Endocrine Abstracts

Background: Mutations in the ACTH receptor (MC2R) gene or in its melanocortin accessory protein (MRAP) gene disrupt receptor expression, signaling, and constitutive activity of the MC2R, leading to familial glucocorticoid deficiency (FGD) type 1 and type 2 respectively. FGD is a life-threatening, rare autosomal recessive disorder characterized by impaired cortisol synthesis and classically preserved mineralocorticoid production. There have also been described other mutations t...

Introduction: Zellweger Spectrum Disorders, one of the two groups of Peroxisome Biogenesis Disorders (PBD-ZSD) are rare, complex autosomal recessive genetic anomalies characterised by mutations in any of the PEX genes which are responsible for defective peroxisomes activity. The peroxisomes are organelles that play a primary role mainly in the lipid metabolism of almost all the cells of the body, hence their defective biosynthesis, assembly or biochemical functions turn PBD-ZS...

Introduction: Kabuki syndrome (KS) is a rare congenital, multisystemic disorder caused by pathogenic variants of KMT2D or KDM6A genes, causing autosomal dominant KS type 1 (more than 80%) and X-linked KS type 2 respectively. The phenotype spectrum is highly variable, consisting of a mixture of any of the five cardinal features (facial dysmorphic features, skeletal defects, dermatoglyphic abnormalities, various degrees of intellectual and growth retardation) with structural dis...