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Pituitary macroadenomas are neuroendocrine tumors residing in the base of the skull. First-line therapies for prolactin-secreting adenomas (prolactinoma) include medical treatment with dopamine agonists and neurosurgical intervention. Cerebrospinal fluid (CSF) rhinorrhea is a well-known complication following skull base tumor treatment; however, spontaneous CSF rhinorrhea as the initial presenting feature of such tumors is rare.

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Cushing disease (CD), a rare endocrine disorder characterized by a pituitary adenoma that secretes excess adrenocorticotropic hormone (ACTH), leads to overproduction of cortisol by the adrenal glands and, depending on severity and duration, manifests with a broad spectrum of clinical signs and symptoms, ranging from classical features to more common conditions seen in the general population. Discovery of molecular and pathogenic mechanisms related to the development of CD tumors has increased in recent years, almost two-thirds of the somatic variants cases have been linked to the USP8 gene, while very rare germline variants in MEN1 and AIP genes have been associated with pituitary adenomas. Variants affecting the RET proto-oncogene, which encodes a receptor tyrosine kinase involved in cell growth and differentiation, are implicated in the development of medullary thyroid carcinoma (MTC) and its hereditary form, multiple endocrine neoplasia type 2 (MEN2).

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Article Synopsis
  • * Surgery is the main treatment but often has limited success, leading to tumor recurrence and resistance to standard therapies, necessitating early and diverse treatment strategies.
  • * A case study illustrates successful management of aggressive Cushing's disease using a combination of temozolomide and radiotherapy after surgery failed, alongside etomidate infusion for rapid cortisol reduction.
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Cushing syndrome in paediatric population: who and how to screen.

J Endocrinol Invest

September 2024

Department of Pediatrics, IRCCS Istituto Giannina Gaslini, Genova, Italy.

Article Synopsis
  • - Cushing's syndrome (CS) is caused by too much cortisol in the body, either from external glucocorticoid-related treatments or from the body producing it excessively, with childhood cases mostly stemming from medication use rather than natural causes.
  • - The most frequent type of endogenous CS in kids is due to pituitary tumors that release ACTH, with adrenal-related causes being less common but still significant, especially in early childhood.
  • - Diagnosing CS can be challenging due to its gradual onset and subtle symptoms; key signs include changes in facial appearance, weight gain, and growth issues, and accurate diagnosis usually requires multiple tests to confirm hypercortisolism.
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Background: Transsphenoidal surgery is the treatment of choice for Cushing's disease. Successful surgery is associated with subnormal postoperative serum cortisol concentrations and cortisoluria levels, which may guide decisions regarding immediate reoperation. Remission is defined as the biochemical reversal of hypercortisolism with the re-emergence of diurnal circadian rhythm.

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