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...

Rare diseases affect more than 300 million people worldwide, often lead to chronic illness, disability, and premature death. The recent advancements in genetics through Next Generation Sequencing (NGS) have revolutionized research and diagnostics. NGS technologies allowed the identification of novel candidate disease-causing genes, significantly also in-depth modification of our understanding of genetic architecture of various rare endocrine diseases. However, despite these re...

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 ...