Endocrine Abstracts

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...

Introduction: Chronic kidney disease (CKD) is associated with alterations in endogenous glucocorticoid regulation through various mechanisms: longer plasma cortisol half-life, reduced renal cortisol clearance, loss of 11b-HSD type 2 activity in the kidney contributing to an elevated cortisol/cortisone ratio, less effective hepatic metabolism of cortisol and, finally, hyperactivation of the hypothalamus-pituitary-adrenal axis due to acidosis, chronic stress, and inflammation.</...

Introduction: Craniopharyngiomas are rare tumors which are typically located in the sellar and suprasellar region. They can be solid or mixed, cystic-epithelial. Treatment options include surgery, radiation or intracystic therapy. Adipsic diabetes insipidus is a rare, life-threatening disease which can sometimes be associated with craniopharyngioma, either because of tumor mass effect, or as a postprocedure complication. Ultimately, this can cause severe hypernatremia, so long...

Introduction: Testotoxicosis, also known as familial male limited precocious puberty, is a rare cause of peripheral precious puberty caused by an activating mutation of the gene encoding for the LH receptor on Leydig cells (LHCGR gene, cr2p21). This causes autonomous testosterone production irrespective of prepubertal LH values. Ultimately, this can cause psychosocial complications; advanced bone age and low adult height; as well as central precocious puberty.<p class="abs...