Endocrine Abstracts

Introduction: Transsphenoidal surgery (TSS) is the first-choice treatment in Cushing’s disease (CD) with an immediate success rate of 70-80%. Unfortunately, due to the high rate of post-operative recurrences, CD patients require life-long surveillance. However, there is no consensus on how to follow these patients after TSS to early diagnose relapses. The aim of the study was to find reliable predictors of recurrence after neurosurgery in CD.Materia...

Introduction: Pasireotide (PAS) is an effective treatment for Cushing’s disease (CD) but its use is burdened by the high incidence of diabetes mellitus (DM). We aimed to evaluate the effect of a single subcutaneous injection of PAS on glucose metabolism in CD patients, to identify factors predicting rapid deterioration of glycaemic control.Methods: 14 patients [(f/m=12/2, mean age 43±11.3 years, follow-up 17 months (2-63)] with CD treated with ...

Heat shock protein 90 (HSP90) plays a pivotal role in maturation and stabilization of proteins in conditions of stress. Many HSP90 client proteins are involved in oncogenic signaling and cancer progression, therefore HSP90 inhibitors have a potential as pharmaceutical agents. We reported a strong HSP90 overexpression in corticotroph adenomas and the treatment with C-terminal HSP90 inhibitors has potent anti-tumorigenic and anti-secretory effects in these tumors in vitro</e...

Background: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is characterized by impaired cortisol synthesis, requiring life-long glucocorticoid (GC) replacement therapy. Given the detrimental systemic effects of GCs in the long term, the aim of our study was to assess whether CAH patients have increased metabolic and cardiovascular alterations compared with age-matched controls.Materials and methods: For this cross-sectional...

Introduction: Transsphenoidal surgery (TSS) is the first-choice treatment in Cushing’s disease (CD). When performed by experienced neurosurgeon, post-operative remission can be achieved in 70–80% of cases; however, recurrences during follow-up are quite frequent, involving around 20–30% of patients initially in remission. Early detection of relapses is crucial to avoid cortisol-related comorbidities. The aim of the study was to find reliable predictors of rec...

Ectopic Cushing syndrome (EAS) is a rare condition characterized by ACTH-dependent hypercortisolism resistant to normal physiologic suppression by glucocorticoids. EAS is due to an extra-pituitary tumor producing bioactive molecules generated by post-translational cleavage of the proopiomelanocortin gene (POMC). EAS is associated with significant morbidity and mortality and although surgical resection of the primary ACTH-producing tumor remains the mainstay of therapy, not all...

The glucose-dependent insulinotropic polypeptide receptor (GIPR) is a 7-transmembrane class B G-protein coupled receptor that mediates the incretin response after nutrient stimulation. Although mostly involved in metabolic disorders, in the last years an improper activation of the GIP/GIPR axis has been increasingly recognized in endocrine tumors, with a potential diagnostic and prognostic value. In Medullary Thyroid Cancer (MTC), a neuroendocrine tumor of the parafollicular C...

Introduction: Paradoxical increase of GH following oral glucose load has been described in ~30% of patients with acromegaly and has been related to the ectopic expression of the glucose-dependent insulinotropic polypeptide (GIP) receptor (GIPR) in somatotropinomas. Recently, we identified germline pathogenic variants of lysine demethylase 1A (KDM1A) in patients with GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing’s syndrome. Patients...

Context: Primary bilateral macronodular adrenal hyperplasia (PBMAH) with glucose-dependent insulinotropic polypeptide (GIP)-dependent Cushing’s syndrome is caused by ectopic expression of GIP receptor in the adrenal tissue. The bilateral nature of this adrenal disease suggests germline genetic predisposition. We aimed to identify the molecular driver event responsible for ectopic GIP receptor expression in PBMAH.Methods: We conducted an internationa...