol, England) · 2025Article
- Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis.Endocrinology and metabolism (Seoul, Korea) · 2024Article
- Overview of endocrine tumor syndromes manifesting as adrenal tumors.Ewha medical journal · 2024Review
- Pediatric Endocrine Hypertension Related to the Adrenal Glands.Ewha medical journal · 2023Review
- An Asymptomatic, Ectopic Mass as a Presentation of Adrenocortical Carcinoma Due to a Novel GermlineChildren (Basel, Switzerland) · 2023Article
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10 authors at 1 institution in 1 country.
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Abstract
Childhood adrenocortical carcinoma (ACC) is a rare disease that is mostly linked to familial cancer syndrome. Although the prevalence of ACC is extremely low in children, it is clinically important to diagnose ACC early because age and tumor stage are closely related to prognosis. From this perspective, understanding the underlying genetics and possible symptoms of ACC is crucial in managing ACC with familial cancer syndromes. In this report, we present the case of a 3-year-old girl who initially presented with symptoms of precocious puberty and was later found to have ACC by imaging analysis. On genetic analysis, the patient was found to have a MEN1 gene mutation. MEN1 mutations are found in patients with multiple endocrine neoplasia type 1 (MEN1), usually precipitating multiple endocrine tumors, including pituitary adenoma, parathyroid hyperplasia, and adrenal tumors. Although MEN1 mutation is usually inherited in an autosomal dominant manner, neither of the patient's parents had the same mutation, making hers a case of sporadic MEN1 mutation with initial presentation of ACC. The clinical course and further investigations of this patient are discussed in detail in this report.
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