Background: Pediatric pituitary adenomas are rare, accounting for <3 % of all childhood intracranial tumors, the\nmajority of which are prolactinomas. Consequently, they are often misdiagnosed as other suprasellar masses such\nas craniopharyngiomas in this age group. Whilst guidelines exist for the treatment of adult prolactinomas, the\nmanagement of childhood presentations of these benign tumors is less clear, particularly when dopamine agonist\ntherapy fails. Given their rarity, childhood-onset pituitary adenomas are more likely to be associated with a variety\nof genetic syndromes, the commonest being multiple endocrine neoplasia type 1 (MEN-1).\nCase description: We present a case of an early-onset, treatment-resistant giant prolactinoma occurring in an\n11-year-old peripubertal boy that was initially sensitive, but subsequently highly resistant to dopamine agonist\ntherapy, ultimately requiring multiple surgical debulking procedures and proton beam irradiation. Our patient is\nnow left with long-term tumor- and treatment-related neuroendocrine morbidities including blindness and\npanhypopituitarism. Only after multiple consultations and clinical data gained from 20-year-old medical records was\na complex, intergenerationally consanguineous family history revealed, compatible with MEN-1, with a splice site\nmutation (c.784-9G > A) being eventually identified in intron 4 of the MEN1 gene, potentially explaining the\ndifficulties in management of this tumor. Genetic counseling and screening has now been offered to the\nwider family.\nConclusions: This case emphasizes the need to consider pituitary adenomas in the differential diagnosis of all\npediatric suprasellar tumors by careful endocrine assessment and measurement of at least a serum prolactin\nconcentration. It also highlights the lack of evidence for the optimal management of pediatric drug-resistant\nprolactinomas. Finally, the case we describe demonstrates the importance of a detailed family history and the role\nof genetic testing for MEN1 and AIP mutations in all cases of pediatric pituitary adenoma.
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