Genetics of Cushing ’s disease: from the lab to clinical practice
AbstractCushing ’s disease is a rare, but devastating condition, caused by corticotroph tumors. It rarely manifests as syndrome and very few isolated cases present with germline mutations. Instead, the vast majority of corticotroph tumors are sporadic monoclonal neoplasms. At present, the major recurrent somatic driver mutations are found in theUSP8 gene, which encodes for a deubiquitinase that rescues proteins regulating ACTH synthesis. Almost half of functional corticotroph tumors carry somaticUSP8 mutations that associate with a distinct transcriptomic and clinical profile. Other genes mutated in a small fraction of c...
Source: Pituitary - July 19, 2022 Category: Endocrinology Source Type: research
Novel approaches to bone comorbidity in Cushing ’s disease: an update
AbstractSkeletal complications are frequent and clinically relevant findings in Cushing ’s disease (CD) since an uncoupled suppressed bone formation and enhanced bone resorption leads to a marked skeletal damage with a rapid increase of fracture risk. Reduced Bone Mineral Density (BMD) has been consistently reported and osteopenia or osteoporosis are typical findings in patients with CD. Vertebral Fractures (VFs) are frequently reported and may occur even in patients with an only mild reduction of BMD, representing nowadays a still under- or misdiagnosed comorbidity of these patients being frequently asymptomatic. A nove...
Source: Pituitary - July 18, 2022 Category: Endocrinology Source Type: research
Giant prolactinoma in children and adolescents: a single-center experience and systematic review
ConclusionGP is characterized by male predominance with frequent delay/arrest of puberty (82%), but relative sparing of the FSH-inhibin B axis in boys. DA monotherapy may be preferred as the first-line therapy in pediatric GP. (Source: Pituitary)
Source: Pituitary - July 18, 2022 Category: Endocrinology Source Type: research
Novel approaches to bone comorbidity in Cushing ’s disease: an update
AbstractSkeletal complications are frequent and clinically relevant findings in Cushing ’s disease (CD) since an uncoupled suppressed bone formation and enhanced bone resorption leads to a marked skeletal damage with a rapid increase of fracture risk. Reduced Bone Mineral Density (BMD) has been consistently reported and osteopenia or osteoporosis are typical findings in patients with CD. Vertebral Fractures (VFs) are frequently reported and may occur even in patients with an only mild reduction of BMD, representing nowadays a still under- or misdiagnosed comorbidity of these patients being frequently asymptomatic. A nove...
Source: Pituitary - July 18, 2022 Category: Endocrinology Source Type: research
A patient-reported outcome measure for patients with pituitary adenoma undergoing transsphenoidal surgery
ConclusionThe POS is the first validated PROM for patients undergoing transsphenoidal surgery for a pituitary adenoma. This PROM could be integrated into contemporary practice to provide patient-centred outcomes assessment for this patient group, aligning more closely with patient objectives. (Source: Pituitary)
Source: Pituitary - July 15, 2022 Category: Endocrinology Source Type: research
Predictive value of macular ganglion cell-inner plexiform layer thickness in visual field defect of pituitary adenoma patients: a case-control study
ConclusionsIn patients who underwent resection of pituitary adenoma, nasal inferior GCIPL was an independent risk factor of visual field defect recover after surgery. (Source: Pituitary)
Source: Pituitary - July 14, 2022 Category: Endocrinology Source Type: research
Overnight 1 mg dexamethasone suppression test and 24 h urine free cortisol—accuracy and pitfalls when screening for Cushing’s syndrome
AbstractDiagnosis of Cushing ’s syndrome (CS) is often delayed due to variable clinical features and its rarity. Simple and accurate screening tests are required to enhance screening for hypercortisolism. Both overnight 1 mg dexamethasone suppression test (DST) and urinary free cortisol (UFC) demonstrate high sensitivity and specificity for the diagnosis of CS. However, each test has its own distinctive features, making it preferable in specific clinical conditions. This review will discuss the pitfalls for each of those tests. (Source: Pituitary)
Source: Pituitary - July 11, 2022 Category: Endocrinology Source Type: research
Proportion and predictors of Hypogonadism Recovery in Men with Macroprolactinomas treated with dopamine agonists
ConclusionsAbout two-thirds of men with macroprolactinoma recover from hypogonadism, mostly with 24 months of therapy. Smaller adenoma size, lower prolactin level, earlier prolactin normalization, and higher testosterone patients were related to testosterone normalization. (Source: Pituitary)
Source: Pituitary - July 6, 2022 Category: Endocrinology Source Type: research
Prolactin immunoassay: does the high-dose hook effect still exist?
ConclusionThe high-dose hook effect still exists in a very small minority of prolactin assays. The evolution of assay methods may lead to new assays that remain sensitive to this effect in the future. We therefore advise that the hook effect should still be mentioned in prolactin assay recommendations. (Source: Pituitary)
Source: Pituitary - July 6, 2022 Category: Endocrinology Source Type: research
