Endocrine Abstracts

Introduction: DICER1 syndrome is a rare inherited disorder characterized by the progressive development of benign and malignant lesions, primarily during childhood and early adulthood. This syndrome arises from dysfunction of the DICER endoribonuclease, which is crucial for processing microRNA, leading to the regulation of oncogenes and tumor suppressor genes. The clinical manifestations of dyseropathies associated with DICER1 syndrome are diverse and may include endocrine conditions (such as multinodular goiter, well-differentiated thyroid cancer, ovarian stromal tumors, and pituitary blastomas) as well as non-endocrine tumors (including pleuropulmonary blastoma, cystic nephroma, pineoblastoma, and rhabdomyosarcoma).

Case presentation: We present a case of a male patient in his thirties from South America who exhibited clinical symptoms of multinodular goiter and cystic nephroma. Genetic testing was performed, confirming a mutation in the DICER1 gene in exon 17, which replaces arginine with serine, thus confirming the diagnosis.

Discussion: The occurrence of somatic mutations in the DICER1 gene plays a critical role in the pathogenesis of dyseropathies and influences the trajectory of oncogenesis. DICER1 syndrome is often underdiagnosed, leading to delayed identification of disease components, late diagnosis of neoplasias, and insufficient family counseling. Early diagnosis and the establishment of screening programs are essential for the management of these patients, as they can significantly reduce the risks of developing more malignant and aggressive forms of the disease.

Conclusion: This case underscores the need for heightened awareness of DICER1 syndrome among healthcare providers to facilitate early diagnosis and intervention, ultimately improving patient outcomes and enabling timely family counseling.