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...

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 ...

Several studies suggest that vitamin D (VitD) has beneficial effects on male reproduction. Analysis of the correlation between VitD and sperm quality parameters demonstrated that it has a significant impact on sperm motility, partially suggesting a relationship between higher serum testosterone levels and VitD levels. In females, vitD deficiency is associated with adverse pregnancy outcomes and metabolic complications in PCOS. However, there is still no concrete evidence to su...

Beta thalassemia major (betaTM) is an inherited hematological disorder characterized by reduced or absent synthesis of beta-globin chains and anemia. Chronic transfusion treatment is necessary, exposing patients to iron overload comorbidities such as hypogonadism. It is due to iron accumulation in the pituitary gland and, more rarely, in testis and ovaries. HPG axis dysfunction can manifest as low estradiol or testosterone with low to normal serum LH and FSH, as commonly seen ...

Objective: Since the relationship between thymic hyperplasia (TH) and Graves’ Disease (GD) is of paramount importance for diagnostic and therapeutic choices, a wider knowledge of this association is required for endocrinologists in routine clinical practice. Our aim was to assess the prevalence, the clinical features, and the response to treatment of GD-related TH in an Academic referral centre.Methods: All consecutive cases of GD-related TH at Univ...