Endocrine Abstracts

Cabergoline has been recently demonstrated to normalize cortisol secretion in more than one third of patients with Cushing’s disease (CD). The aim of this study was to evaluate short-term (3-months) and long-term (12-24 months) effects of cabergoline treatment on the main systemic complications of CD, including hypertension, glucose intolerance and dyslipidemia. Twenty patients with CD unsuccessfully treated by neurosurgery entered the study. Cabergoline was admistered at...

Adrenal insufficiency is a rare endocrine disorder characterized by low levels of cortisol associated with increased mortality, also due to inadequate replacement therapy. The replacement with the thrice-daily immediate release hydrocortisone (IRH), in contrast to the once-daily modified-release hydrocortisone (MRH), more appropriately mimicking the physiological circadian rhythm of cortisol (PCRC), is associated with metabolic disorders, mainly due to the non-physiological pe...

Background: Cell senescence is characterized by halted cell proliferation and the acquisition of a pro-inflammatory profile. Cancer cells can enter into senescent state following treatments that inflict DNA damage. Intriguingly, these cells can evade the senescent state, gaining enhanced proliferative capabilities and resistance to further treatment, thereby prompting tumor recurrence. Senolytics offer the potential to eradicate selectively senescent cells, preventing tumor re...

Objective: We describe two first cousins presenting with neonatal corticotropic deficiency and severe, early-onset obesity. This study aims to identify the molecular etiology of these disorders in both cases and highlights the limits of genetic investigations.Methods: We collected the clinical-biological data of the family and, more particularly, of the two first cousins (A and B). We performed several constitutive Next-generation Sequencing (NGS) protoc...

Context: Anti-programmed cell death-1 (Anti-PD-1) antibodies have revolutionized advanced cancer therapy. Anti-PD1 therapy is responsible for immune-related adverse events, with frequent endocrine manifestations. Acquired generalized lipodystrophy (AGL), is a rare disease, thought to be immune-mediated, characterized by loss of adipose tissue and insulin resistance-associated complications. We describe the first case of AGL induced by immune checkpoint therapy.<p class="ab...

Background and aims: Little is known about the long-term psychosocial effect of tallness and its treatment in male adolescents.1 Therefore, psychosocial outcome, including adult coping with tall stature were investigated in young adult men, who had consulted for tall stature during adolescence.Methods: All adult men (age >18 years) who had been referred for tall stature or rapid growth during adolescence (ages 11 to 16 years) between 2010 ...

Introduction: Metyrapone blocks cortisol production by inhibiting 11ß-hydroxylation of 11-deoxycortisol, the last step of cortisol synthesis. Based on observational retrospective studies published over more than 50 years metyrapone is approved for the treatment of endogenous Cushing’s syndrome (CS) in 14 European countries. PROMPT is the first prospective study to document the safety and efficacy of metyrapone using modern assay techniques.Desi...

Background: Sex steroids are critical for skeletal development and maturation during puberty as well as skeletal maintenance during adult life. However, the exact time during puberty when sex steroids have the highest impact as well as the ability of bone to recover from transient sex steroid deficiency is unclear. The latter is highly relevant in the clinical context of delayed puberty, since the impact of a delayed pubertal onset on adult bone health remains elusive. Surgica...

Although androgen insensitivity syndrome (AIS) is commonly suspected as a cause of a 46,XY disorder of sex development (DSD), only about half of these cases can be attributed to an inactivating mutation within the coding sequence (CDS) of the androgen receptor (AR) gene. This led to the hypothesis that disrupted AR activation in AIS may also be caused by a defect in a co-factor of AR-activity. However, so far mutations in AR co-factors leading to AIS have not been ide...

Context: Acromegalic patients have a high-risk cardiovascular profile. However, the determinants of cardiovascular risk factors and major cardiovascular events (MACE), which may develop after diagnosis of acromegaly, are not fully understood.Objectives: To identify the predictors for systemic comorbidities and MACE, after diagnosis of disease. The role of therapy for acromegaly on the occurrence of such complications was also evaluated.<p class="abst...