Endocrine Abstracts

X-linked hypophosphatemic rickets (XLH) is associated with mutations in PHEX, upregulation of FGF23, leading to hypophosphatemia, abnormal bone development and short stature. H-MAB to FGF23, Burosumab, is the new therapy for XLH. Among PHEX mutations, c.1586+6T >C, partially destroying the splice-site, is presumably associated to a mild phenotype not described so far. We describe two siblings bearing the PHEX c.1586+6T >C variant. Cas...

Context: Patients with adrenal insufficiency (AI) have excess mortality and morbidity, mainly due to cardiovascular diseases. The mechanisms for this is unclear.Objective: To assess cardiovascular structure and function in AI patients on conventional replacement therapy and after switching to once-daily, modified-release hydrocortisone (OD-HC).Methods: The analysis included 17 adult AI patients (11 with primary AI, 7 with secondary...

Non-alcoholic fatty liver disease (NAFLD) is becoming more common over the world. Its predisposition for evolving to cirrhosis and hepatocellular cancer, as well as its link to extrahepatic symptoms, puts patients and clinicians under a double burden. Several studies have found a link between NAFLD and many endocrinopathies, demonstrating a substantial bi-directional link between NAFLD and hypogonadism, in both men and women. In man with T2DM, NAFLD is linked to reduced total ...

Background: In patients with Klinefelter syndrome (KS) morbidity and mortality seem to be higher than general population, this depending on a wide number of possible comorbidities. Impaired metabolic profile, increased risk of venous thrombosis and the consequent increase of cardiovascular diseases might play a key role in this condition as well as reduced bone mineral density and higher fracture risk. Nowadays testosterone replacement therapy (TRT) is the first-choice treatme...

Patients with prolactinomas may develop acromegaly during D2-agonists (DA), suggesting the existence of somatomammotroph adenomas with asynchronous secretion of GH and PRL. This may be due to the acquisition of somatotroph characteristics by lactotroph cells or to GH co-secretion by somatommammotroph cells unmasked after PRL inhibition by DA. The prevalence of silent acromegaly in prolactinomas during DA is 4.1%. The purpose of this study was to evaluate the somatotroph axis i...

Introduction: Klinefelter syndrome (KS) is the most frequent chromosomal disorders, occurring in 1:500 to 1:1000 live male births, associated to male infertility. Although significant research has been conducted, KS remains frustratingly underdiagnosed with a remarkable portion of cases being unidentified. Under diagnosis may be due to man’s hesitancy about seeking medical counseling, low awareness of KS among health professionals, and failure by health professionals to p...