Endocrine Abstracts

Radiotherapy (RT) may represent a useful tool in the treatment of GH-secreting tumours in the presence of a post-operative active disease and single dose stereotactic RT/gamma knife is the preferred option in most cases. The effects of RT on the control of hormone secretion are very slow and pharmacological treatment remains necessary for years. Some authors advocate withdrawal of somatostatin analogues (SSA) during RT, although the short-term effects of RT on hormone secretio...

Beta-HLH transcription factors are involved in the ontogenesis of neural/neuroendocrine cells, and may play a role in the pathogenesis of neuroendocrine tumours. Neurogenin 2 (Ngn2) is expressed by the developing mouse pituitary. After preliminary data indicating its expression in the normal human pituitary, we have studied its phenotypic expression in normal and adenomatous pituitary tissues.Methods: Fifty-two pituitary adenomas (PA) – 23 clinicall...

The beta-HLH transcription factors NeuroD1 and ASH1 are frequently expressed by pituitary adenomas, both being present in all corticotroph, most clinically non-secreting (CNS) and a subset of GH and/or PRL-secreting adenomas. We wished to investigate the expression of the related beta-HLH factors neurogenins (Ngn) 1, 2 and 3 in the pituitary (n=4) and in a series of pituitary adenomas (n=45). RT-PCR was performed at different amplification cycles (up to 45) in al...

Background: Cushing syndrome due to PPNAD is the main endocrine disorder of CNC, an autosomal dominant multiple neoplasia caused by germline inactivating mutations of the subunit type 1A (PRKAR1A) of the protein kinase A (PKA). In addition, germline inactivating mutations in the gene encoding phosphodiesterase 11A (PDE11A) have been identified in patients with PPNAD.Aim of the study: To investigate the role of PDE11A genetic alterati...

Introduction: We have previously identified (using a whole-genome large scale SNP- screening approach) germline inactivating stop codon mutations of the PDE11A4 in patients with Cushing syndrome due to micronodular adrenal hyperplasia. PDE11A4 is a cAMP/cGMP phosphodiesterase.Aim of the study: To investigate the role of PDE11A genetic alterations in a large cohort of ACT.Materials and methods: Leukocyte DNA from 117 adrenocortical ...